[[975905,"10p13-p14 deletion syndrome","Del(10)(p13p14)","Deletion 10p13-p14"],[12830,"10q22.3q23.3 microdeletion syndrome","Del(10)(q22.3q23.3)","Deletion 10q22.3q23.3","Monosomy 10q22.3q23.3","chromosome 10q23 deletion syndrome"],[17180,"10q22.3q23.3 microduplication syndrome","Dup(10)(q22.3q23.3)","Trisomy 10q22.3q23.3"],[17580,"11p15.4 microduplication syndrome","Dup(11)p(15.4)","Trisomy 11p15.4"],[18632,"11q22.2q22.3 microdeletion syndrome","Del(11)(q22.2q22.3)","Monosomy 11q22.2q22.3"],[17781,"12p12.1 microdeletion syndrome","Del(12)(p12.1)","Monosomy 12p12.1"],[19784,"12q14 microdeletion syndrome","Del(12)(q14)","Deletion 12q14","Monosomy 12q14","Osteopoikilosis-short stature-intellectual disability syndrome"],[17334,"12q15q21 microdeletion syndrome","Del(12)(q15)(q21)","Deletion 12q15q21","Monosomy 12q15q21","12q15q21.1 microdeletion syndrome"],[18474,"13q12.3 microdeletion syndrome","Del(13)(q12.3)","Monosomy 13q12.3"],[13272,"14q11.2 microdeletion syndrome","Monosomy 14q11.2","Del(14)(q11.2)","chromosome 14q11-q22 deletion syndrome"],[16835,"14q11.2 microduplication syndrome","Dup(14)(q11.2)","Trisomy 14q11.2"],[12324,"14q22q23 microdeletion syndrome","14q22-q23 microdeletion syndrome","Del(14)(q22q23)","Monosomy 14q22-q23","Monosomy 14q22q23","Frias syndrome"],[18429,"14q24.1q24.3 microdeletion syndrome","Del(14)(q24.1q24.3)","Monosomy 14q24.1q24.3"],[14707,"14q32 duplication syndrome","Dup(14)q(32)","Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication","Trisomy 14q32"],[17806,"15q overgrowth syndrome"],[14294,"15q11.2 microdeletion syndrome","15q11.2 BP1-BP2 microdeletion syndrome","Del(15)(q11.2)","Monosomy 15q11.2","chromosome 15q11.2 deletion syndrome"],[12081,"15q11q13 microduplication syndrome","15q11q13 duplication syndrome","Dup(15)(q11q13)","Trisomy 15q11q13"],[12774,"15q13.3 microdeletion syndrome","Del(15)(q13.3)","Monosomy 15q13.3","chromosome 15q13.3 microdeletion syndrome"],[13256,"15q24 microdeletion syndrome","Del(15)(q24)","Monosomy 15q24","chromosome 15q24 deletion syndrome"],[13320,"16p11.2p12.2 microdeletion syndrome","Del(16)(p11.2p12.2)","Monosomy 16p11.2p12.2","chromosome 16p12.2-p11.2 deletion syndrome"],[16834,"16p11.2p12.2 microduplication syndrome","Dup(16)(p11.2p12.2)","Trisomy 16p11.2p12.2"],[44621,"16p12.1p12.3 triplication syndrome","Tetrasomy 16p12.1p12.3","Trip(16)(p12.1p12.3)"],[16836,"16p13.11 microdeletion syndrome","Del(16)(p13.11)","Monosomy 16p13.11"],[16837,"16p13.11 microduplication syndrome","Dup(16)(p13.11)","Trisomy 16p13.11"],[13273,"16p13.3 microduplication syndrome","Distal duplication 16p","Distal trisomy 16p","Dup(16)(p13.3)","Telomeric duplication 16p","Trisomy 16pter","chromosome 16p13.3 duplication syndrome"],[13798,"16q22 deletion syndrome","chromosome 16q22 deletion syndrome"],[18127,"16q24.1 microdeletion syndrome","Del(16)(q24.1)","Monosomy 16q24.1"],[16838,"16q24.3 microdeletion syndrome","Del(16)(q24.3)","Monosomy 16q24.3"],[12574,"17p11.2 microduplication syndrome","Potocki-Lupski syndrome","Trisomy 17p11.2"],[13182,"17p13.3 microduplication syndrome","17p13.3 duplication syndrome","Dup(17)(p13.3)","Trisomy 17p13.3","chromosome 17p13.3 duplication syndrome"],[15350,"17q11.2 microduplication syndrome","Dup(17)(q11.2)","Grisart-Destrée syndrome","Trisomy 17q11.2"],[13797,"17q12 microdeletion syndrome","Del(17)(q12)","Monosomy 17q12","chromosome 17q12 deletion syndrome"],[13796,"17q12 microduplication syndrome","Dup(17)(q12)","Trisomy 17q12","chromosome 17q12 duplication syndrome"],[18216,"17q21.31 microdeletion syndrome","Del(17)(q21.31)","Monosomy 17q21.31","Koolen-de Vries syndrome due to 17q21.31 microdeletion syndrome"],[13298,"17q21.31 microduplication syndrome","Dup(17)(q21.31)","Trisomy 17q21.31","chromosome 17q21.31 duplication syndrome"],[13238,"17q23.1q23.2 microdeletion syndrome","Del(17)(q23.1q23.2)","Monosomy 17q23.1q23.2","chromosome 17q23.1-q23.2 deletion syndrome"],[35151,"17q24.2 microdeletion syndrome","Del(17)(q24)"],[16765,"19p13.12 microdeletion syndrome","Del(19)(p13.12)","Monosomy 19p13.12"],[13336,"19p13.13 microdeletion syndrome","Del(19)(p13.13)","Monosomy 19p13.13","chromosome 19p13.13 deletion syndrome"],[18658,"19p13.3 microduplication syndrome","Dup(19)(p13.3)"],[13090,"19q13.11 microdeletion syndrome","Monosomy 19q13.11","Del(19)(q13.11)","chromosome 19q13.11 deletion syndrome"],[17405,"1p21.3 microdeletion syndrome","Del(1)(p21.3)","Monosomy 1p21.3"],[13396,"1p31p32 microdeletion syndrome","Del(1)(p31p32)","Monosomy 1p31p32","chromosome 1p32-p31 deletion syndrome"],[18697,"1p35.2 microdeletion syndrome","Del(1)(p35.2)","Deletion 1p35.2","Monosomy 1p35.2"],[11929,"1p36 deletion syndrome","Del(1)(p36)","Deletion 1p36","Deletion 1pter","Monosomy 1p36","Monosomy 1pter","Subtelomeric 1p36 deletion","chromosome 1p36 deletion syndrome"],[32933,"1p36.33 duplication syndrome","chromosome 1p36.33 duplication syndrome, atad3 gene cluster, autosomal dominant"],[12914,"1q21.1 microdeletion syndrome","Del(1)(q21)","Monosomy 1q21.1","chromosome 1q21.1 deletion syndrome"],[12915,"1q21.1 microduplication syndrome","Dup(1)(q21.1)","Trisomy 1q21.1","chromosome 1q21.1 duplication syndrome"],[12927,"1q41q42 microdeletion syndrome","Del(1)(q41q42)","Monosomy 1q41q42","chromosome 1q41-q42 deletion syndrome"],[16561,"1q44 microdeletion syndrome","Del(1)(q44)","Monosomy 1q44"],[8774,"2-aminoadipic 2-oxoadipic aciduria","Alpha-aminoadipic aciduria"],[12392,"2-methylbutyryl-CoA dehydrogenase deficiency","2-methylbutyric aciduria","Developmental delay due to 2-methylbutyryl-CoA dehydrogenase deficiency","SBCAD deficiency","Short/branched-chain acyl-coA dehydrogenase deficiency"],[16841,"20p12.3 microdeletion syndrome","Del(20)(p12.3)","Monosomy 20p12.3"],[17780,"20p13 microdeletion syndrome","20p subtelomeric deletion syndrome","Del(20)(p13)","Monosomy 20p13"],[18633,"20q11.2 microdeletion syndrome"],[18204,"20q11.2 microduplication syndrome","Dup(20)(q11.2)"],[16843,"20q13.33 microdeletion syndrome"],[18930,"21q deletion syndrome","21q- syndrome","Partial 21q monosomy","monosomy 21"],[16845,"21q22.11q22.12 microdeletion syndrome"],[18923,"22q11.2 deletion syndrome","22q11DS","CATCH 22","Cayler cardiofacial syndrome","Conotruncal anomaly face syndrome","DiGeorge sequence","DiGeorge syndrome","Microdeletion 22q11.2","Monosomy 22q11","Sedlackova syndrome","Shprintzen syndrome","Takao syndrome","Velocardiofacial syndrome"],[12020,"22q11.2 duplication syndrome","22q11.2 microduplication syndrome","Dup(22)(q11)","Duplication 22q11.2","Trisomy 22q11.2","chromosome 22q11.2 microduplication syndrome"],[18207,"2p13.2 microdeletion syndrome","Del(2)(p13.2)"],[12916,"2p15p16.1 microdeletion syndrome","Del(2)(p15p16.1)","Monosomy 2p15p16.1","chromosome 2p16.1-p15 deletion syndrome"],[15583,"2p21 microdeletion syndrome","2p21 deletion syndrome","Del(2)(p21)","Monosomy 2p21"],[18245,"2p21 microdeletion syndrome without cystinuria","Del(2)(p21) without cystinuria"],[979353,"2p25.3 microduplication syndrome","Dup(2)(p25.3)","Trisomy 2p25.3 syndrome"],[975887,"2q13 microdeletion syndrome","del2q13 syndrome"],[16459,"2q23.1 microdeletion syndrome","Del(2)(q23.1)","Monosomy 2q23.1","Pseudo-Angelman syndrome"],[17786,"2q23.1 microduplication syndrome","Dup(2)(q23.1)","Trisomy 2q23.1"],[16652,"2q31.1 microdeletion syndrome","Del(2)(q31.1)","Monosomy 2q31.1"],[12864,"2q32q33 deletion syndrome","Del(2)(q32q33)","Monosomy 2q32q33","chromosome 2q32-q33 deletion syndrome","SATB2-associated syndrome due to a pathogenic variant","SATB2-associated syndrome due to a point mutation"],[10886,"2q37 microdeletion syndrome","Albright hereditary osteodystrophy type 3","Albright hereditary osteodystrophy-like syndrome","Brachydactyly-intellectual disability syndrome","Del(2)(q37)","Deletion 2q37","Monosomy 2q37qter"],[9520,"3-hydroxy-3-methylglutaric aciduria","3-hydroxy-3-methylglutaryl-CoA lyase deficiency","HMG-CoA lyase deficiency","Hydroxymethylglutaric aciduria"],[11614,"3-hydroxy-3-methylglutaryl-CoA synthase deficiency","HMG-CoA synthase deficiency"],[9371,"3-hydroxyisobutyric aciduria"],[18950,"3-methylcrotonyl-CoA carboxylase deficiency","3-methylcrotonylglycinuria","MCC deficiency","MCCD"],[17359,"3-methylglutaconic aciduria"],[9610,"3-methylglutaconic aciduria type 1","3-methylglutaconyl-CoA hydratase deficiency","3MG-CoA hydratase deficiency","MGA1"],[9787,"3-methylglutaconic aciduria type 3","Autosomal recessive optic atrophy plus syndrome","Autosomal recessive optic atrophy type 3","Costeff optic atrophy syndrome","Costeff syndrome","Infantile optic atrophy with chorea and spastic paraplegia","MGA3"],[9611,"3-methylglutaconic aciduria type 4","MGA4"],[44723,"3-methylglutaconic aciduria type 8","MGA8"],[44724,"3-methylglutaconic aciduria type 9","3-methylglutaconic aciduria-epilepsy-spasticity-severe intellectual disability syndrome","MGA9"],[14561,"3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","3-methylglutaconic aciduria type 7","MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome","MGA7","3-methylglutaconic aciduria, type VIIB"],[11152,"3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form","PHGDH deficiency, infantile/juvenile form","PHGDH deficiency"],[13531,"3-phosphoserine phosphatase deficiency, infantile/juvenile form","PSPH deficiency, infantile/juvenile form","PSPH deficiency"],[19078,"3C syndrome","Craniocerebellocardiac dysplasia","Ritscher-Schinzel syndrome"],[7477,"3M syndrome","3-M syndrome","Yakut short stature syndrome"],[17398,"3MC syndrome","Craniofacial-ulnar-renal syndrome","Malpuech-Michels-Mingarelli-Carnevale syndrome"],[14185,"3q13 microdeletion syndrome","Del(3)(q13)","Monosomy 3q13","chromosome 3q13.31 deletion syndrome"],[19878,"3q26 microduplication syndrome","Dup(3)(q26)","Dup(3q) syndrome","Trisomy 3q26"],[12269,"3q29 microdeletion syndrome","3q subtelomere deletion syndrome","3qter deletion","Del(3)(q29)","Monosomy 3q29","Monosomy 3qter","chromosome 3q29 microdeletion syndrome"],[12761,"3q29 microduplication syndrome","Trisomy 3q29","chromosome 3q29 microduplication syndrome"],[15779,"45,X/46,XY mixed gonadal dysgenesis","45,X/46,XY MGD","45,X0/46,XY MGD","45,X0/46,XY mixed gonadal dysgenesis"],[17573,"46,XX difference of sex development-anorectal anomalies syndrome","46,XX disorder of sex development-anorectal anomalies syndrome"],[9915,"46,XX difference of sex development-skeletal anomalies syndrome","46,XX disorder of sex development-skeletal anomalies syndrome"],[9299,"46,XX gonadal dysgenesis","46,XX complete gonadal dysgenesis","46,XX ovarian dysgenesis","46,XX pure gonadal dysgenesis","Hypergonadotropic ovarian dysgenesis","XX female gonadal dysgenesis","XX-GD","46 XX gonadal dysgenesis"],[14520,"46,XX ovarian dysgenesis-short stature syndrome"],[16281,"46,XX ovotesticular difference of sex development","46,XX ovotesticular DSD","46,XX ovotesticular disorder of sex development"],[100249,"46,XX testicular difference of sex development","46,XX testicular DSD","46,XX testicular disorder of sex development","De la Chapelle syndrome","XX, male syndrome"],[10765,"46,XY complete gonadal dysgenesis","46,XY CGD","46,XY pure gonadal dysgenesis","Swyer syndrome"],[9916,"46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency","17-beta-hydroxysteroid dehydrogenase 3 deficiency","17-ketoreductase deficiency","17-ketosteroidreductase deficiency","46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency"],[9923,"46,XY difference of sex development due to 5-alpha-reductase 2 deficiency","46,XY DSD due to 5-alpha-reductase 2 deficiency","46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency","Pseudovaginal perineoscrotal hypospadias","Steroid 5-alpha-reductase 2 deficiency"],[800378,"46,XY difference of sex development due to isolated 17,20-lyase deficiency","46,XY disorder of sex development due to isolated 17,20-lyase deficiency","17,20-lyase deficiency, isolated"],[13664,"46,XY difference of sex development due to testicular 17,20-desmolase deficiency","46,XY disorder of sex development due to testicular 17,20-desmolase deficiency"],[13400,"46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency","46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency","XY sex reversal-adrenal failure","Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency"],[11766,"46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome"],[17968,"46,XY ovotesticular difference of sex development","46,XY ovotesticular DSD","46,XY ovotesticular disorder of sex development"],[16674,"46,XY partial gonadal dysgenesis","46,XY PGD","46,XY partial testicular dysgenesis"],[19339,"47,XYY syndrome","Double Y syndrome","Jacobs syndrome","XYY syndrome","Y disomy"],[19928,"48,XXXY syndrome"],[15028,"48,XXYY syndrome"],[20469,"48,XYYY syndrome"],[19929,"49,XXXXY syndrome"],[16854,"49,XXXYY syndrome"],[20470,"49,XYYYY syndrome"],[100605,"4H leukodystrophy","POLR-related leukodystrophy"],[19873,"4p16.3 microduplication syndrome","Distal duplication 4p","Distal trisomy 4p","Telomeric duplication 4p","Trisomy 4pter"],[13292,"4q21 microdeletion syndrome","Del(4)(q21)","Monosomy 4q21","chromosome 4q21 deletion syndrome"],[44717,"4q25 proximal deletion syndrome","Proximal del(4)(q25)","Proximal monosomy 4q25"],[16312,"5-fluorouracil poisoning","5-fluorouracil intoxication"],[9825,"5-oxoprolinase deficiency","Oxoprolinuria due to oxoprolinase deficiency"],[13169,"5p13 microduplication syndrome","Dup(5)(p13)","Trisomy 5p13","chromosome 5p13 duplication syndrome"],[16456,"5q14.3 microdeletion syndrome","Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to 5q14.3 microdeletion","Del(5)(q14.3)","Monosomy 5q14.3"],[16860,"5q22 microdeletion syndrome","Del(5)(q22) syndrome","Monosomy 5q22 syndrome","familial adenomatous polyposis due to 5q22.2 microdeletion"],[16461,"5q35 microduplication syndrome","Dup(5)(q35)","Trisomy 5q35"],[20457,"6-phosphogluconate dehydrogenase deficiency"],[9863,"6-pyruvoyl-tetrahydropterin synthase deficiency","Hyperphenylalaninemia due to 6-pyruvoyltetrahydropterin synthase deficiency","BH4-deficient hyperphenylalaninemia A"],[16655,"6p22 microdeletion syndrome","Del(6)(p22)","Monosomy 6p22"],[19164,"6q terminal deletion syndrome"],[15749,"6q16 microdeletion syndrome","Del(6)(q16)","Monosomy 6q16","Prader-Willi-like syndrome due to microdeletion 6q16","6q16 deletion syndrome"],[13025,"6q25.2q25.3 microdeletion syndrome","Del(6)(q25.2q25.3)","Monosomy 6q25.2q25.3","chromosome 6q24-q25 deletion syndrome"],[17792,"7p22.1 microduplication syndrome","Dup(7)(p22.1)","Trisomy 7p22.1"],[12342,"7q11.23 microduplication syndrome","Dup(7)(q11.23)","Trisomy 7q11.23"],[16656,"7q31 microdeletion syndrome","Del(7)(q31)","Monosomy 7q31"],[19876,"8p inverted duplication/deletion syndrome","Invdupdel(8p)","Inverted 8p duplication/deletion syndrome"],[16657,"8p11.2 deletion syndrome","Del(8)(p11.2)","Monosomy 8p11.2"],[16659,"8p23.1 duplication syndrome","Dup(8)(p23.1p23.1)","Trisomy 8p23.1"],[16658,"8p23.1 microdeletion syndrome","Del(8)(p23.1)","Monosomy 8p23.1"],[16458,"8q12 microduplication syndrome","Dup(8)(q12)","Trisomy 8q12"],[13646,"8q21.11 microdeletion syndrome","Del(8)(q21.11)","Deletion 8q21.11","Monosomy 8q21.11","chromosome 8q21.11 deletion syndrome"],[11977,"8q22.1 microdeletion syndrome","Monosomy 8q22.1","Nablus mask-like facial syndrome"],[14263,"8q24.3 microdeletion syndrome","Del(8)(q24.3)","Deletion 8q24.3","Monosomy 8q24.3"],[17928,"9p13 microdeletion syndrome","Del(9)(p13)","Monosomy 9p13"],[35173,"9q21.13 microdeletion syndrome"],[18428,"9q31.1q31.3 microdeletion syndrome","Del(9)(q31.1q31.3)","Monosomy 9q31.1q31.3"],[44641,"9q33.3q34.11 microdeletion syndrome","Del(9)(q33.3q34.11)","Deletion 9q33.3q34.11","Monosomy 9q33.3q34.11"],[19439,"AA amyloidosis","Inflammatory amyloidosis","Reactive amyloidosis"],[19731,"AApoAI amyloidosis","Apolipoprotein A-I amyloidosis","Familial amyloid nephropathy due to apolipoprotein A-I variant","Familial renal amyloidosis due to apolipoprotein A-I variant","Hereditary amyloid nephropathy due to apolipoprotein A-I variant","Hereditary renal amyloidosis due to apolipoprotein A-I variant"],[16533,"AApoAII amyloidosis","Apolipoprotein A-II amyloidosis","Familial amyloid nephropathy due to apolipoprotein A-II variant","Familial renal amyloidosis due to apolipoprotein A-II variant","Hereditary amyloid nephropathy due to apolipoprotein A-II variant","Hereditary renal amyloidosis due to apolipoprotein A-II variant"],[18589,"AApoAIV amyloidosis","Apolipoprotein A-IV amyloidosis"],[21005,"Aarskog-Scott syndrome","Aarskog syndrome","Faciodigitogenital syndrome","Faciogenital dysplasia"],[7839,"Aase-Smith syndrome type 1","Aase-Smith I syndrome","Hydrocephalus-cleft palate-joint contractures syndrome","Aase-Smith syndrome"],[816,"abdominal obesity-metabolic syndrome"],[17949,"ABeta amyloidosis, Arctic type","ABetaE22G amyloidosis","HCHWA, Arctic type","Hereditary cerebral hemorrhage with amyloidosis, Arctic type"],[15033,"ABeta amyloidosis, Dutch type","ABetaE22Q amyloidosis","HCHWA, Dutch type","HCHWA-D","Hereditary cerebral hemorrhage with amyloidosis, Dutch type"],[17946,"ABeta amyloidosis, Iowa type","ABetaD23N amyloidosis","HCHWA, Iowa type","Hereditary cerebral hemorrhage with amyloidosis, Iowa type"],[17947,"ABeta amyloidosis, Italian type","ABetaE22K amyloidosis","HCHWA, Italian type","Hereditary cerebral hemorrhage with amyloidosis, Italian type"],[17948,"ABetaA21G amyloidosis","ABeta amyloidosis, Flemish type","ABetaA21G-related amyloidosis","HCHWA, Flemish type","Hereditary cerebral hemorrhage with amyloidosis, Flemish type"],[17945,"ABetaL34V amyloidosis","ABeta amyloidosis, Piedmont type","ABetaL34V-related amyloidosis","HCHWA, Piedmont type","Hereditary cerebral hemorrhage with amyloidosis, Piedmont type"],[8692,"Abetalipoproteinemia","Bassen-Kornzweig disease"],[8693,"Ablepharon macrostomia syndrome","AMS"],[20425,"Abnormal number of coronary ostia"],[20391,"Abnormal origin of right or left pulmonary artery from the aorta","Hemitruncus arteriosus","Pulmonary artery coming from the aorta"],[1565,"abnormal retinal correspondence"],[1396,"abnormal threshold of rods"],[8306,"ABri amyloidosis","Familial dementia, British type"],[10554,"Abruzzo-Erickson syndrome","CHARGE-like syndrome","Cleft palate-coloboma-deafness syndrome","Cleft palate-coloboma-hearing loss syndrome"],[9516,"Absence deformity of leg-cataract syndrome"],[7507,"Absence of fingerprints-congenital milia syndrome","Absence of dermatoglyphics-congenital milia syndrome","Baird syndrome","Basan-Baird syndrome"],[20443,"Absence of innominate vein","Absence of brachiocephalic vein"],[20007,"Absence of the pulmonary artery","Aplasia of pulmonary artery","UAPA","Unilateral Pulmonary Artery Absence","Unilateral pulmonary artery agenesis"],[15844,"Absence of uterine body","agenesis and aplasia of uterine body"],[10718,"Absent radius-anogenital anomalies syndrome"],[10123,"Absent thumb-short stature-immunodeficiency syndrome","obsolete absent thumb-short stature-immunodeficiency syndrome"],[10981,"Absent tibia-polydactyly-arachnoid cyst syndrome","Holmes-Collins syndrome"],[19795,"Acalvaria","Primary acalvaria"],[19320,"Acanthokeratolytic verrucous nevus"],[7035,"acanthosis nigricans"],[8696,"Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome"],[13571,"Acatalasemia","Catalase deficiency","acatalasia"],[20402,"Accessory mitral valve tissue","congenital accessory mitral valve tissue"],[19034,"Accessory pancreas"],[19815,"Accessory tricuspid valve tissue"],[1329,"accommodative spasm"],[11426,"Aceruloplasminemia","Hereditary ceruloplasmin deficiency"],[20483,"Acetazolamide-responsive myotonia","ACZ-responsive congenital myotonia","ACZ-responsive myotonia","Acetazolamide-responsive congenital myotonia","Myotonia-painful contractions syndrome","Painful congenital myotonia","Painful myotonia"],[8698,"achalasia"],[8699,"Achalasia-microcephaly syndrome","achalasia microcephaly syndrome"],[43465,"achlorhydria"],[19648,"Achondrogenesis"],[8701,"Achondrogenesis type 1A","Achondrogenesis, Houston-Harris type","achondrogenesis type IA"],[10966,"Achondrogenesis type 1B","Achondrogenesis, Parenti-Fraccaro type","achondrogenesis type IB"],[8702,"Achondrogenesis type 2","Achondrogenesis, Langer-Saldino type","achondrogenesis type II"],[7037,"Achondroplasia"],[18852,"Achromatopsia","ACHM","Complete or incomplete color blindness","Pingelapese blindness","Rod monochromacy","Rod monochromatism","Total color blindness"],[6022,"acidosis disorder"],[6346,"Acinar cell carcinoma of pancreas","Pancreatic acinar cell carcinoma"],[979284,"Acinar cystic transformation of the pancreas","Acinar cell cystadnoma","Pancreatic acinar cystic transformation"],[18442,"Acitretin/etretinate embryopathy","Fetal acitretin/etretinate syndrome","Retinoid embryopathy"],[11438,"acne"],[43468,"acne keloid"],[19543,"Acquired aneurysmal subarachnoid hemorrhage"],[15056,"Acquired angioedema type 1","Acquired angioneurotic edema type 1"],[15055,"Acquired angioedema type 2","AAE 2","AAE II","Acquired angioneurotic edema type 2"],[33948,"Acquired angioedema with C1Inh deficiency","Acquired angioneurotic edema with C1 inhibitor deficiency","Acquired angioneurotic edema with C1Inh deficiency"],[19846,"Acquired arginine vasopressin deficiency","acquired central diabetes insipidus"],[20599,"acquired coagulation factor deficiency"],[1828,"acquired color blindness"],[16446,"Acquired cutis laxa","Cutis laxa acquisita"],[18449,"Acquired cystic disease-associated renal cell carcinoma"],[975759,"Acquired elastotic hemangioma","Acquired elastotic haemangioma"],[35737,"Acquired factor V deficiency"],[35738,"Acquired factor VII deficiency"],[21134,"Acquired factor X deficiency","aFX"],[35740,"Acquired factor XI deficiency","aFXI"],[21133,"Acquired factor XIII deficiency","aFXIII"],[19193,"Acquired generalized lipodystrophy","Acquired lipoatrophic diabetes","Lawrence syndrome","Lawrence-Seip syndrome"],[15544,"Acquired hemophagocytic lymphohistiocytosis associated with malignant disease"],[19139,"acquired hemophilia"],[35735,"Acquired hemophilia A","AHA","Acquired F8 deficiency","Acquired factor VIII deficiency"],[35736,"Acquired hemophilia B","AHB","Acquired F9 deficiency","Acquired factor IX deficiency"],[16380,"Acquired hypertrichosis lanuginosa"],[975922,"Acquired hypothalamic obesity"],[18683,"Acquired ichthyosis"],[19157,"Acquired idiopathic sideroblastic anemia","AISA","Primary acquired sideroblastic anemia","RARS","Refractory anemia with ringed sideroblasts","myelodysplastic syndrome with ring sideroblasts"],[18302,"Acquired kinky hair syndrome"],[18740,"Acquired methemoglobinemia","Drug-induced methemoglobinemia"],[19604,"Acquired monoclonal Ig light chain-associated Fanconi syndrome","Acquired Fanconi syndrome secondary to monoclonal gammopathy","Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome"],[1296,"acquired night blindness"],[12104,"Acquired partial lipodystrophy","Barraquer-Simons syndrome","Progressive cephalothoracic lipodystrophy"],[17815,"Acquired porencephaly"],[16990,"Acquired prothrombin deficiency","Acquired hypoprothrombinemia"],[16441,"Acquired pseudoxanthoma elasticum","Acquired Gronblad-Strandberg-Touraine syndrome","Acquired PXE"],[18854,"Acquired purpura fulminans"],[18839,"Acquired schizencephaly"],[1769,"acquired tear duct stenosis"],[20460,"Acquired von Willebrand syndrome","Acquired von Willebrand disease"],[12345,"Acral peeling skin syndrome","Acral PSS","Localized PSS","PSS 2","Peeling skin syndrome 2"],[19581,"Acral persistent papular mucinosis"],[17268,"Acral self-healing collodion baby","Acral SHCB"],[8707,"Acro-renal-mandibular syndrome","Split hand/split foot-mandibular hypoplasia syndrome"],[8708,"Acrocallosal syndrome","ACS"],[11907,"Acrocapitofemoral dysplasia"],[10890,"Acrocardiofacial syndrome"],[8709,"Acrocephalopolydactyly","Acrocephalopolydactylous dysplasia","Elejalde acrocephalopolydactyly"],[8712,"Acrocraniofacial dysostosis","Kaplan-Plauchu-Fitch syndrome"],[6524,"acrodermatitis chronica atrophicans"],[13626,"Acrodermatitis continua of Hallopeau","psoriasis 14, pustular","DITRA","Deficiency of IL-36R antagonist","Deficiency of IL-36Ra"],[8713,"Acrodermatitis enteropathica","AEZ","Acrodermatitis enteropathica, zinc deficiency type","Inherited zinc deficiency"],[19797,"Acrodysostosis"],[17568,"Acrodysplasia scoliosis","Brachydactyly-scoliosis-carpal fusion syndrome","Prata-Liberal-Goncalves syndrome"],[7045,"Acrofacial dysostosis, Catania type","Opitz-Caltabiano syndrome"],[18980,"Acrofacial dysostosis, Kennedy-Teebi type","Kennedy-Teebi syndrome"],[11154,"Acrofacial dysostosis, Palagonia type"],[8714,"Acrofacial dysostosis, Rodríguez type","acrofacial dysostosis Rodriguez type"],[8673,"Acrofacial dysostosis, Weyers type","Curry-Hall syndrome","Weyers acrodental dysostosis","Weyers acrofacial dysostosis"],[8715,"Acrofrontofacionasal dysostosis","Richieri-Costa-Colletto syndrome"],[8716,"Acrogeria","Acrogeria, Gottron type","Acrometageria","Gottron syndrome"],[7047,"Acrokeratoelastoidosis of Costa","AKE","PPKP3","Punctate palmoplantar hyperkeratosis type 3","Punctate palmoplantar keratoderma type 3","punctate palmoplantar keratoderma type III"],[7048,"Acrokeratosis verruciformis of Hopf","AKV of Hopf","acrokeratosis verruciformis"],[19933,"Acromegaly"],[18311,"Acromelanosis"],[11359,"Acromelic frontonasal dysplasia","AFND","Acromelic frontonasal dysostosis","Toriello syndrome"],[8703,"Acromesomelic dysplasia, Grebe type","Chondrodysplasia, Grebe type","acromesomelic dysplasia 2A"],[8717,"Acromesomelic dysplasia, Hunter-Thompson type","Acromesomelic dwarfism","acromesomelic dysplasia 2C, Hunter-Thompson type"],[11275,"Acromesomelic dysplasia, Maroteaux type","acromesomelic dysplasia 1, Maroteaux type"],[7055,"Acromicric dysplasia"],[11150,"Acroosteolysis-keloid-like lesions-premature aging syndrome","Premature aging syndrome, Penttinen type"],[9920,"Acrootoocular syndrome","Pseudopapilledema-blepharophimosis-hand anomalies syndrome"],[11621,"Acropectoral syndrome","ACRP syndrome","Syndactyly-preaxial polydactyly-sternal deformity syndrome"],[7058,"Acropectorovertebral dysplasia","F syndrome"],[7059,"Acrorenal syndrome"],[20528,"ACTH-dependent Cushing syndrome","ACTH-dependent CS","Adrenocorticotropic hormone-dependent Cushing syndrome","Corticotropin-dependent Cushing syndrome"],[5173,"actinic keratosis"],[16770,"Actinic lichen planus","Actinic LP","Lichen planus actinus","Lichen planus subtropicus","Lichen planus tropicus","Lichenoid melanodermatitis","Summertime actinic lichenoid eruption"],[8273,"Actinic prurigo","Familial polymorphous light eruption of American Indians","Hereditary polymorphous light eruption of American Indians","Hutchinson summer prurigo","Hydroa aestivale"],[5631,"Actinomycosis"],[9699,"Action myoclonus-renal failure syndrome","AMRF","EPM4","Myoclonus-nephropathy syndrome","Progressive myoclonic epilepsy type 4","Progressive myoclonus epilepsy type 4"],[18338,"Activated PI3K-delta syndrome","APDS","Activated p110-delta syndrome","PASLI","PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation"],[14222,"Activated PI3K-delta syndrome 1","PASLI-CD","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta activating mutations, type 1","APDS type 1","APDS1","Activated p110delta syndrome, type 1","Activated phosphoinositide 3-kinase delta syndrome-1","immunodeficiency 14"],[14453,"Activated PI3K-delta syndrome 2","APDS type 2","APDS2","Activated p110delta syndrome, type 2","Activated phosphoinositide 3-kinase delta syndrome type 2","PASLI-R1","Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutations, type 2","immunodeficiency 36 with lymphoproliferation"],[19140,"Acute ackee fruit intoxication","Acute intoxication by Blighia sapida","Jamaican vomiting sickness","Jamaican vomiting syndrome"],[19801,"Acute adrenal insufficiency","Acute adrenal failure","Acute adrenocortical insufficiency","Addisonian crisis","Adrenal crisis","Adrenocortical crisis"],[17299,"Acute annular outer retinopathy","AAOR"],[1338,"acute apical periodontitis"],[19458,"Acute basophilic leukemia"],[35344,"Acute bilirubin encephalopathy","ABE","Acute kernicterus"],[20680,"acute bronchiolitis"],[4054,"acute canaliculitis"],[43994,"acute cholecystitis"],[1817,"acute closed-angle glaucoma"],[1650,"acute cystitis"],[4812,"acute dacryoadenitis"],[1610,"acute dacryocystitis"],[19383,"Acute disseminated encephalomyelitis","ADEM","Acute demyelinating encephalomyelitis","Acute disseminated encephalitis"],[35669,"Acute disseminated encephalomyelitis with anti-MOG antibodies","ADEM with anti-MOG antibodies","Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies"],[35670,"Acute disseminated encephalomyelitis without anti-MOG antibodies","Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies"],[18198,"Acute encephalopathy with biphasic seizures and late reduced diffusion","AESD","AIEF","Acute infantile encephalopathy predominantly affecting the frontal lobes"],[17202,"Acute endophthalmitis"],[41366,"acute epiglottitis"],[17858,"Acute erythroid leukemia","AML M6","Acute myeloid leukemia M6","Erythroleukemia"],[4810,"acute ethmoiditis"],[1064,"acute eustachian salpingitis"],[16573,"Acute fatty liver of pregnancy","AFLP"],[4940,"acute female pelvic peritonitis"],[100115,"Acute flaccid myelitis"],[1912,"acute frontal sinusitis"],[17384,"Acute generalized exanthematous pustulosis","AGEP","Pustular drug eruption","Toxic pustuloderma"],[20546,"Acute graft versus host disease"],[100370,"acute hepatitis B virus infection"],[100371,"acute hepatitis C virus infection"],[13111,"Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins","Acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins"],[14744,"Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome","Autosomal recessive spinocerebellar ataxia type 21","SCAR21"],[24568,"Acute infantile liver failure-multisystemic involvement syndrome","infantile liver failure syndrome 1"],[20347,"Acute inflammatory demyelinating polyradiculoneuropathy","AIDP","Acute idiopathic demyelinating polyneuropathy","Acute inflammatory polyneuropathy","GBS, acute inflammatory demyelinating polyradiculoneuropathic form","Guillain-Barré syndrome, acute inflammatory demyelinating polyradiculoneuropathic form"],[8294,"Acute intermittent porphyria"],[19203,"Acute interstitial pneumonia","Acute interstitial pneumonitis","Hamman-Rich syndrome"],[2492,"acute kidney injury"],[6637,"acute kidney tubular necrosis"],[4777,"acute laryngitis"],[1218,"acute laryngopharyngitis"],[19460,"Acute leukemia of ambiguous lineage","Acute leukemia of indeterminate lineage","Hybrid acute leukemia","Mixed lineage acute leukemia"],[19542,"Acute liver failure","Acute hepatic failure","Fulminant hepatic failure"],[15796,"Acute lung injury"],[4967,"Acute lymphoblastic leukemia","ALL","Acute lymphoblastic leukemia/lymphoma","Acute lymphocytic leukemia","Precursor lymphoid neoplasm"],[44627,"Acute macular neuroretinopathy","AMNR"],[35444,"Acute mast cell leukemia","Acute MCL"],[2186,"acute maxillary sinusitis"],[18872,"Acute megakaryoblastic leukemia","AMKL","AML M7","Acute megakaryocytic leukemia","Acute myeloid leukemia M7"],[20526,"Acute megakaryoblastic leukemia in children with Down syndrome","Acute megakaryoblastic leukemia in children with trisomy 21","DS-AMKL in children with Down syndrome","DS-AMKL in children with trisomy 21","acute megakaryoblastic leukemia in down syndrome"],[18004,"Acute megakaryoblastic leukemia in children without Down syndrome","Acute megakaryoblastic leukemia in children without trisomy 21","Non-DS-AMKL","acute megakaryoblastic leukemia without down syndrome"],[7896,"Acute monoblastic/monocytic leukemia","AML M5","Acute monoblastic or monocytic leukemia","acute monocytic leukemia"],[20348,"Acute motor and sensory axonal neuropathy","AMSAN","Acute motor-sensory axonal GBS","Acute motor-sensory axonal Guillain-Barré syndrome"],[20349,"Acute motor axonal neuropathy","AMAN","Acute pure motor GBS","Acute pure motor Guillain-Barré syndrome"],[20320,"Acute myeloblastic leukemia with maturation","AML M2","Acute myeloblastic leukemia M2"],[5224,"Acute myeloblastic leukemia without maturation","AML M1","Acute myeloblastic leukemia M1"],[19456,"Acute myeloid leukaemia with myelodysplasia-related features","AML with multilineage dysplasia","AML with myelodysplasia-related features","Acute myeloid leukemia with multilineage dysplasia"],[18874,"Acute myeloid leukemia","AML","Acute myelogenous leukemia"],[15164,"Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent","AML and myelodysplastic syndromes related to alkylating agent"],[15608,"Acute myeloid leukemia and myelodysplastic syndromes related to radiation","AML and myelodysplastic syndromes related to radiation"],[15165,"Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor","AML and myelodysplastic syndromes related to topoisomerase type 2 inhibitor"],[20317,"Acute myeloid leukemia with 11q23 abnormalities","AML with 11q23 abnormalities"],[20316,"Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)","AML with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)"],[17894,"Acute myeloid leukemia with CEBPA somatic mutations","AML with CEBPA somatic mutations"],[18435,"Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)","AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)","acute myeloid leukemia with inv3(p21;q26.2) or t(3;3)(p21;q26.2)"],[5223,"Acute myeloid leukemia with minimal differentiation","AML M0","Minimally differentiated acute myeloblastic leukemia"],[18437,"Acute myeloid leukemia with NPM1 somatic mutations","AML with NPM1 somatic mutations"],[18433,"Acute myeloid leukemia with t(6;9)(p23;q34)","AML with t(6;9)(p23;q34)"],[18256,"Acute myeloid leukemia with t(8;16)(p11;p13) translocation","AML with t(8;16)(p11;p13) translocation"],[15166,"Acute myeloid leukemia with t(8;21)(q22;q22) translocation","AML with t(8;21)(q22;q22) translocation"],[18434,"Acute myeloid leukemia with t(9;11)(p22;q23)","AML with t(9;11)(p22;q23)"],[35112,"Acute myeloid leukemia with t(9;22)(q34.1;q11.2)","AML with BCR-ABL1","AML with t(9;22)(q34.1;q11.2)","acute myeloid leukemia with BCR-ABL1"],[18871,"Acute myelomonocytic leukemia","AML M4","AMMoL","acute myelomonocytic leukemia M4"],[4781,"acute myocardial infarction"],[16991,"Acute necrotizing encephalopathy of childhood","ANEC","Isolated ANE","Isolated acute necrotizing encephalopathy"],[16600,"Acute neonatal citrullinemia type I","Acute neonatal citrullinemia type 1","Early-onset citrullinemia type 1","Early-onset citrullinemia type I"],[3231,"acute nonparalytic poliomyelitis"],[18173,"Acute opioid intoxication","acute opioid poisoning"],[1230,"acute orbital inflammation"],[6515,"acute pancreatitis"],[16499,"Acute pandysautonomia","Acute panautonomic Guillain-Barré syndrome","Acute panautonomic neuropathy","Acute panautonomic GBS","autoimmune autonomic ganglionopathy"],[19455,"Acute panmyelosis with myelofibrosis","Acute myelodysplasia with myelofibrosis","Acute myelofibrosis"],[20600,"acute pharyngitis"],[18548,"Acute poisoning by drugs with membrane-stabilizing effect"],[43089,"acute posterior multifocal placoid pigment epitheliopathy"],[12883,"Acute promyelocytic leukemia","AML M3","AML with t(15;17)(q22;q12);(PML/RARalpha) and variants","APML","Acute myeloblastic leukemia 3","Acute myeloid leukemia with t(15;17)(q22;q12);(PML/RARalpha) and variants"],[16498,"Acute pure sensory neuropathy","Acute pure sensory GBS","Acute pure sensory Guillain-Barré syndrome"],[3529,"acute pyelonephritis"],[33938,"Acute radiation syndrome","Acute radiation sickness"],[6502,"acute respiratory distress syndrome"],[1208,"acute respiratory failure"],[32716,"Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate","Acute reversible leukoencephalopathy due to SLC13A3 deficiency","Acute reversible leukoencephalopathy due to sodium-dependent dicarboxylate transporter deficiency","leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate"],[1173,"acute salpingitis"],[16500,"Acute sensory ataxic neuropathy","ASAN","Acute sensory ataxic GBS","Acute sensory ataxic Guillain-Barré syndrome"],[1312,"acute serous otitis media"],[1624,"acute sphenoidal sinusitis"],[3763,"acute stress disorder"],[1949,"acute thyroiditis"],[20686,"acute tonsillitis"],[15342,"Acute transverse myelitis"],[35666,"Acute transverse myelitis with anti-MOG antibodies","Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies"],[18547,"Acute tricyclic antidepressant poisoning"],[1802,"acute tympanitis"],[20321,"Acute undifferentiated leukemia","Acute myeloid leukemia, minimal differentiation, FAB M0"],[17298,"Acute zonal occult outer retinopathy","AZOOR"],[12624,"Acyl-CoA dehydrogenase 9 deficiency","ACAD9 deficiency"],[7098,"ACys amyloidosis","CST3-related amyloidosis","Cystatin amyloidosis","HCHWA, Icelandic type","Hereditary cerebral hemorrhage with amyloidosis, Icelandic type","Hereditary cystatin C amyloid angiopathy"],[2422,"Adamantinoma","Adamantinoma of long bones"],[7034,"Adams-Oliver syndrome","AOS","Aplasia cutis congenita with distal limb anomalies","Aplasia cutis congenita with terminal transverse limb defects","Congenital scalp defects with distal limb anomalies","Congenital scalp defects with distal limb reduction anomalies"],[7297,"ADan amyloidosis","Familial dementia, Danish type"],[979273,"ADAR-related hereditary spastic paraplegia","ADAR1-related hereditary spastic paraplegia","Adenosine deaminase RNA specific-related hereditary spastic paraplegia"],[100480,"Addison disease","Autoimmune Addison disease","Autoimmune adrenalitis","Classic Addison disease","Primary Addison disease","Primary adrenal insufficiency","autoimmune primary adrenal insufficiency"],[8724,"Adducted thumbs-arthrogryposis syndrome, Christian type"],[13869,"Adenine phosphoribosyltransferase deficiency","2,8-dihydroxyadenine urolithiasis","APRT deficiency"],[2752,"Adenocarcinoma of ovary","Ovarian adenocarcinoma"],[2735,"Adenocarcinoma of the anal canal","anal canal adenocarcinoma"],[5153,"Adenocarcinoma of the cervix uteri","Cervical adenocarcinoma"],[18536,"Adenocarcinoma of the gallbladder and extrahepatic biliary tract","Adenocarcinoma of the gallbladder and EBT","adenocarcinoma of gallbladder and extrahepatic biliary tract"],[18532,"Adenocarcinoma of the liver and intrahepatic biliary tract","Adenocarcinoma of the liver and IBT","obsolete adenocarcinoma of liver and intrahepatic biliary tract"],[5028,"Adenocarcinoma of the oesophagus and oesophagogastric junction","Adenocarcinoma of the esophagus and the gastroesophageal junction","Esophageal adenocarcinoma and adenocarcinoma of the esophagogastric junction","esophageal adenocarcinoma"],[2653,"Adenocarcinoma of the penis","Penile adenocarcinoma","Paget disease of the penis"],[3198,"Adenocarcinoma of the small intestine","Adenocarcinoma of the small bowel","small intestine adenocarcinoma"],[19838,"Adenohypophysitis","Anterior pituitary hypophysitis"],[975925,"Adenoid ameloblastoma","AA"],[6132,"Adenoid basal carcinoma of the cervix uteri","Cervical adenoid basal carcinoma"],[6133,"Adenoid cystic carcinoma of the cervix uteri","Cervical adenoid cystic carcinoma"],[261,"adenoiditis"],[19668,"Adenoma of pancreas","Pancreatic adenoma"],[978310,"Adenomatoid tumor of the peritoneum","adenomatoid tumour of the peritoneum"],[24326,"Adenomatoid tumor of the pleura","pleural adenomatoid tumor"],[10888,"adenomyosis"],[2876,"Adenosarcoma of the cervix uteri","Cervical adenosarcoma"],[2878,"Adenosarcoma of the corpus uteri","uterine corpus adenosarcoma"],[13028,"Adenosine monophosphate deaminase deficiency","AMP deaminase deficiency","Myoadenylate deaminase deficiency"],[7068,"Adenylosuccinate lyase deficiency","ADSL deficiency","Adenylosuccinase deficiency"],[14877,"Adenylosuccinate synthetase-like 1-related distal myopathy","ADSSL1-related distal myopathy","myopathy, distal, 5"],[957458,"Adermatopathic dermatomyositis","Dermatomyositis sine dermatitis"],[1234,"adhesive otitis media"],[7070,"Adiposis dolorosa","Adiposalgia","Adipose tissue rheumatism","Dercum disease","Lipomatosis dolorosa"],[2817,"adrenal gland cancer"],[6639,"Adrenocortical carcinoma","ACC","adrenal cortex carcinoma"],[16505,"Adrenocortical carcinoma with pure aldosterone hypersecretion","Pure APAC","Pure aldosterone-producing adrenocortical carcinoma","Pure aldosterone-secreting adrenocortical carcinoma","aldosterone-producing adrenal cortex adenoma"],[15339,"Adrenomyeloneuropathy"],[10288,"Adrenomyodystrophy"],[100130,"Adult acute respiratory distress syndrome","Adult ARDS"],[17044,"Adult familial nephronophthisis-spastic quadriparesia syndrome"],[16216,"Adult hepatocellular carcinoma","Adult HCC"],[1010154,"Adult hypophosphatasia","Adult Rathbun disease","Adult phosphoethanolaminuria"],[11922,"Adult idiopathic neutropenia","Adult chronic idiopathic neutropenia","nonimmune chronic idiopathic neutropenia of adults"],[15806,"Adult intestinal botulism","Adult intestinal colonization botulism","Adult intestinal toxemia botulism","Adult intestinal toxin-mediated botulism","Infant-like botulism"],[16091,"Adult Krabbe disease"],[9897,"Adult polyglucosan body disease","APBD"],[20520,"adult pulmonary Langerhans cell histiocytosis"],[9958,"Adult Refsum disease","Classic Refsum disease","HMSN 4","HMSN IV","Hereditary motor and sensory neuropathy type 4","Hereditary motor and sensory neuropathy type IV","Heredopathia atactica polyneuritiformis","Phytanic-CoA hydroxylase deficiency"],[7072,"ADULT syndrome","Acro-dermato-ungual-lacrimal-tooth syndrome","Pigment anomaly-ectrodactyly-hypodontia syndrome"],[19471,"Adult T-cell leukemia/lymphoma","ATLL"],[8215,"Adult-onset autosomal dominant leukodystrophy","ADLD","Adult-onset autosomal dominant demyelinating leukodystrophy"],[13392,"Adult-onset autosomal recessive cerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 10","SCAR10","autosomal recessive spinocerebellar ataxia 10"],[14804,"Adult-onset autosomal recessive sideroblastic anemia","GLRX5-related sideroblastic anemia","sideroblastic anemia 3"],[13928,"Adult-onset cervical dystonia, DYT23 type","dystonia 23"],[18002,"Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy","Adult-onset CPEO with mitochondrial myopathy"],[18006,"Adult-onset distal myopathy due to VCP mutation"],[11979,"Adult-onset foveomacular vitelliform dystrophy","AOFMD","AVMD","Adult-onset foveomacular dystrophy","Adult-onset foveomacular dystrophy with choroidal neovascularization","Adult-onset vitelliform macular dystrophy","Gass disease","Pseudo-Best disease","Pseudo-vitelliform macular dystrophy"],[17617,"Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies","Acquired adult-onset immunodeficiency","Adult-onset immunodeficiency with acquired anti-interferon-gamma autoantibodies"],[800027,"Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia","ALSP","Autosomal dominant leukoencephalopathy with neuroaxonal spheroids","FPSG","Familial dementia, Neumann type","Familial progressive subcortical gliosis","GPSC","HDLS","Hereditary diffuse leukoencephalopathy with spheroids","POLD","Pigmentary orthochromatic leukodystrophy","Subcortical gliosis of Neumann","leukoencephalopathy, diffuse hereditary, with spheroids 1"],[14899,"Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency","Adult-onset multiple mtDNA deletion syndrome due to DGUOK deficiency","progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 4"],[18324,"Adult-onset myasthenia gravis","Adult-onset acquired myasthenia","Adult-onset autoimmune myasthenia gravis"],[15739,"Adult-onset nemaline myopathy"],[958094,"Adult-onset progressive leukoencephalopathy-early-onset deafness","Adult-onset progressive leukoencephalopathy-early-onset hearing loss"],[35649,"Adult-onset Steinert myotonic dystrophy","Adult-onset Steinert disease","Adult-onset myotonic dystrophy type 1"],[19355,"Adult-onset Still disease","AOSD","Wissler-Fanconi syndrome"],[19733,"AFib amyloidosis","Familial amyloid nephropathy due to fibrinogen A alpha-chain variant","Fibrinogen A alpha-chain amyloidosis","Hereditary amyloid nephropathy due to fibrinogen A alpha-chain variant","Hereditary renal amyloidosis due to fibrinogen A alpha-chain variant"],[1262,"African histoplasmosis"],[24472,"African tick typhus","boutonneuse fever"],[5459,"African trypanosomiasis","Sleeping sickness","human African trypanosomiasis"],[12508,"Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome"],[30519,"Agammaglobulinemia-skin involvement-failure to thrive syndrome","Hypogammaglobulinemia-skin involvement-failure to thrive syndrome","Syndromic agammaglobulinemia due to ZIP7 deficiency","agammaglobulinemia 9, autosomal recessive"],[7097,"AGel amyloidosis","Familial amyloid polyneuropathy type IV","Familial amyloidosis, Finnish type","Gelsolin amyloidosis","Hereditary amyloidosis, Finnish type","Finnish type amyloidosis"],[20445,"Agenesis of the superior vena cava","Absence of the SVC","Absence of the superior caval vein","Absence of the superior vena cava","Agenesis of the SVC","Agenesis of the superior caval vein"],[19470,"Aggressive NK-cell leukemia","ANKCL","Aggressive NK-cell lymphoma","NK-cell LGL leukemia","NK-cell large granular lymphocyte leukemia"],[18643,"Aggressive periodontitis","AgP","Juvenile periodontitis","Susceptibility to localized juvenile periodontitis"],[20333,"Aggressive systemic mastocytosis"],[8740,"Agnathia-holoprosencephaly-situs inversus syndrome","agnathia-otocephaly complex"],[5638,"agnosia"],[3709,"agoraphobia"],[1609,"agranulocytosis"],[18613,"AH amyloidosis","Heavy chain amyloidosis"],[14358,"AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome","Xia-Gibbs syndrome","AHDC1-related intellectual disability - obstructive sleep apnea - mild dysmorphism syndrome"],[10270,"Ahmad syndrome","Intellectual developmental disorder, X-linked, syndromic 7","MRXS7","X-linked intellectual disability, Ahmad type","syndromic X-linked intellectual disability 7"],[12099,"AICA-ribosiduria","5-amino-4-imidazole carboxamide ribosiduria","AICA-ribosiduria due to ATIC deficiency","AICAR transformylase/IMP cyclohydrolase deficiency","ATIC deficiency"],[10568,"Aicardi syndrome","Agenesis of corpus callosum with chorioretinal abnormality"],[18866,"Aicardi-Goutières syndrome","Encephalopathy with basal ganglia calcification","Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid","Aicardi-Goutieres syndrome"],[5797,"AIDS wasting syndrome","HIV wasting syndrome"],[7074,"ainhum"],[15317,"Airway infantile hemangioma","Airway infantile haemangioma","Laryngotracheal angioma"],[19192,"AKT2-related familial partial lipodystrophy","AKT2-related FPLD"],[19438,"AL amyloidosis","Light-chain amyloidosis"],[800044,"Alacrimia-choreoathetosis-liver dysfunction syndrome","NGLY1 deficiency","NGLY1-CDDG","congenital disorder of deglycosylation 1"],[7318,"Alagille syndrome","Alagille-Watson syndrome","Arteriohepatic dysplasia","Syndromic bile duct paucity"],[16861,"Alagille syndrome due to 20p12 microdeletion","Alagille syndrome due to del(20)(p12)","Alagille syndrome due to monosomy 20p12","Alagille-Watson syndrome due to monosomy 20p12","Arteriohepatic dysplasia due to monosomy 20p12","Syndromic bile duct paucity due to monosomy 20p12"],[16862,"Alagille syndrome due to a JAG1 point mutation","Alagille-Watson syndrome due to a JAG1 point mutation","Arteriohepatic dysplasia due to a JAG1 point mutation","Syndromic bile duct paucity due to a JAG1 point mutation"],[12439,"Alagille syndrome due to a NOTCH2 point mutation","Alagille-Watson syndrome due to a NOTCH2 point mutation","Arteriohepatic dysplasia due to a NOTCH2 point mutation","Syndromic bile duct paucity due to a NOTCH2 point mutation"],[8744,"Alar cartilages hypoplasia-coloboma-telecanthus syndrome"],[14031,"Alazami syndrome","Microcephalic primordial dwarfism, Alazami type"],[14931,"Alazami-Yuan syndrome","ALYUS","Developmental delay-facial dysmorphism-hirsutism syndrome"],[8156,"Albers-Schönberg osteopetrosis","Osteopetrosis autosomal dominant type 2","autosomal dominant osteopetrosis 2"],[43209,"albinism"],[10403,"Albinism-deafness syndrome","Albinism-hearing loss syndrome"],[2046,"alcohol abuse"],[7079,"alcohol dependence"],[6643,"alcoholic cardiomyopathy"],[21104,"alcoholic fatty liver disease"],[4640,"alcoholic gastritis"],[1505,"alcoholic hepatitis"],[6644,"alcoholic liver cirrhosis"],[43693,"alcoholic liver disease"],[6645,"alcoholic polyneuropathy"],[9053,"ALDH18A1-related De Barsy syndrome","Neurocutaneous syndrome, Bicknell type","P5CS deficiency","Delta-1-pyrroline 5-carboxylate synthetase deficiency"],[18588,"ALECT2 amyloidosis","Leukocyte chemotactic factor-2 amyloidosis"],[8752,"Alexander disease","AxD"],[18209,"Alexander disease type I","AxD type I"],[18210,"Alexander disease type II","AxD type II"],[12052,"ALG1-CDG","Carbohydrate deficient glycoprotein syndrome type Ik","Congenital disorder of glycosylation type 1k","Congenital disorder of glycosylation type Ik","Mannosyltransferase 1 deficiency","CDG syndrome type Ik","CDG-Ik","CDG1K","ALG1-congenital disorder of glycosylation"],[13349,"ALG11-CDG","CDG syndrome type Ip","CDG-Ip","CDG1P","Carbohydrate deficient glycoprotein syndrome type Ip","Congenital disorder of glycosylation type 1p","Congenital disorder of glycosylation type Ip","ALG11-congenital disorder of glycosylation"],[11783,"ALG12-CDG","Congenital disorder of glycosylation type Ig","Mannosyltransferase 8 deficiency","CDG syndrome type Ig","CDG-Ig","CDG1G","Carbohydrate deficient glycoprotein syndrome type Ig","Congenital disorder of glycosylation type 1g","ALG12-congenital disorder of glycosylation"],[10472,"ALG13-CDG","CDG syndrome type Is","CDG-Is","CDG1S","Congenital disorder of glycosylation type 1s","Congenital disorder of glycosylation type Is","developmental and epileptic encephalopathy, 36"],[11933,"ALG2-CDG","CDG syndrome type Ii","CDG-Ii","CDG1I","Carbohydrate deficient glycoprotein syndrome type Ii","Congenital disorder of glycosylation type 1i","Congenital disorder of glycosylation type Ii","Mannosyltransferase 2 deficiency","ALG2-congenital disorder of glycosylation"],[10998,"ALG3-CDG","CDG syndrome type Id","CDG-Id","CDG1D","Carbohydrate deficient glycoprotein syndrome type Id","Congenital disorder of glycosylation type 1d","Congenital disorder of glycosylation type Id","Mannosyltransferase 6 deficiency","ALG3-congenital disorder of glycosylation"],[11291,"ALG6-CDG","CDG syndrome type Ic","CDG-Ic","CDG1C","Carbohydrate deficient glycoprotein syndrome type Ic","Congenital disorder of glycosylation type 1c","Congenital disorder of glycosylation type Ic","Glucosyltransferase 1 deficiency","ALG6-congenital disorder of glycosylation 1C"],[11969,"ALG8-CDG","CDG syndrome type Ih","CDG-Ih","CDG1H","Carbohydrate deficient glycoprotein syndrome type Ih","Congenital disorder of glycosylation type 1h","Congenital disorder of glycosylation type Ih","Glucosyltransferase 2 deficiency","ALG8-congenital disorder of glycosylation"],[12117,"ALG9-CDG","CDG syndrome type IL","CDG-IL","CDG1L","Carbohydrate deficient glycoprotein syndrome type IL","Congenital disorder of glycosylation type 1L","Mannosyltransferase 7-9 deficiency","ALG9-congenital disorder of glycosylation"],[17603,"ALK-negative anaplastic large cell lymphoma","ALK- ALCL","ALK- anaplastic large cell lymphoma"],[17602,"ALK-positive anaplastic large cell lymphoma","ALK+ ALCL","ALK+ anaplastic large cell lymphoma"],[18225,"ALK-positive large B-cell lymphoma","ALK+ LBCL","ALK+ large B-cell lymphoma"],[44718,"Alkaline ceramidase 3 deficiency","ACER3-related early childhood-onset progressive leukodystrophy","Leukodystrophy due to alkaline ceramidase 3 deficiency"],[8753,"Alkaptonuria","Hereditary ochronosis","Homogentisic acid oxidase deficiency"],[10354,"Allan-Herndon-Dudley syndrome"],[15243,"Allergic bronchopulmonary aspergillosis","ABPA","Allergic aspergillosis","Hinson-Pepys disease"],[6525,"allergic contact dermatitis"],[6526,"allergic urticaria"],[19757,"Alobar holoprosencephaly"],[15082,"Alopecia antibody deficiency","Ipp-Gelfand syndrome"],[5340,"alopecia areata"],[6551,"alopecia mucinosa"],[19080,"Alopecia totalis"],[8757,"Alopecia universalis","alopecia universalis congenita"],[800198,"alopecia universalis"],[10229,"alopecia, congenital"],[8754,"Alopecia-contractures-dwarfism-intellectual disability syndrome","ACD-intellectual disability syndrome","alopecia - contractures - dwarfism - intellectual disability syndrome"],[7085,"Alopecia-epilepsy-pyorrhea-intellectual disability syndrome","Shokeir syndrome"],[8756,"Alopecia-intellectual disability syndrome","Perniola-Krajewska-Carnevale syndrome","alopecia - intellectual disability syndrome"],[11019,"Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome","Devriendt-Vandenberghe-Fryns syndrome"],[8758,"Alpers-Huttenlocher syndrome","Alpers progressive sclerosing poliodystrophy","Alpers syndrome","Progressive neuronal degeneration of childhood with liver disease","mitochondrial DNA depletion syndrome 4a"],[8495,"Alpha delta granule deficiency","Alpha dense granule deficiency","Combined alpha-delta platelet storage pool deficiency","platelet storage pool deficiency"],[13282,"Alpha-1-antitrypsin deficiency","Alpha-1-proteinase inhibitor deficiency","Alpha1-antitrypsin deficiency","alpha 1-antitrypsin deficiency"],[12130,"Alpha-B crystallin-related late-onset myopathy","Alpha-B crystallin-related late-onset distal myopathy","Late-onset distal crystallinopathy","myofibrillar myopathy 2"],[13440,"Alpha-dystroglycan-related limb-girdle muscular dystrophy R16","Alpha-dystroglycan-related LGMD R16","Autosomal recessive limb-girdle muscular dystrophy type 2P","LGMD type 2P","LGMD2P","Limb-girdle muscular dystrophy type 2P"],[15045,"Alpha-heavy chain disease","Immunoproliferative small intestinal disease","Mediterranean lymphoma","Alpha-HCD","IPSID"],[9561,"Alpha-mannosidosis","Lysosomal alpha-D-mannosidase deficiency"],[17733,"Alpha-mannosidosis, adult form","Lysosomal alpha-D-mannosidase deficiency, adult form"],[17732,"Alpha-mannosidosis, infantile form","Lysosomal alpha-D-mannosidase deficiency, infantile form"],[17779,"Alpha-N-acetylgalactosaminidase deficiency","NAGA deficiency","Schindler disease"],[12221,"Alpha-N-acetylgalactosaminidase deficiency type 1","NAGA deficiency type 1","Schindler disease type 1"],[12222,"Alpha-N-acetylgalactosaminidase deficiency type 2","Adult-onset Alpha-N-acetylgalactosaminidase deficiency","Kanzaki disease","NAGA deficiency type 2","Schindler disease type 2"],[19264,"Alpha-N-acetylgalactosaminidase deficiency type 3","NAGA deficiency type 3","Schindler disease type 3"],[11968,"Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3","Alpha-sarcoglycan-related LGMD R3","Alpha-sarcoglycanopathy","Autosomal recessive limb-girdle muscular dystrophy type 2D","LGMD due to alpha-sarcoglycan deficiency","LGMD type 2D","LGMD2D","Limb-girdle muscular dystrophy due to alpha-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2D"],[11399,"Alpha-thalassemia","alpha thalassemia spectrum"],[17144,"Alpha-thalassemia and related disorders","obsolete alpha-thalassemia and related diseases"],[7716,"Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16","ATR syndrome linked to chromosome 16","ATR syndrome, deletion type","ATR-16 syndrome","Alpha thalassemia-intellectual disability syndrome, deletion type","alpha thalassemia-intellectual disability syndrome type 1"],[10328,"Alpha-thalassemia-myelodysplastic syndrome","ATMDS","Acquired HbH disease","Acquired hemoglobin H disease"],[35370,"ALPI-related inflammatory bowel disease"],[18965,"Alport syndrome","Alport deafness-nephropathy","Alport hearing loss-nephropathy"],[10263,"Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome","AMME syndrome","ATS-MR","AMME complex"],[8763,"Alström syndrome","Alstrom syndrome"],[4913,"alternating esotropia"],[1281,"alternating exotropia"],[16241,"Alternating hemiplegia of childhood","AHC"],[22428,"aluminosis"],[17282,"Alveolar echinococcosis","Echinococcus multilocularis infection"],[1752,"alveolar periostitis"],[9994,"Alveolar rhabdomyosarcoma"],[11655,"Alveolar soft tissue sarcoma","ASPS","Alveolar soft part sarcoma"],[19732,"ALys amyloidosis","Familial amyloid nephropathy due to lysozyme variant","Familial renal amyloidosis due to lysozyme variant","Hereditary amyloid nephropathy due to lysozyme variant","Hereditary renal amyloidosis due to lysozyme variant","Lysozyme amyloidosis"],[4975,"Alzheimer disease"],[43310,"amaurosis fugax"],[8766,"Amaurosis-hypertrichosis syndrome"],[5644,"amebiasis"],[7095,"Amelo-onycho-hypohidrotic syndrome","Ameloonychohypohidrotic ectodermal dysplasia","Ameloonychohypohidrotic syndrome"],[6079,"Ameloblastic carcinoma"],[17795,"Ameloblastoma"],[9185,"Amelocerebrohypohidrotic syndrome","Epilepsy-dementia-amelogenesis imperfecta syndrome","Kohlschütter-Tönz syndrome"],[19507,"Amelogenesis imperfecta"],[1444,"American trypanosomiasis","Chagas disease"],[1021,"ametropic amblyopia"],[12368,"Aminoacylase 1 deficiency","ACY1D","N-acyl-L-amino acid amidohydrolase deficiency","N-acyl-aliphatic-L-amino acid amidohydrolase deficiency"],[16004,"Aminopterin/methotrexate embryofetopathy","Aminopterin embryopathy syndrome","Fetal aminopterin syndrome"],[11790,"Amish lethal microcephaly"],[11539,"Amish nemaline myopathy","nemaline myopathy 5"],[15167,"Amniotic band syndrome","ABS","Amniotic band sequence","Congenital constriction ring syndrome","Congenital ring constrictions","Constriction band syndrome","Streeter dysplasia"],[850046,"Amniotic fluid embolism"],[19028,"Amoebiasis due to Entamoeba histolytica"],[19036,"Amoebiasis due to free-living amoebae"],[5629,"Amoebic keratitis","Acanthamoeba keratitis"],[919,"ampulla of vater cancer"],[19065,"Amyloidosis"],[17906,"Amyloidosis cutis dyschromia","Amyloidosis cutis dyschromica"],[4976,"Amyotrophic lateral sclerosis","ALS","Charcot disease","Lou Gehrig disease"],[11223,"Amyotrophic lateral sclerosis type 4","ALS4","Distal hereditary motor neuropathy with upper motor neuron signs","dHMN with upper motor neuron signs"],[405,"anal canal cancer"],[754,"Anal fistula"],[2940,"anal margin basal cell carcinoma"],[1470,"anal margin squamous cell carcinoma"],[60766,"anal polyp"],[1274,"anal spasm"],[16700,"Anaplastic ependymoma"],[16734,"Anaplastic ganglioglioma"],[20325,"Anaplastic large cell lymphoma","ALCL","CD30 positive anaplastic large cell lymphoma","Ki-1 positive anaplastic large cell lymphoma","Primary systemic ALCL","sACL"],[16703,"Anaplastic oligoastrocytoma, dual genotype","Anaplastic oligoastrocytoma, dual genotype NEC","Anaplastic oligoastrocytoma, dual genotype, not elsewhere classified","aMOA","anaplastic oligoastrocytoma"],[6468,"Anaplastic thyroid carcinoma","thyroid gland undifferentiated (anaplastic) carcinoma"],[16709,"Anaplastic/large cell medulloblastoma"],[975757,"Anastomosing hemangioma","Anastomosing haemangioma"],[1686,"anatomical narrow angle borderline glaucoma"],[11773,"Anauxetic dysplasia","Spondyloepimetaphyseal dysplasia, Menger type","Spondyloepimetaphyseal dysplasia, anauxetic type"],[8222,"Andersen-Tawil syndrome","Andersen syndrome","LQT7","Long QT syndrome type 7"],[19154,"Androgen insensitivity syndrome","AIS","Androgen resistance syndrome","Goldberg-Maxwell syndrome","Morris syndrome","Testicular feminization syndrome"],[12794,"ANE syndrome","Alopecia-progressive neurological defect-endocrinopathy syndrome"],[1239,"anemia of prematurity"],[819,"anencephaly"],[15197,"Aneurysm of sinus of Valsalva","SOVA","SVA","Sinus of Valsalva aneurysm"],[13426,"Aneurysm-osteoarthritis syndrome"],[18815,"Aneurysmal bone cyst"],[7114,"Angel-shaped phalango-epiphyseal dysplasia","ASPED"],[7113,"Angelman syndrome"],[18461,"Angelman syndrome due to a point mutation"],[18462,"Angelman syndrome due to imprinting defect in 15q11-q13"],[20302,"Angelman syndrome due to maternal 15q11q13 deletion","Angelman syndrome due to maternal monosomy 15q11q13"],[20303,"Angelman syndrome due to paternal uniparental disomy of chromosome 15","UPD(15)pat"],[1224,"Angelucci syndrome"],[16705,"Angiocentric glioma"],[4977,"Angioimmunoblastic T-cell lymphoma","Immunoblastic lymphadenopathy","Lymphogranulomatosis X","T-cell lymphoma, AILD type","AILT"],[19803,"Angioma serpiginosum"],[12809,"Angiomatoid fibrous histiocytoma","AFH","histiocytoma, Angiomatoid fibrous"],[16982,"Angiosarcoma"],[19143,"Angiostrongyliasis"],[18258,"Angora hair nevus","Schauder syndrome"],[2306,"angular blepharoconjunctivitis"],[6527,"anhidrosis"],[19172,"aniridia"],[7120,"Aniridia-absent patella syndrome"],[8795,"Aniridia-cerebellar ataxia-intellectual disability syndrome","Gillespie syndrome"],[15199,"Aniridia-intellectual disability syndrome","Walker-Dyson syndrome","aniridia - intellectual disability syndrome"],[15198,"Aniridia-ptosis-intellectual disability-familial obesity syndrome"],[8796,"Aniridia-renal agenesis-psychomotor retardation syndrome","Sommer-Rathbun-Battles syndrome"],[15200,"Anisakiasis"],[309,"aniseikonia"],[7122,"anisocoria"],[1478,"anisometropia"],[14210,"ANK3-related intellectual disability-sleep disturbance syndrome","intellectual disability-hypotonia-spasticity-sleep disorder syndrome"],[7123,"Ankyloblepharon filiforme adnatum-cleft palate syndrome"],[15201,"Ankyloblepharon filiforme adnatum-imperforate anus syndrome","Aughton-Hufnagle syndrome","ankyloblepharon filiforme-imperforate anus syndrome"],[7124,"Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome"],[7125,"ankyloglossia"],[5306,"ankylosing spondylitis"],[7127,"Ankylosing vertebral hyperostosis with tylosis","diffuse idiopathic skeletal hyperostosis"],[5645,"Ankylostomiasis","Ancylostomiasis","Hookworm infection"],[16771,"Annular atrophic lichen planus","Annular atrophic LP"],[11870,"Annular epidermolytic ichthyosis","AEI"],[979325,"Annular erythema of infancy"],[16772,"Annular lichen planus","Annular LP"],[8183,"Annular pancreas"],[12652,"Anoctamin-5-related limb-girdle muscular dystrophy R12","Anoctamin-5-related LGMD R12","Autosomal recessive limb-girdle muscular dystrophy type 2L","LGMD type 2L","LGMD2L","Limb-girdle muscular dystrophy type 2L"],[8797,"Anodontia"],[35249,"Anomalous aortic origin of the left coronary artery","AOLCA","L-ACAOS","Left coronary artery from right aortic sinus","obsolete anomalous aortic origin of the left coronary artery"],[35250,"Anomalous aortic origin of the right coronary artery","AORCA","R-ACAOS","Right coronary artery from left aortic sinus","obsolete anomalous aortic origin of the right coronary artery"],[35252,"Anomalous origin of coronary artery from the pulmonary artery","ACAPA","obsolete anomalous origin of coronary artery from the pulmonary artery"],[15109,"Anomaly of the mitral subvalvular apparatus","congenital anomaly of the mitral subvalvular apparatus"],[19816,"Anomaly of the tricuspid subvalvular apparatus","obsolete anomaly of the tricuspid subvalvular apparatus"],[8798,"Anonychia congenita totalis","nonsyndromic congenital nail disorder 4"],[7131,"Anonychia with flexural pigmentation"],[11795,"Anonychia-microcephaly syndrome","Teebi-Kaurah syndrome"],[19577,"Anonychia-onychodystrophy syndrome"],[10930,"Anophthalmia plus syndrome","Fryns microphthalmia syndrome","Microphthalmia with facial clefting"],[15230,"Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome","Cassia Stocco dos Santos syndrome"],[8799,"Anophthalmia/microphthalmia-esophageal atresia syndrome"],[5351,"anorexia nervosa"],[19780,"Anotia"],[8339,"Antecubital pterygium syndrome"],[15794,"Antenatal multiminicore disease with arthrogryposis multiplex congenita"],[1488,"anterior corneal pigmentation"],[18873,"Anterior cutaneous nerve entrapment syndrome","ACNES","Intercostal nerve syndrome","Rectus abdominis syndrome"],[2310,"anterior dislocation of lens"],[6649,"anterior ischemic optic neuropathy"],[13353,"Anterior maxillary protrusion-strabismus-intellectual disability syndrome","MRAMS syndrome","intellectual disability, anterior maxillary protrusion, and strabismus"],[1804,"anterior scleritis"],[700447,"Anterior urethral valve"],[3398,"anterograde amnesia"],[6654,"anthracosis"],[5119,"anthrax infection"],[9303,"Anti-glomerular basement membrane disease","Anti-GBM syndrome"],[18688,"Anti-p200 pemphigoid"],[8000010,"Antiphospholipid syndrome","APLS","Antiphospholipid antibody syndrome","Classic APLS","Classic antiphospholipid syndrome","Hughes syndrome"],[1164,"antisocial personality disorder"],[19344,"Antisynthetase syndrome","AS syndrome","ASS","ASyS","Anti-ARS syndrome","Anti-Jo1 syndrome","Anti-aminoacyl-tRNA synthetase syndrome"],[8803,"Antley-Bixler syndrome"],[8726,"Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis","Ambiguous genitalia-disordered steroidogenesis Antley-Bixler syndrome","Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis"],[20667,"Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis","Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis"],[1863,"aorta atresia"],[7143,"Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome"],[9010,"Aortic arch interruption"],[980,"aortic atherosclerosis"],[5648,"aortic valve insufficiency"],[20411,"Aorto-left ventricular tunnel"],[20410,"Aorto-right ventricular tunnel"],[18082,"Aorto-ventricular tunnel"],[21902,"aortopulmonary window"],[7041,"Apert syndrome","ACS1","Acrocephalosyndactyly type 1"],[8806,"Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome","Johnson-Munson syndrome"],[10882,"Aphalangy-syndactyly-microcephaly syndrome"],[598,"aphasia"],[17934,"Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome","Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome","Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome"],[4845,"aphthous stomatitis"],[7145,"Aplasia cutis congenita"],[8808,"Aplasia cutis congenita-intestinal lymphangiectasia syndrome","Bronspiegel-Zelnick syndrome"],[10988,"Aplasia cutis-myopia syndrome","Gershoni-Baruch-Leibo syndrome"],[8397,"Aplasia of lacrimal and salivary glands","ALSG","Congenital absence of lacrimal puncta and salivary glands"],[30894,"Aplastic anemia-intellectual disability-dwarfism syndrome","AMeD syndrome","AMED syndrome, digenic"],[20567,"Apnea of prematurity"],[24467,"apocrine sweat gland disorder"],[700513,"Apolipoprotein A-I deficiency","ApoA-I deficiency","Familial apoA-I deficiency","Familial hypoalphalipoproteinemia"],[9025,"Apparent mineralocorticoid excess","11-beta-hydroxysteroid dehydrogenase deficiency type 2","Ulick syndrome"],[1235,"appendix cancer"],[665,"apraxia"],[35450,"Aprosencephaly"],[11062,"Aprosencephaly cerebellar dysgenesis"],[35448,"Aprosencephaly/atelencephaly spectrum","AP/AT spectum","obsolete aprosencephaly/atelencephaly spectrum"],[44663,"Aquagenic palmoplantar keratoderma","Aquagenic keratoderma","Aquagenic syringeal acrokeratoderma","Aquagenic wrinkling of the palms","Transient reactive papulotranslucent acrokeratoderma"],[1206,"aqueous misdirection"],[15234,"Arachnodactyly-abnormal ossification-intellectual disability syndrome","Kosztolanyi syndrome"],[15235,"Arachnodactyly-intellectual disability-dysmorphism syndrome","De Die-Smulders-Vles-Fryns syndrome"],[15304,"Arachnoiditis","Adhesive arachnoiditis","Chronic arachnoiditis"],[7150,"arcus senilis"],[8812,"AREDYLD syndrome","Acrorenal defect-ectodermal dysplasia-diabetes syndrome"],[5651,"arenavirus hemorrhagic fever"],[17874,"Argentine hemorrhagic fever","Argentinian hemorrhagic fever","Junin hemorrhagic fever"],[15790,"Arginine vasopressin deficiency","central diabetes insipidus"],[16383,"Arginine vasopressin resistance","Nephrogenic diabetes insipidus"],[9099,"Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome","Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome","nephrogenic diabetes insipidus-intracranial calcification syndrome"],[8814,"Argininemia","Arginase 1 deficiency","Arginase deficiency","Hyperargininemia"],[8815,"Argininosuccinic aciduria","ASA deficiency","ASL deficiency","Argininosuccinase deficiency","Argininosuccinatelyase deficiency","Argininosuccinic acid lyase deficiency"],[1986,"Argyll Robertson pupil"],[18952,"Argyria","Silver staining"],[4573,"ariboflavinosis"],[7316,"Arnold-Chiari malformation type I","Chiari malformation type 1","Chiari malformation type I","Arnold-Chiari malformation type 1"],[13301,"Aromatase deficiency","Congenital estrogen deficiency"],[7690,"Aromatase excess syndrome","AEXS","Familial hyperestrogenism","Hereditary prepubertal gynecomastia"],[12084,"Aromatic L-amino acid decarboxylase deficiency","AADC deficiency"],[10889,"Arterial dissection-lentiginosis syndrome"],[18164,"Arterial thoracic outlet syndrome","ATOS","Arterial TOS","Arterial cervical rib syndrome","Arterial costoclavicular syndrome","Arterial hyperabduction syndrome","Arterial scalenus anticus syndrome","Arterial thoracic outlet compression syndrome"],[8818,"Arterial tortuosity syndrome","ATS"],[7525,"Arthrochalasia Ehlers-Danlos syndrome","Ehlers-Danlos syndrome, arthrochalasia type"],[15168,"Arthrogryposis multiplex congenita"],[8825,"Arthrogryposis multiplex congenita-whistling face syndrome","Illum syndrome"],[12750,"Arthrogryposis-anterior horn cell disease syndrome","AAHD","Vuopala disease","lethal arthrogryposis-anterior horn cell disease syndrome"],[44406,"Arthrogryposis-ectodermal dysplasia syndrome","Stoll-Alembik-Finck syndrome","arthrogryposis-ectodermal dysplasia-other anomalies syndrome"],[8826,"Arthrogryposis-hyperkeratosis syndrome, lethal form","Johnston-Aarons-Schelley syndrome"],[7159,"Arthrogryposis-like hand anomaly-sensorineural deafness syndrome","Arthrogryposis-like hand anomaly-sensorineural hearing loss syndrome","Distal arthrogryposis type 6"],[7158,"Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome","Distal arthrogryposis type 5","Distal arthrogryposis type IIB","Distal arthrogryposis with ophthalmoplegia","Oculomelic amyoplasia","arthrogryposis- oculomotor limitation-electroretinal anomalies syndrome"],[17123,"Arthrogryposis-renal dysfunction-cholestasis syndrome"],[12195,"Arthrogryposis-severe scoliosis syndrome","Distal arthrogryposis type 4","Distal arthrogryposis type IID"],[4637,"aryepiglottic fold cancer"],[16466,"Asbestos intoxication","Asbestosis"],[5654,"ascariasis"],[2238,"ascending colon cancer"],[7198,"Ascher syndrome","Blepharochalasis-double lip syndrome"],[18900,"Aseptic abscess syndrome","Aseptic abscesses syndrome","Aseptic systemic abscesses","Corticosteroid-sensitive aseptic abscess syndrome","Disseminated aseptic abscesses"],[6662,"aseptic meningitis"],[15299,"Asherman syndrome"],[8830,"Aspartylglucosaminuria","Aspartylglucosaminidase deficiency"],[5657,"Aspergillosis"],[4979,"asthma"],[11284,"astigmatism"],[19408,"Astley-Kendall dysplasia"],[16707,"Astroblastoma"],[16686,"Astrocytoma grade 2","Diffuse astrocytoma"],[16684,"Astrocytoma grade 3","Anaplastic astrocytoma"],[975918,"Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome","Anoctamin-5-related myopathy pseudometabolic phenotype"],[927,"asymptomatic neurosyphilis"],[10188,"Ataxia with vitamin E deficiency","AVED","Ataxia with isolated vitamin E deficiency","Familial isolated vitamin E deficiency","Friedreich-like ataxia","Isolated vitamin E deficiency","familial isolated deficiency of vitamin E"],[8838,"Ataxia-deafness-intellectual disability syndrome","Ataxia-hearing loss-intellectual disability syndrome","Reardon-Baraitser syndrome","ataxia - deafness - intellectual disability syndrome"],[8980,"Ataxia-hypogonadism-choroidal dystrophy syndrome","Boucher-Neuhäuser syndrome"],[14419,"Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome","Poretti-Boltshauser syndrome","ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome"],[8842,"Ataxia-oculomotor apraxia type 1","AOA1","ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia"],[14557,"Ataxia-oculomotor apraxia type 4","AOA4","ataxia - oculomotor apraxia type 4"],[8038,"Ataxia-pancytopenia syndrome","ATXPC syndrome","Myelocerebellar disorder","SAMD9L-related ataxia-pancytopenia syndrome"],[15248,"Ataxia-photosensitivity-short stature syndrome","Fenton-Wilkinson-Toselano syndrome"],[10095,"Ataxia-tapetoretinal degeneration syndrome"],[8840,"Ataxia-telangiectasia","Louis-Bar syndrome","ataxia telangiectasia"],[18266,"Ataxia-telangiectasia variant","ataxia - telangiectasia variant"],[24557,"Ataxia-telangiectasia-like disorder","ATLD","ataxia-telangiectasia-like disorder 1"],[397,"ataxic cerebral palsy"],[35449,"Atelencephaly","Atelencephalic microcephaly"],[7167,"Atelosteogenesis type I","AO1","AOI","Atelosteogenesis type 1","Giant cell chondrodysplasia","Spondylo-humero-femoral dysplasia"],[9727,"Atelosteogenesis type II","AO2","AOII","Atelosteogenesis type 2","De la Chapelle dysplasia","Neonatal osseous dysplasia type 1"],[7168,"Atelosteogenesis type III","AO3","AOIII","Atelosteogenesis type 3"],[7770750,"Athabaskan brainstem dysgenesis syndrome","ABSD","Athabascan brainstem dysgenesis syndrome","Navajo brainstem syndrome"],[2004,"atheroembolism of kidney"],[5311,"atherosclerosis"],[8843,"Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome","Atherosclerosis-hearing loss-diabetes-epilepsy-nephropathy syndrome","Feigenbaum-Bergeron-Richardson syndrome"],[22697,"athetoid cerebral palsy"],[19855,"Athyreosis"],[10323,"Atkin-Flaitz syndrome","X-linked intellectual disability, Atkin type"],[4980,"atopic eczema"],[15599,"Atopic keratoconjunctivitis"],[10504,"ATP6AP1-CDG","ATP6AP1-congenital disorder of glycosylation","ATPase H+ transporting accessory protein 1-congenital disorder of glycosylation","CDG-hepathopathy-hypogammaglobulinemia-metabolic cutis laxa syndrome","Carbohydrate deficient glycoprotein syndrome due to ATP6AP1","immunodeficiency 47"],[15195,"Atresia of urethra","Urethral atresia"],[19837,"Atrial appendage anomaly","Atrial auricle anomaly","obsolete atrial appendage anomaly"],[20438,"Atrial septal aneurysm"],[20435,"Atrial septal defect, coronary sinus type","ASD, coronary sinus type","Unroofed coronary sinus"],[20437,"Atrial septal defect, ostium primum type","ASD, ostium primum type"],[20434,"Atrial septal defect, ostium secundum type","ASD, ostium secundum type"],[20436,"Atrial septal defect, sinus venosus type","ASD, sinus venosus type"],[7173,"Atrial septal defect-atrioventricular conduction defects syndrome","atrial septal defect 7"],[8847,"Atrichia with papular lesions","Papular atrichia"],[10825,"Atrioventricular defect-blepharophimosis-radial and anal defect syndrome","Houlston-Ironton-Temple syndrome"],[20290,"Atrioventricular septal defect","AVSD","Atrioventricular canal defect","familial atrioventricular septal defect"],[3647,"atrophic flaccid tympanic membrane"],[1989,"atrophic glossitis"],[16773,"Atrophic lichen planus","Atrophic LP"],[1547,"atrophic nonflaccid tympanic membrane"],[958110,"Atrophic papulosis","Degos disease","Köhlmeier-Degos disease"],[22513,"Atrophoderma of Pasini and Pierini","atrophoderma of Pierini and Pasini"],[8849,"Atrophoderma vermiculata","Folliculitis ulerythematosa reticulate"],[1415,"atrophy of testis"],[18133,"Attenuated Chédiak-Higashi syndrome","Atypical Chédiak-Higashi syndrome"],[16362,"Attenuated familial adenomatous polyposis","AFAP","APC-related AFAP","APC-related attenuated FAP","APC-related attenuated familial polyposis coli","Attenuated FAP","Attenuated familial polyposis coli"],[19441,"ATTRV122I amyloidosis","ATTRV122I-related amyloidosis"],[100552,"ATTRV30M amyloidosis","ATTRV30M-related amyloidosis","Hereditary ATTRV30M-related amyloidosis"],[16052,"Atypical autism"],[4653,"Atypical chronic myeloid leukemia","Subacute myeloid leukemia","atypical chronic myeloid leukemia, BCR-ABL1 negative"],[17819,"Atypical dentin dysplasia due to SMOC2 deficiency","Dentin dysplasia type 1 with microdontia and shape anomalies"],[34110,"Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome"],[12517,"Atypical Gaucher disease due to saposin C deficiency","Gaucher disease due to saposin C deficiency"],[15010,"Atypical glycine encephalopathy","Atypical non-ketotic hyperglycinemia","Atypical NKA"],[16244,"Atypical hemolytic uremic syndrome","Atypical HUS","aHUS","atypical hemolytic-uremic syndrome"],[19739,"Atypical hemolytic uremic syndrome with anti-factor H antibodies","Atypical HUS with anti-factor H antibodies","aHUS with anti-factor H antibodies","aHUS with neutralizing autoantibodies against factor H","atypical hemolytic-uremic syndrome with anti-factor H antibodies"],[35290,"Atypical hemolytic uremic syndrome with complement gene abnormality"],[16539,"Atypical hypotonia-cystinuria syndrome","Atypical HCS"],[18321,"Atypical juvenile parkinsonism"],[19447,"Atypical lichen myxedematosus","Intermediate lichen myxedematosus"],[17801,"Atypical Meigs syndrome","Atypical Demons-Meigs syndrome","Incomplete Meigs syndrome"],[16850,"Atypical Norrie disease due to Xp11.3 microdeletion","Atypical Norrie disease due to del(X)(p11.3)","Atypical Norrie disease due to nullisomy Xp11.3","atypical Norrie disease due to monosomy Xp11.3"],[16305,"Atypical pantothenate kinase-associated neurodegeneration","NBIA1, atypical form","Neurodegeneration with brain iron accumulation type 1, atypical form","PKAN, atypical form"],[2684,"Atypical papilloma of choroid plexus","Atypical CPP","Atypical choroid plexus papilloma"],[20488,"Atypical progressive supranuclear palsy syndrome","Atypical PSP syndrome"],[17746,"Atypical Rett syndrome","Atypical RTT","Rett syndrome variant"],[20560,"Atypical teratoid rhabdoid tumor","ATRT"],[21172,"Atypical Timothy syndrome","ATS","Atypical LQT8","Timothy syndrome, atypical type"],[19321,"Atypical Werner syndrome","Atypical progeroid syndrome"],[12359,"Atypical/leaky severe combined immunodeficiency due to partial RAG defect","Atypical/leaky SCID due to partial RAG defect","Atypical/leaky severe combined immunodeficiency due to partial recombination activating gene defect","combined immunodeficiency due to partial RAG1 deficiency"],[15644,"Audiogenic epilepsy","audiogenic seizures"],[60582,"Auditory neuropathy-optic atrophy syndrome"],[2409,"auditory system disorder"],[19178,"Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome"],[107,"Auriculocondylar syndrome","Question mark ear syndrome"],[7177,"Auriculoosteodysplasia"],[5260,"autism"],[14361,"Autism spectrum disorder due to AUTS2 deficiency","ASD due to AUTS2 deficiency","AUTS2 syndrome"],[14248,"Autism spectrum disorder-epilepsy-arthrogryposis syndrome","SLC35A3-CDG","autism spectrum disorder - epilepsy - arthrogryposis syndrome"],[13970,"Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency","branched-chain keto acid dehydrogenase kinase deficiency"],[17943,"Autoerythrocyte sensitization syndrome","GDS","Gardner-Diamond syndrome","Painful bruising syndrome","Psychogenic purpura"],[18489,"Autoimmune encephalopathy with parasomnia and obstructive sleep apnea","Anti-IgLON5 disease","Anti-IgLON5 syndrome"],[19532,"Autoimmune hemolytic anemia, warm type","Warm AIHA","wAHA","wAIHA"],[18636,"Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency","Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II","Evans syndrome associated with primary immunodeficiency","TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease","TRIANGLE disease","autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome"],[16264,"Autoimmune hepatitis","AIH"],[5543,"Autoimmune hepatitis type 1","AIH type 1"],[21176,"Autoimmune hepatitis type 2","AIH type 2"],[18242,"Autoimmune hypoparathyroidism"],[14629,"Autoimmune interstitial lung disease-arthritis syndrome","COPA syndrome"],[850097,"Autoimmune limbic encephalitis","ALE"],[17979,"Autoimmune lymphoproliferative syndrome","ALPS","Canale-Smith syndrome"],[14493,"Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency","ALPS due to CTLA4 haploinsuffiency","CHAI","CTLA-4 haploinsufficiency with autoimmune infiltration disease","autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency"],[11804,"Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency","ALPS-recurrent viral infections due to CASP8 deficiency","Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency","CEDS","Caspase 8 deficiency syndrome","autoimmune lymphoproliferative syndrome type 2B"],[17227,"Autoimmune pancreatitis type 1","AIP type 1","IgG4-related pancreatitis","Lymphoplasmacytic sclerosing pancreatitis"],[17228,"Autoimmune pancreatitis type 2","AIP type 2","Duct-centric pancreatitis"],[17278,"Autoimmune polyendocrinopathy","APS","Autoimmune polyglandular syndrome"],[9411,"Autoimmune polyendocrinopathy type 1","APECED syndrome","APS type 1","APS1","Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome","Autoimmune polyendocrine syndrome type 1","Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome","Autoimmune polyglandular syndrome type 1","HAM syndrome","Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome","MEDAC syndrome","Multiple endocrine deficiency-Addison disease-candidiasis syndrome"],[10012,"Autoimmune polyendocrinopathy type 2","APS type 2","APS2","Autoimmune polyendocrine syndrome type 2","Autoimmune polyglandular syndrome type 2","Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome","Schmidt syndrome"],[16422,"Autoimmune polyendocrinopathy type 3","APS type 3","APS3","Autoimmune polyendocrine syndrome type 3","Autoimmune polyglandular syndrome type 3"],[16423,"Autoimmune polyendocrinopathy type 4","APS type 4","APS4","Autoimmune polyendocrine syndrome type 4","Autoimmune polyglandular syndrome type 4"],[12579,"Autoimmune pulmonary alveolar proteinosis","Autoimmune PAP","aPAP"],[13944,"Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation","APLAID"],[19751,"autoinflammatory syndrome"],[17992,"Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis"],[43975,"autonomic dysreflexia"],[8453,"Autosomal dominant adult-onset proximal spinal muscular atrophy","Autosomal dominant adult-onset proximal SMA","Autosomal dominant late-onset spinal muscular atrophy, Finkel type","Finkel disease","SMAFK","adult-onset proximal spinal muscular atrophy, autosomal dominant"],[7086,"Autosomal dominant Alport syndrome"],[13851,"Autosomal dominant aplasia and myelodysplasia","Autosomal dominant aplastic anemia and myelodysplasia"],[7232,"Autosomal dominant brachyolmia","Brachyolmia type 3"],[8048,"Autosomal dominant centronuclear myopathy","AD-CNM"],[11397,"Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome","ADCA-DN syndrome","Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome","autosomal dominant cerebellar ataxia, deafness and narcolepsy"],[44625,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation","CMT2 due to DGAT2 mutation"],[17940,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation","CMT2 due to KIF5A mutation"],[18567,"Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation","CMT2 due to TFG mutation"],[12411,"Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons","Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons","CMT2 with giant axons","HMSN2 with giant axons","giant axonal neuropathy 2"],[7308,"Autosomal dominant Charcot-Marie-Tooth disease type 2A1","CMT2A1","Charcot-Marie-Tooth disease type 2A1"],[12231,"Autosomal dominant Charcot-Marie-Tooth disease type 2A2","CMT2A2","Charcot-Marie-Tooth disease type 2A2"],[10949,"Autosomal dominant Charcot-Marie-Tooth disease type 2B","CMT2B","Charcot-Marie-Tooth disease type 2B"],[11633,"Autosomal dominant Charcot-Marie-Tooth disease type 2C","CMT2C","Charcot-Marie-Tooth disease axonal type 2C"],[11091,"Autosomal dominant Charcot-Marie-Tooth disease type 2D","CMT2D","Charcot-Marie-Tooth disease type 2D"],[54833,"Autosomal dominant Charcot-Marie-Tooth disease type 2DD","ATP1A1-related CMT2","ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2","CMT2DD","Charcot-Marie-tooth disease, axonal, type 2DD"],[11894,"Autosomal dominant Charcot-Marie-Tooth disease type 2E","CMT2E","Charcot-Marie-Tooth disease type 2E"],[11687,"Autosomal dominant Charcot-Marie-Tooth disease type 2F","CMT2F","Charcot-Marie-Tooth disease axonal type 2F"],[11889,"Autosomal dominant Charcot-Marie-Tooth disease type 2I","CMT2I","Charcot-Marie-Tooth disease type 2I"],[11903,"Autosomal dominant Charcot-Marie-Tooth disease type 2J","CMT2J","Charcot-Marie-Tooth disease type 2J"],[20558,"Autosomal dominant Charcot-Marie-Tooth disease type 2K","CMT2K"],[12096,"Autosomal dominant Charcot-Marie-Tooth disease type 2L","CMT2L","Charcot-Marie-Tooth disease axonal type 2L"],[16431,"Autosomal dominant Charcot-Marie-Tooth disease type 2M","CMT2M"],[13212,"Autosomal dominant Charcot-Marie-Tooth disease type 2N","CMT2N","Charcot-Marie-Tooth disease axonal type 2N"],[13644,"Autosomal dominant Charcot-Marie-Tooth disease type 2O","CMT2O","Charcot-Marie-Tooth disease axonal type 2O"],[14012,"Autosomal dominant Charcot-Marie-Tooth disease type 2Q","CMT2Q","Charcot-Marie-Tooth disease axonal type 2Q"],[14566,"Autosomal dominant Charcot-Marie-Tooth disease type 2U","Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation","CMT2U","Charcot-Marie-Tooth disease axonal type 2U"],[14665,"Autosomal dominant Charcot-Marie-Tooth disease type 2V","Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation","CMT2V","Hereditary adult-onset painful axonal polyneuropathy","Charcot-Marie-Tooth disease axonal type 2V"],[14711,"Autosomal dominant Charcot-Marie-Tooth disease type 2W","Autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation","CMT2W"],[14735,"Autosomal dominant Charcot-Marie-Tooth disease type 2Y","Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation","CMT2 due to VCP mutation","CMT2Y","Charcot-Marie-Tooth disease type 2Y"],[14736,"Autosomal dominant Charcot-Marie-Tooth disease type 2Z","Autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation","CMT2Z","Charcot-Marie-Tooth disease axonal type 2Z"],[18190,"Autosomal dominant childhood-onset proximal spinal muscular atrophy","Lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED"],[958120,"Autosomal dominant combined immunodeficiency due to ERBIN deficiency","AD-CID due to ERBIN deficiency","Autosomal dominant combined immunodeficiency due to erbb2 interacting protein deficiency"],[958117,"Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency","AD CID due to  partial GP130 deficiency","AD CID due to  partial IL6ST deficiency","Autosomal dominant combined immunodeficiency due to partial glycoprotein 130 deficiency","Autosomal dominant combined immunodeficiency due to partial interleukin 6 signal transducer protein deficiency"],[10839,"Autosomal dominant congenital benign spinal muscular atrophy","Autosomal dominant benign distal spinal muscular atrophy","Congenital benign spinal muscular atrophy with contractures","Congenital nonprogressive spinal muscular atrophy","neuronopathy, distal hereditary motor, autosomal dominant 8"],[19571,"Autosomal dominant cutis laxa","ADCL"],[7420,"Autosomal dominant deafness-onychodystrophy syndrome","Autosomal dominant hearing loss-onychodystrophy syndrome","DDOD syndrome","autosomal dominant deafness - onychodystrophy syndrome"],[8368,"Autosomal dominant distal renal tubular acidosis","AD dRTA"],[971063,"Autosomal dominant dopa-responsive dystonia"],[7471,"Autosomal dominant drusen","Doyne honeycomb retinal dystrophy"],[20336,"Autosomal dominant Emery-Dreifuss muscular dystrophy","EDMD2"],[20702,"Autosomal dominant epidermolytic ichthyosis","BCIE","Bullous congenital ichthyosiform erythroderma","Bullous congenital ichthyosiform erythroderma of Brock","Bullous ichthyosis","EHK","EI","Epidermolytic hyperkeratosis","Ichthyosis hystrix Brocq type"],[14033,"Autosomal dominant focal dystonia, DYT25 type","DYT25","Dystonia 25"],[14327,"Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering","palmoplantar keratoderma, nonepidermolytic, focal or diffuse"],[7549,"Autosomal dominant generalized dystrophic epidermolysis bullosa","generalized dominant dystrophic epidermolysis bullosa"],[7554,"Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form","Autosomal dominant generalized EBS, intermediate form","Epidermolysis bullosa simplex, Koebner type","Epidermolysis bullosa simplex, Köbner type","epidermolysis bullosa simplex 1B, generalized intermediate"],[7550,"Autosomal dominant generalized epidermolysis bullosa simplex, severe form","Autosomal dominant generalized EBS, severe form","Epidermolysis bullosa simplex herpetiformis","Epidermolysis bullosa simplex, Dowling-Meara type","epidermolysis bullosa simplex 1A, generalized severe"],[8185,"Autosomal dominant hereditary chronic pancreatitis","hereditary chronic pancreatitis"],[7818,"Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency","AD-HIES due to STAT3 deficiency","Autosomal dominant HIES due to STAT3 deficiency","Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency","Buckley syndrome","Job syndrome","hyper-IgE recurrent infection syndrome 1, autosomal dominant"],[17185,"Autosomal dominant hyperinsulinism due to Kir6.2 deficiency","Dominant KATP hyperinsulinism due to Kir6.2 deficiency","Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"],[17184,"Autosomal dominant hyperinsulinism due to SUR1 deficiency","Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency"],[18543,"Autosomal dominant hypocalcemia","AD hypocalcemia"],[15884,"Autosomal dominant hypohidrotic ectodermal dysplasia","AD-HED"],[8660,"Autosomal dominant hypophosphatemic rickets","ADHR","Autosomal dominant hypophosphatemia"],[7810,"autosomal dominant ichthyosis vulgaris"],[44323,"Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation","H1-4-related neurodevelopmental disorder","Rahman syndrome"],[11675,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type A","CMTDIA","Charcot-Marie-Tooth Disease, axonal, type 2GG"],[11674,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type B","CMTDIB","Charcot-Marie-Tooth disease dominant intermediate B"],[12012,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type C","CMTDIC","Charcot-Marie-Tooth disease dominant intermediate C"],[11909,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type D","CMTDID","Charcot-Marie-Tooth disease dominant intermediate D"],[13758,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type E","CMTDIE","Charcot-Marie-Tooth disease-nephropathy syndrome","Charcot-Marie-Tooth disease dominant intermediate E"],[14074,"Autosomal dominant intermediate Charcot-Marie-Tooth disease type F","CMTDIF","Charcot-Marie-Tooth disease dominant intermediate F"],[17937,"Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain","Autosomal dominant intermediate CMT disease with neuropathic pain"],[7478,"Autosomal dominant Kenny-Caffey syndrome"],[7848,"Autosomal dominant keratitis","Hereditary keratitis"],[13355,"Autosomal dominant KLF1-related dyserythropoietic anemia","Congenital dyserythropoietic anemia type IVa","Congenital dyserythropoietic anemia type 4a","CDA type IVa","CDA type 4a","congenital dyserythropoietic anemia type 4"],[15372,"Autosomal dominant macrothrombocytopenia"],[14429,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency","Autosomal dominant MSMD due to partial IFNgammaR1 deficiency","Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency","Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"],[17903,"Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","Autosomal dominant MSMD due to partial IFNgammaR2 deficiency","Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency","Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"],[14532,"Autosomal dominant mitochondrial myopathy with exercise intolerance"],[8338,"Autosomal dominant multiple pterygium syndrome","Distal arthrogryposis type 8","contractures, pterygia, and spondylocarpotarsal fusion syndrome 1A"],[8046,"Autosomal dominant myoglobinuria"],[18601,"Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome","Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome"],[8409,"Autosomal dominant myosin storage myopathy","MSMA","congenital myopathy 7A, myosin storage, autosomal dominant"],[100450,"Autosomal dominant neovascular inflammatory vitreoretinopathy","ADNIV","CAPN5-related vitreoretinopathy"],[19587,"Autosomal dominant non-syndromic genetic deafness","Autosomal dominant non-syndromic neurosensory hearing loss","Autosomal dominant non-syndromic sensorineural deafness","Autosomal dominant non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNA","Autosomal dominant isolated neurosensory deafness","Autosomal dominant isolated neurosensory hearing loss","Autosomal dominant isolated sensorineural deafness","Autosomal dominant isolated sensorineural hearing loss","Autosomal dominant non-syndromic genetic hearing loss","Autosomal dominant non-syndromic neurosensory deafness","autosomal dominant nonsyndromic hearing loss"],[15802,"Autosomal dominant non-syndromic intellectual disability"],[8123,"Autosomal dominant omodysplasia"],[8133,"Autosomal dominant optic atrophy and cataract","Autosomal dominant optic atrophy type 3","OPA3, autosomal dominant","optic atrophy 3"],[16646,"Autosomal dominant optic atrophy and peripheral neuropathy"],[14720,"Autosomal dominant optic atrophy plus syndrome"],[8134,"Autosomal dominant optic atrophy, classic form","Autosomal dominant optic atrophy, Kjer type","Kjer optic atrophy","Optic atrophy type 1"],[11877,"Autosomal dominant osteopetrosis type 1","autosomal dominant osteopetrosis 1"],[8490,"Autosomal dominant otospondylomegaepiphyseal dysplasia","otospondylomegaepiphyseal dysplasia, autosomal dominant"],[7083,"Autosomal dominant palmoplantar keratoderma and congenital alopecia","Autosomal dominant palmoplantar hyperkeratosis and congenital alopecia","PPK-CA, Stevanovic type","Palmoplantar keratoderma and congenital alopecia, Stevanovic type"],[4691,"Autosomal dominant polycystic kidney disease","ADPKD"],[10856,"Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis","PKDTS","TSC2/PKD1 contiguous gene syndrome","Tuberous sclerosis/polycystic kidney disease contiguous gene syndrome"],[7334,"Autosomal dominant popliteal pterygium syndrome","Facio-genito-popliteal syndrome","Popliteal web syndrome"],[18777,"Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome"],[7937,"Autosomal dominant primary hypomagnesemia with hypocalciuria","HOMG2","Isolated autosomal dominant hypomagnesemia","Isolated renal magnesium wasting","Renal hypomagnesemia type 2","renal hypomagnesemia 2"],[7988,"Autosomal dominant primary microcephaly"],[8312,"Autosomal dominant prognathism"],[8003,"Autosomal dominant progressive external ophthalmoplegia","adPEO"],[8071,"Autosomal dominant progressive nephropathy with hypertension"],[17829,"Autosomal dominant proximal renal tubular acidosis","AD pRTA"],[8389,"Autosomal dominant Robinow syndrome"],[16599,"Autosomal dominant secondary erythrocytosis","Autosomal dominant secondary polycythemia","obsolete autosomal dominant secondary polycythemia"],[8742,"Autosomal dominant severe congenital neutropenia"],[11998,"Autosomal dominant slowed nerve conduction velocity"],[7164,"Autosomal dominant spastic ataxia type 1","SPAX1","spastic ataxia 1"],[11408,"Autosomal dominant spastic paraplegia type 10","SPG10","hereditary spastic paraplegia 10"],[11489,"Autosomal dominant spastic paraplegia type 12","SPG12","hereditary spastic paraplegia 12"],[11532,"Autosomal dominant spastic paraplegia type 13","SPG13","hereditary spastic paraplegia 13"],[10043,"Autosomal dominant spastic paraplegia type 17","SPG17","Silver syndrome","Spastic paraplegia-amyotrophy of hands and feet","hereditary spastic paraplegia 17"],[11785,"Autosomal dominant spastic paraplegia type 19","SPG19","hereditary spastic paraplegia 19"],[12334,"Autosomal dominant spastic paraplegia type 29","SPG29","hereditary spastic paraplegia 29"],[8437,"Autosomal dominant spastic paraplegia type 3","Autosomal dominant spastic paraplegia type 3A","SPG3A","Strümpell disease","hereditary spastic paraplegia 3A"],[12453,"Autosomal dominant spastic paraplegia type 31","SPG31","hereditary spastic paraplegia 31"],[13132,"Autosomal dominant spastic paraplegia type 36","SPG36","hereditary spastic paraplegia 36"],[12766,"Autosomal dominant spastic paraplegia type 37","SPG37","hereditary spastic paraplegia 37"],[12867,"Autosomal dominant spastic paraplegia type 38","SPG38","hereditary spastic paraplegia 38"],[8438,"Autosomal dominant spastic paraplegia type 4","SPG4","hereditary spastic paraplegia 4"],[13239,"Autosomal dominant spastic paraplegia type 41","SPG41","hereditary spastic paraplegia 41"],[12928,"Autosomal dominant spastic paraplegia type 42","SPG42","hereditary spastic paraplegia 42"],[10878,"Autosomal dominant spastic paraplegia type 6","SPG6","hereditary spastic paraplegia 6"],[14568,"Autosomal dominant spastic paraplegia type 73","SPG73","hereditary spastic paraplegia 73"],[11339,"Autosomal dominant spastic paraplegia type 8","SPG8","hereditary spastic paraplegia 8"],[32737,"Autosomal dominant spastic paraplegia type 80","spastic paraplegia 80, autosomal dominant"],[11006,"Autosomal dominant spastic paraplegia type 9A","AD-SPG9A","Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome","Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome","hereditary spastic paraplegia 9A"],[18644,"Autosomal dominant spastic paraplegia type 9B","AD-SPG9B","autosomal dominant complex spastic paraplegia type 9B"],[15826,"Autosomal dominant spondylocostal dysostosis","Autosomal dominant spondylocostal dysplasia"],[211,"Autosomal dominant striatal neurodegeneration","ADSD","striatal degeneration, autosomal dominant"],[14830,"Autosomal dominant thrombocytopenia with platelet secretion defect","platelet-type bleeding disorder 20"],[8264,"Autosomal dominant tubulointerstitial kidney disease","ADTKD","Familial juvenile hyperuricemic nephropathy","MCKD","Medullary cystic kidney disease","autosomal dominant medullary cystic kidney disease with or without hyperuricemia"],[8662,"Autosomal dominant vitreoretinochoroidopathy","ADVIRC"],[19263,"Autosomal erythropoietic protoporphyria","EPP"],[15679,"Autosomal isolated thrombocytopenia with normal platelets size","obsolete autosomal thrombocytopenia with normal platelets"],[11096,"Autosomal non-syndromic agammaglobulinemia","Autosomal non-syndromic hypogammaglobulinemia","Non-syndromic agammaglobulinemia, non-Bruton type","autosomal agammaglobulinemia"],[8762,"Autosomal recessive Alport syndrome"],[15017,"Autosomal recessive anterior segment dysgenesis","anterior segment dysgenesis 8"],[16614,"Autosomal recessive ataxia due to PEX10 deficiency","Mild peroxisomal disorder due to PEX10 deficiency"],[957442,"Autosomal recessive ataxia due to PEX16 deficiency","Mild peroxisomal disorder due to PEX16 deficiency"],[957443,"Autosomal recessive ataxia due to PEX2 deficiency","Mild peroxisomal disorder due to PEX2 deficiency"],[12784,"Autosomal recessive ataxia due to ubiquinone deficiency","ARCA2","Autosomal recessive ataxia due to coenzyme Q10 deficiency","Autosomal recessive cerebellar ataxia type 2","Autosomal recessive spinocerebellar ataxia type 9","SCAR9"],[12549,"Autosomal recessive ataxia, Beauce type","ARCA1","Autosomal recessive cerebellar ataxia type 1","SCAR8"],[33850,"Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect","Autosomal recessive axonal CMT due to copper metabolism defect"],[7646,"Autosomal recessive axonal neuropathy with neuromyotonia","ARAN-NM","ARCMT2-NM","Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia","Gamstorp-Wohlfart syndrome"],[12733,"Autosomal recessive bestrophinopathy","Retinopathy, Burgess-Black type"],[18662,"Autosomal recessive brachyolmia"],[15705,"Autosomal recessive centronuclear myopathy","AR-CNM"],[20045,"Autosomal recessive cerebellar ataxia due to a DNA repair defect","obsolete autosomal recessive cerebellar ataxia due to a DNA repair defect"],[14503,"Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency","SCAR17","Spinocerebellar ataxia autosomal recessive type 17","autosomal recessive spinocerebellar ataxia 17"],[14339,"Autosomal recessive cerebellar ataxia due to STUB1 deficiency","SCAR16","Spinocerebellar ataxia autosomal recessive type 16","autosomal recessive spinocerebellar ataxia 16"],[18129,"Autosomal recessive cerebellar ataxia with late-onset spasticity","Autosomal recessive cerebellar ataxia due to GBA2 deficiency"],[14311,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency","Autosomal recessive spinocerebellar ataxia type 15","SCAR15","Salih ataxia","autosomal recessive spinocerebellar ataxia 15"],[14846,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency","SCAR23","Spinocerebellar ataxia autosomal recessive type 23","spinocerebellar ataxia, autosomal recessive 23"],[13687,"Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency","Autosomal recessive spinocerebellar ataxia type 12","SCAR12","autosomal recessive spinocerebellar ataxia 12"],[11811,"Autosomal recessive cerebellar ataxia-movement disorder syndrome","SCAR4","SCASI","autosomal recessive cerebellar ataxia-saccadic intrusion syndrome"],[13645,"Autosomal recessive cerebellar ataxia-psychomotor delay syndrome","Autosomal recessive spinocerebellar ataxia type 11","SCAR11","autosomal recessive spinocerebellar ataxia 11"],[18189,"Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome","autosomal recessive cerebellar ataxia - pyramidal signs - nystagmus - oculomotor apraxia syndrome"],[8943,"Autosomal recessive cerebelloparenchymal disorder type 3","Autosomal recessive spinocerebellar ataxia type 2","SCAR2","autosomal recessive spinocerebellar ataxia 2"],[18218,"Autosomal recessive cerebral atrophy"],[14726,"Autosomal recessive Charcot-Marie-Tooth disease type 2X","Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation","CMT2X","ARCMT2X","Charcot-Marie-Tooth disease axonal type 2X"],[11916,"Autosomal recessive Charcot-Marie-Tooth disease with hoarseness","ARCMT2K","Autosomal recessive axonal CMT4C4","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2K","Charcot-Marie-Tooth disease axonal type 2K"],[9624,"Autosomal recessive chorioretinopathy-microcephaly syndrome","Autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome","microcephaly and chorioretinopathy 1"],[958115,"Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency","AR CID due to complete GP130 deficiency","AR CID due to complete IL6ST deficiency","Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency","Stüve-Wiedemann syndrome type 2"],[958118,"Autosomal recessive combined immunodeficiency due to IL6R deficiency","AR CID due to IL6R deficiency","Autosomal recessive combined immunodeficiency due to  IL6 receptor protein deficiency"],[958116,"Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency","AR CID due to partial GP130 deficiency","AR CID due to partial IL6ST deficiency","Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency","Autosomal recessive combined immunodeficiency due to partial glycoprotein 130 deficiency"],[44737,"Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction","Autosomal recessive complex SPG due to Kennedy pathway dysfunction","Autosomal recessive spastic paraplegia type 81"],[14530,"Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency","Autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency","SCAR18","autosomal recessive spinocerebellar ataxia 18"],[13905,"Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency","Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency","Autosomal recessive spinocerebellar ataxia type 13","SCAR13","autosomal recessive spinocerebellar ataxia 13"],[19572,"Autosomal recessive cutis laxa type 1","ARCL1","Autosomal recessive cutis laxa with severe systemic involvement","Autosomal recessive cutis laxa, pulmonary emphysema type"],[9054,"Autosomal recessive cutis laxa type 2, classic type","ARCL2, Debré type","ARCL2, classic type","Autosomal recessive cutis laxa type 2, Debré type"],[18163,"Autosomal recessive cutis laxa type 2A","ARCL2A"],[13051,"Autosomal recessive cutis laxa type 2B","ARCL2, progeroid type","ARCL2B","Autosomal recessive cutis laxa type 2, progeroid type"],[18371,"Autosomal recessive distal nebulin myopathy","Nebulin-related early-onset distal myopathy"],[9810,"Autosomal recessive distal osteolysis syndrome","Distal osteolysis-short stature-intellectual disability syndrome","Petit-Fryns syndrome"],[18440,"Autosomal recessive distal renal tubular acidosis"],[11551,"Autosomal recessive dopa-responsive dystonia","Autosomal recessive Segawa syndrome","DYT5b","Tyrosine hydroxylase deficiency","Tyrosine hydroxylase-deficient dopa-responsive dystonia","TH-deficient dopa-responsive dystonia"],[14676,"Autosomal recessive Emery-Dreifuss muscular dystrophy","EDMD3","Emery-Dreifuss muscular dystrophy 3, autosomal recessive"],[44742,"Autosomal recessive epidermolytic ichthyosis","AREI"],[29144,"Autosomal recessive extra-oral halitosis","MTO-deficiency","Methanethiol oxidase deficiency","extraoral halitosis due to methanethiol oxidase deficiency"],[9209,"Autosomal recessive faciodigitogenital syndrome","Aarskog-like syndrome","Facio-digito-genital syndrome, Kuwait type","Teebi-Naguib-Alawadi syndrome"],[12462,"Autosomal recessive frontotemporal pachygyria"],[19522,"Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form","recessive dystrophic epidermolysis bullosa-generalized other"],[9179,"Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form","Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis","Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type","Generalized RDEB, severe form","RDEB generalisata gravis","RDEB, Hallopeau-Siemens type","Severe generalized RDEB","recessive dystrophic epidermolysis bullosa"],[10976,"Autosomal recessive generalized epidermolysis bullosa simplex","Autosomal recessive generalized EBS","epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive"],[979356,"Autosomal recessive hereditary chronic pancreatitis"],[32654,"Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency","AR-HIES due to ZNF341 deficiency","Autosomal recessive HIES due to ZNF341 deficiency","Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency","hyper-IgE recurrent infection syndrome 3, autosomal recessive"],[19334,"Autosomal recessive hyperinsulinism due to Kir6.2 deficiency","Autosomal recessive hyperinsulinemic hypoglycemia due to Kir6.2 deficiency"],[19333,"Autosomal recessive hyperinsulinism due to SUR1 deficiency","Autosomal recessive hyperinsulinemic hypoglycemia due to SUR1 deficiency"],[16619,"Autosomal recessive hypohidrotic ectodermal dysplasia","AR-HED"],[17324,"Autosomal recessive hypophosphatemic rickets","ARHR"],[212,"Autosomal recessive infantile hypercalcemia","Familial infantile hypercalcemia with suppressed intact parathyroid hormone","IIH","Idiopathic infantile hypercalcemia","Infantile hypercalcaemia type 1","hypercalcemia, infantile"],[12014,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type A","RI-CMT type A","Charcot-Marie-Tooth disease recessive intermediate A"],[13338,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type B","RI-CMT type B","Charcot-Marie-Tooth disease recessive intermediate B"],[14154,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type C","RI-CMT type C","Charcot-Marie-Tooth disease recessive intermediate C"],[14467,"Autosomal recessive intermediate Charcot-Marie-Tooth disease type D","RI-CMT type D","Charcot-Marie-Tooth disease recessive intermediate D"],[14753,"Autosomal recessive isolated optic atrophy","Autosomal recessive non-syndromic optic atrophy","obsolete autosomal recessive optic atrophy"],[9486,"Autosomal recessive Kenny-Caffey syndrome"],[11463,"Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy","polyneuropathy, lethal neonatal, axonal sensorimotor, autosomal recessive"],[17804,"Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome"],[957270,"Autosomal recessive limb-girdle muscular dystrophy, type 28","LGMD, type 28","LGMDR28","Limb-girdle, type 28R","muscular dystrophy, limb-girdle, autosomal recessive 28"],[12608,"Autosomal recessive lower motor neuron disease with childhood onset","Autosomal recessive distal spinal muscular atrophy type 4","Distal spinal muscular atrophy type 4","dSMA4","neuronopathy, distal hereditary motor, autosomal recessive 4"],[19026,"Autosomal recessive malignant osteopetrosis","Infantile malignant osteopetrosis","autosomal recessive osteopetrosis"],[17901,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency","Autosomal recessive MSMD due to partial IFNgammaR1 deficiency","Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency"],[17902,"Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency","Autosomal recessive MSMD due to partial IFNgammaR2 deficiency","Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency","Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency"],[18963,"Autosomal recessive methemoglobinemia","hereditary methemoglobinemia"],[9926,"Autosomal recessive multiple pterygium syndrome","Autosomal recessive non-lethal multiple pterygium syndrome","EVMPS","Escobar syndrome","Escobar variant multiple pterygium syndrome"],[17892,"Autosomal recessive myogenic arthrogryposis multiplex congenita","Autosomal recessive myogenic AMC","SYNE1-related AMC","SYNE1-related arthrogryposis multiplex congenita"],[9708,"Autosomal recessive myosin storage myopathy","MSMB","myopathy, myosin storage, autosomal recessive"],[29051,"Autosomal recessive nail dysplasia","obsolete autosomal recessive nail dysplasia"],[19588,"Autosomal recessive non-syndromic genetic deafness","Autosomal recessive isolated neurosensory deafness","Autosomal recessive isolated neurosensory hearing loss","Autosomal recessive isolated sensorineural deafness","Autosomal recessive isolated sensorineural hearing loss","Autosomal recessive non-syndromic genetic hearing loss","Autosomal recessive non-syndromic neurosensory deafness","Autosomal recessive non-syndromic neurosensory hearing loss","Autosomal recessive non-syndromic sensorineural deafness","Autosomal recessive non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNB","hearing loss, autosomal recessive"],[19502,"Autosomal recessive non-syndromic intellectual disability","AR-NSID","NS-ARID"],[40653,"autosomal recessive ocular albinism"],[9779,"Autosomal recessive omodysplasia","Micromelic dysplasia-dislocation of radius syndrome"],[13069,"Autosomal recessive optic atrophy, OPA7 type"],[8975,"Autosomal recessive otospondylomegaepiphyseal dysplasia","OSMED","otospondylomegaepiphyseal dysplasia"],[8923,"Autosomal recessive palmoplantar keratoderma and congenital alopecia","Autosomal recessive palmoplantar hyperkeratosis and congenital alopecia","Cataract-alopecia-sclerodactyly syndrome","PPK-CA, Wallis type","Palmoplantar keratoderma and congenital alopecia, Wallis type"],[9889,"Autosomal recessive polycystic kidney disease","AR-PKD"],[14313,"Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity","Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity","CD16 deficiency"],[16660,"Autosomal recessive primary microcephaly"],[16810,"Autosomal recessive progressive external ophthalmoplegia","arPEO"],[11422,"Autosomal recessive proximal renal tubular acidosis","AR pRTA","Proximal renal tubular acidosis with ocular abnormalities and intellectual disability"],[9999,"Autosomal recessive Robinow syndrome","COVESDEM syndrome","Costovertebral segmentation defect-mesomelia syndrome","RRS"],[16598,"Autosomal recessive secondary erythrocytosis not associated with VHL gene","Autosomal recessive secondary erythrocytosis, non-Chuvash type","Autosomal recessive secondary erythrocytosis not associated with von Hippel-Lindau gene","Autosomal recessive secondary polycythemia, non-Chuvash type","Autosomal recessive secondary polycythemia not associated with von Hippel-Lindau gene","Autosomal recessive secondary polycythemia not associated with VHL gene"],[14865,"Autosomal recessive severe congenital neutropenia due to CSF3R deficiency"],[18487,"Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency"],[16828,"Autosomal recessive sideroblastic anemia","ARSA","Congenital sideroblastic anemia"],[10041,"Autosomal recessive spastic ataxia of Charlevoix-Saguenay","Charlevoix-Saguenay spastic ataxia"],[12664,"Autosomal recessive spastic ataxia with leukoencephalopathy","ARSAL","Autosomal recessive spastic ataxia type 3","SPAX3","spastic ataxia 3"],[13354,"Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome","Autosomal recessive spastic ataxia type 4","SPAX4","spastic ataxia 4"],[11445,"Autosomal recessive spastic paraplegia type 11","hereditary spastic paraplegia 11"],[11522,"Autosomal recessive spastic paraplegia type 14","SPG14","hereditary spastic paraplegia 14"],[10156,"Autosomal recessive spastic paraplegia type 20","Childhood-onset spastic paraparesis-distal muscle wasting syndrome","SPG20","Troyer syndrome"],[9568,"Autosomal recessive spastic paraplegia type 21","Mast syndrome","SPG21"],[10046,"Autosomal recessive spastic paraplegia type 23","Lison syndrome","SPG23","hereditary spastic paraplegia 23"],[11862,"Autosomal recessive spastic paraplegia type 24","SPG24","hereditary spastic paraplegia 24"],[11992,"Autosomal recessive spastic paraplegia type 25","Autosomal recessive spastic paraplegia-disc herniation syndrome","SPG25","hereditary spastic paraplegia 25"],[12213,"Autosomal recessive spastic paraplegia type 26","GM2 synthase deficiency","SPG26","hereditary spastic paraplegia 26"],[12181,"Autosomal recessive spastic paraplegia type 27","SPG27","hereditary spastic paraplegia 27"],[12256,"Autosomal recessive spastic paraplegia type 28","SPG28","hereditary spastic paraplegia 28"],[12643,"Autosomal recessive spastic paraplegia type 32","SPG32","hereditary spastic paraplegia 32"],[12866,"Autosomal recessive spastic paraplegia type 35","SPG35","hereditary spastic paraplegia 35"],[12787,"Autosomal recessive spastic paraplegia type 39","SPG39","Spastic paraplegia due to NTE mutation","Spastic paraplegia due to neuropathy target esterase mutation","hereditary spastic paraplegia 39"],[14024,"Autosomal recessive spastic paraplegia type 43","SPG43","hereditary spastic paraplegia 43"],[13179,"Autosomal recessive spastic paraplegia type 44","SPG44","hereditary spastic paraplegia 44"],[13165,"Autosomal recessive spastic paraplegia type 45","Autosomal recessive spastic paraplegia type 65","SPG45","SPG65","hereditary spastic paraplegia 45"],[13737,"Autosomal recessive spastic paraplegia type 46","SPG46","hereditary spastic paraplegia 46"],[13342,"Autosomal recessive spastic paraplegia type 48","SPG48","hereditary spastic paraplegia 48"],[13962,"Autosomal recessive spastic paraplegia type 53","SPG53","hereditary spastic paraplegia 53"],[14018,"Autosomal recessive spastic paraplegia type 54","SPG54","hereditary spastic paraplegia 54"],[14020,"Autosomal recessive spastic paraplegia type 55","SPG55","hereditary spastic paraplegia 55"],[14015,"Autosomal recessive spastic paraplegia type 56","SPG56","hereditary spastic paraplegia 56"],[14295,"Autosomal recessive spastic paraplegia type 57","SPG57","Spastic paraplegia due to partial TFG deficiency","hereditary spastic paraplegia 57"],[18416,"Autosomal recessive spastic paraplegia type 59","SPG59"],[10047,"Autosomal recessive spastic paraplegia type 5A","SPG5A","hereditary spastic paraplegia 5A"],[18417,"Autosomal recessive spastic paraplegia type 60","SPG60"],[14304,"Autosomal recessive spastic paraplegia type 61","SPG61","hereditary spastic paraplegia 61"],[14302,"Autosomal recessive spastic paraplegia type 62","SPG62","hereditary spastic paraplegia 62"],[14305,"Autosomal recessive spastic paraplegia type 63","SPG63","hereditary spastic paraplegia 63"],[14303,"Autosomal recessive spastic paraplegia type 64","SPG64","hereditary spastic paraplegia 64"],[18418,"Autosomal recessive spastic paraplegia type 66","SPG66"],[18419,"Autosomal recessive spastic paraplegia type 67","SPG67"],[18421,"Autosomal recessive spastic paraplegia type 69","SPG69"],[18422,"Autosomal recessive spastic paraplegia type 70","SPG70"],[18423,"Autosomal recessive spastic paraplegia type 71","SPG71"],[14644,"Autosomal recessive spastic paraplegia type 74","SPG74","hereditary spastic paraplegia 74"],[14729,"Autosomal recessive spastic paraplegia type 75","SPG75","hereditary spastic paraplegia 75"],[14827,"Autosomal recessive spastic paraplegia type 76","SPG76"],[14882,"Autosomal recessive spastic paraplegia type 77","SPG77","hereditary spastic paraplegia 77"],[14975,"Autosomal recessive spastic paraplegia type 78","SPG78"],[32906,"Autosomal recessive spastic paraplegia type 82","spastic paraplegia 82, autosomal recessive"],[33614,"Autosomal recessive spastic paraplegia type 83","spastic paraplegia 83, autosomal recessive"],[30482,"Autosomal recessive spastic paraplegia type 84","spastic paraplegia 84, autosomal recessive"],[30512,"Autosomal recessive spastic paraplegia type 85","spastic paraplegia 85, autosomal recessive"],[30673,"Autosomal recessive spastic paraplegia type 86","spastic paraplegia 86, autosomal recessive"],[31019,"Autosomal recessive spastic paraplegia type 87","spastic paraplegia 87, autosomal recessive"],[14702,"Autosomal recessive spastic paraplegia type 9B","AR-SPG9B","autosomal recessive complex spastic paraplegia type 9B"],[13931,"Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome","Autosomal recessive spinocerebellar ataxia type 3","Autosomal recessive spinocerebellar ataxia-blindness-hearing loss syndrome","SCABD","SCAR3","peroxisome biogenesis disorder 4B"],[10180,"Autosomal recessive spondylocostal dysostosis","Jarcho-Levin syndrome"],[13223,"Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type","autosomal recessive spondylometaphyseal dysplasia, Megarbane type"],[16647,"Autosomal recessive Stickler syndrome","obsolete autosomal recessive Stickler syndrome"],[17230,"Autosomal semi-dominant severe lipodystrophic laminopathy"],[12639,"Autosomal spastic paraplegia type 18","SPG18","hereditary spastic paraplegia 18"],[12476,"Autosomal spastic paraplegia type 30","SPG30","hereditary spastic paraplegia 30"],[12651,"Autosomal spastic paraplegia type 58","Autosomal spastic ataxia type 2","SPAX2","SPG58","spastic ataxia 2"],[14282,"Autosomal spastic paraplegia type 72","SPG72","hereditary spastic paraplegia 72"],[13743,"Autosomal systemic lupus erythematosus","autosomal systemic lupus erythematosus type 16"],[18695,"Avian influenza"],[2027,"avoidant personality disorder"],[7770002,"avoidant/restrictive food intake disorder"],[20368,"Axenfeld anomaly"],[19187,"Axenfeld-Rieger syndrome","Axenfeld syndrome","Rieger syndrome"],[15944,"Axial mesodermal dysplasia spectrum","Blastogenesis defect","Russell-Weaver-Bull syndrome"],[11211,"Axial spondylometaphyseal dysplasia"],[18426,"AXIN2-related polyposis","AXIN2-related adenomatous polyposis","AXIN2-related attenuated familial adenomatous polyposis"],[11049,"Aymé-Gripp syndrome","Fine-Lubinsky syndrome"],[100459,"azoospermia"],[20450,"Azygos continuation of the inferior vena cava","Azygos continuation of the IVC","Azygos continuation of the inferior caval vein","Inferior vena cava interruption with azygos continuation"],[4948,"B-cell chronic lymphocytic leukemia","B-CLL","B-cell chronic lymphoid leukemia","CLL","CLL/SLL","Chronic lymphocytic leukemia","Small lymphocytic lymphoma"],[12243,"B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome","BILU syndrome","Hoffman syndrome","B-cell immunodeficiency, distal limb anomalies, and urogenital malformations"],[19461,"B-cell prolymphocytic leukemia","B-PLL"],[35943,"B-lymphoblastic leukemia/lymphoma with hyperdiploidy"],[35944,"B-lymphoblastic leukemia/lymphoma with hypodiploidy","Hypodiploid ALL"],[35942,"B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)","B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1","B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1"],[600030,"B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)","B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1","B-cell acute lymphoblastic leukemia with t(1;19)(q23;p13.3); E2A-PBX1 (TCF3-PBX1)"],[35945,"B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)","B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH"],[35940,"B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)","B-ALL with t(9;22)(q34.1;q11.2)","BCR-ABL1-like B-ALL","Philadelphia chromosome-like B-ALL"],[35941,"B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)","B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged","B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged"],[14139,"B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome","B3GALT6-related spEDS","B3GALT6-related spondylodysplastic EDS","Beta3GalT6-deficient EDS","Ehlers-Danlos syndrome progeroid type 2","spEDS-B3GALT6","Ehlers-Danlos syndrome, spondylodysplastic type, 2"],[11772,"B4GALT1-CDG","Beta-1,4-galactosyltransferase deficiency","CDG syndrome type IId","CDG-IId","CDG2D","Carbohydrate deficient glycoprotein syndrome type IId","Congenital disorder of glycosylation type 2d","Congenital disorder of glycosylation type IId","B4GALT1-congenital disorder of glycosylation"],[20682,"B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome","B4GALT7-related spondylodysplastic EDS","EDS progeroid type 1","EDS with short stature and limb anomalies","spEDS-B4GALT7","Ehlers-Danlos syndrome, spondylodysplastic type, 1"],[3956,"Baastrup syndrome"],[5661,"Babesiosis"],[1114,"bacterial myocarditis"],[16127,"Bacterial myositis"],[1881,"Bacterial toxic-shock syndrome","Bacterial TSS","toxic shock syndrome"],[13061,"BAG3-related myofibrillar myopathy","MFM6","Myofibrillar myopathy type 6","myofibrillar myopathy 6"],[1540,"bagassosis"],[14205,"Bainbridge-Ropers syndrome","Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome"],[6672,"balanitis"],[1618,"balanoposthitis"],[5662,"Balantidiasis","Balantidiosis","Ciliary dysentery"],[18211,"Balint syndrome","Balint-Holmes syndrome","Optic ataxia-gaze apraxia-simultanagnosia syndrome"],[7416,"Balkan nephropathy"],[9039,"Baller-Gerold syndrome"],[16430,"Baló concentric sclerosis","Concentric demyelination","Balo concentric sclerosis"],[9437,"Bamforth-Lazarus syndrome","Athyroidal hypothyroidism-spiky hair-cleft palate syndrome","Bamforth syndrome","Hypothyroidism-cleft palate syndrome"],[9016,"band keratopathy"],[8874,"Bangstad syndrome","Ataxia-diabetes-goiter-gonadal insufficiency syndrome"],[7185,"Banki syndrome"],[7924,"Bannayan-Riley-Ruvalcaba syndrome","BRRS","Myhre-Riley-Smith syndrome"],[13692,"BAP1-related tumor predisposition syndrome","Tumor susceptibility linked to germline BAP1 mutations"],[17579,"Baraitser-Winter cerebrofrontofacial syndrome"],[8853,"Barber-Say syndrome","Hypertrichosis-atrophic skin-ectropion-macrostomia syndrome"],[15229,"Bardet-Biedl syndrome","BBS"],[18617,"Baroreflex failure"],[5663,"Barre-Lieou syndrome"],[13662,"Barrett esophagus"],[10543,"Barth syndrome","3-methylglutaconic aciduria type 2","BTHS","Cardioskeletal myopathy with neutropenia and abnormal mitochondria","Cardioskeletal myopathy-neutropenia syndrome","MGA2","X-linked cardioskeletal myopathy and neutropenia"],[4593,"Bartholin duct cyst"],[18984,"Bartonella bacilliformis infection","Bartonellosis due to infection with Bartonella bacilliformis","Carrion disease","Oroya fever"],[5664,"bartonellosis"],[9901,"Bartsocas-Papas syndrome","Bartsocas-Papas syndrome 1"],[15231,"Bartter syndrome"],[100344,"Bartter syndrome type 1","Bartter syndrome type I","Bartter disease type 1"],[9424,"Bartter syndrome type 2","Bartter syndrome type II","Bartter disease type 2"],[11822,"Bartter syndrome type 3","Bartter syndrome type III","Bartter disease type 3"],[19524,"Bartter syndrome type 4"],[10503,"Bartter syndrome type 5","Bartter syndrome type V","Transient antenatal Bartter syndrome","Bartter disease type 5"],[17082,"Basal encephalocele"],[14643,"Basel-Vanagaite-Smirin-Yosef syndrome","congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome"],[15085,"Bathing suit ichthyosis","BSI"],[10535,"Bazex-Dupré-Christol syndrome","Bazex-Dupre-Christol syndrome","Bazex syndrome","Acrokeratosis of Bazex","Acrokeratosis paraneoplastica","Acrokeratosis paraneoplastica of Bazex"],[10311,"Becker muscular dystrophy","BMD","Becker dystrophinopathy"],[11500,"Becker nevus syndrome","Becker melanosis","Becker naevus syndrome","Pigmentary hairy epidermal nevus","Pigmented hairy epidermal naevus","Pigmented hairy epidermal nevus"],[7534,"Beckwith-Wiedemann syndrome","BWS","Exomphalos-macroglossia-gigantism syndrome","Wiedemann-Beckwith syndrome"],[16477,"Beckwith-Wiedemann syndrome due to 11p15 microdeletion"],[19875,"Beckwith-Wiedemann syndrome due to 11p15 microduplication"],[16478,"Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion"],[16476,"Beckwith-Wiedemann syndrome due to CDKN1C mutation"],[16475,"Beckwith-Wiedemann syndrome due to imprinting defect of 11p15"],[19923,"Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11","Mosaic paternal uniparental disomy of chromosome 11","UPD(11)pat"],[8857,"Beemer-Ertbruggen syndrome","Lethal hydrocephalus-cardiac malformation-dense bones syndrome"],[17160,"Behavioral variant of frontotemporal dementia","bv-FTD"],[8858,"Behr syndrome","Behr complicated familial optic atrophy"],[7191,"Behçet disease","Behcet disease"],[1714,"bejel"],[5665,"Bell's palsy"],[7711,"Bencze syndrome","Hemifacial hyperplasia-strabismus syndrome"],[15533,"Benign cephalic histiocytosis"],[7934,"Benign concentric annular macular dystrophy"],[6105,"benign conjunctival neoplasm"],[6734,"benign duodenal neoplasm"],[17168,"Benign epithelial tumor of salivary glands"],[11728,"benign essential blepharospasm"],[15471,"Benign focal seizures of adolescence","Adolescent benign focal crisis","BFSA"],[1595,"Benign hereditary chorea","BHC","Benign familial chorea","choreatic disease"],[2354,"benign laryngeal neoplasm"],[44983,"benign lipomatous neoplasm"],[4808,"benign mammary dysplasia"],[18738,"Benign metanephric tumor"],[5165,"benign neoplasm"],[21511,"benign neoplasm of adrenal gland"],[21465,"benign neoplasm of appendix"],[21464,"benign neoplasm of cecum"],[21487,"benign neoplasm of choroid"],[21486,"benign neoplasm of ciliary body"],[21452,"benign neoplasm of cornea"],[21473,"benign neoplasm of epididymis"],[21459,"benign neoplasm of esophagus"],[21520,"benign neoplasm of floor of mouth"],[21450,"benign neoplasm of heart"],[21461,"benign neoplasm of hypopharynx"],[21496,"benign neoplasm of lip"],[21522,"benign neoplasm of lower jaw bone"],[21521,"benign neoplasm of mediastinum"],[21527,"benign neoplasm of meninges"],[21478,"benign neoplasm of nasopharynx"],[21470,"benign neoplasm of pancreas"],[21463,"benign neoplasm of parathyroid gland"],[21494,"benign neoplasm of parotid gland"],[21458,"benign neoplasm of penis"],[21439,"benign neoplasm of pituitary gland"],[21510,"benign neoplasm of prostate"],[21462,"benign neoplasm of rectum"],[21467,"benign neoplasm of renal pelvis"],[21453,"benign neoplasm of retina"],[21472,"benign neoplasm of scrotum"],[21506,"benign neoplasm of spinal cord"],[21449,"benign neoplasm of stomach"],[21447,"benign neoplasm of testis"],[21512,"benign neoplasm of thymus"],[21476,"benign neoplasm of tongue"],[21513,"benign neoplasm of tonsil"],[21517,"benign neoplasm of trachea"],[16209,"Benign nocturnal alternating hemiplegia of childhood","benign familial nocturnal alternating hemiplegia of childhood"],[8206,"Benign paroxysmal tonic upgaze of childhood with ataxia","Ouvrier-Billson syndrome"],[19113,"Benign paroxysmal torticollis of infancy"],[10811,"benign prostatic hyperplasia"],[19008,"Benign recurrent intrahepatic cholestasis","BRIC","Summerskill-Walshe-Tygstrup syndrome"],[9469,"Benign recurrent intrahepatic cholestasis type 1","BRIC type 1","BRIC1"],[11559,"Benign recurrent intrahepatic cholestasis type 2","BRIC type 2","BRIC2"],[17936,"Benign Samaritan congenital myopathy"],[2546,"Benign schwannoma","Neurilemmoma","Neurilemoma","Peripheral fibroblastoma","schwannoma"],[2085,"benign shuddering attacks"],[6107,"benign thyroid gland neoplasm"],[645,"Benign tumor of fallopian tubes","fallopian tube benign neoplasm"],[4177,"benign urethral neoplasm"],[647,"benign vaginal neoplasm"],[14645,"BENTA disease","B-cell expansion with NF-kB and T-cell anergy disease"],[6676,"beriberi"],[9276,"Bernard-Soulier syndrome","Hemorrhagiparous thrombocytic dystrophy","Giant platelet syndrome"],[7931,"Best vitelliform macular dystrophy","vitelliform macular dystrophy 2"],[8760,"Beta-ketothiolase deficiency","3-ketothiolase deficiency","3-oxothiolase deficiency","Alpha methylacetoacetic aciduria","Alpha-methyl-acetoacetyl-CoA thiolase deficiency","Mitochondrial acetoacetyl-coenzyme A thiolase deficiency","T2 deficiency"],[9562,"Beta-mannosidosis","Beta-mannosidase deficiency"],[9585,"Beta-mercaptolactate cysteine disulfiduria","3-mercaptopyruvate sulfurtransferase deficiency","Ampola syndrome","MCDU","encephalopathy due to beta-mercaptolactate-cysteine disulfiduria"],[10476,"Beta-propeller protein-associated neurodegeneration","BPAN","NBIA5","Neurodegeneration with brain iron accumulation type 5","SENDA","Static encephalopathy of childhood with neurodegeneration in adulthood","neurodegeneration with brain iron accumulation 5"],[11423,"Beta-sarcoglycan-related limb-girdle muscular dystrophy R4","Autosomal recessive limb-girdle muscular dystrophy type 2E","Beta-sarcoglycan-related LGMD R4","Beta-sarcoglycanopathy","LGMD due to beta-sarcoglycan deficiency","LGMD type 2E","LGMD2E","Limb-girdle muscular dystrophy due to beta-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2E"],[19402,"Beta-thalassemia","beta thalassemia"],[17145,"Beta-thalassemia and related disorders","beta-thalassemia and related diseases"],[16487,"Beta-thalassemia intermedia","Beta-NTDT","Non-transfusion dependent beta-thalassemia"],[16486,"Beta-thalassemia major","Beta transfusion dependent thalassemia","Beta-TDT","Cooley anemia","Mediterranean anemia"],[10745,"Beta-thalassemia-X-linked thrombocytopenia syndrome","XLTT"],[13164,"Beta-ureidopropionase deficiency","Beta-alanine synthase deficiency"],[8029,"Bethlem muscular dystrophy","Bethlem myopathy","LGMD D5 collagen 6-related dystrophy","LGMD D5 collagen VI-related dystrophy","LGMD R22 collagen 6-related dystrophy","LGMD R22 collagen VI-related dystrophy","Mild form of COL6-related dystrophy","Mild form of collagen VI-related dystrophy"],[14121,"BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy","BICD2-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy with contractures","SMALED2","autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures"],[15835,"Bicervical bicornuate uterus and blind hemivagina"],[15836,"Bicervical bicornuate uterus with patent cervix and vagina"],[19208,"Bickerstaff brainstem encephalitis"],[15842,"Bicornuate uterus"],[8864,"Biemond syndrome type 2","Hypogonadism-short stature-coloboma-preaxial polydactyly syndrome"],[8865,"Bietti crystalline dystrophy","BCD","Bietti crystalline corneoretinal dystrophy","Bietti crystalline retinopathy"],[110,"Bifid nose"],[8637,"Bifid uvula","Bifidity of the uvula","Uvular cleft"],[9855,"Bifunctional enzyme deficiency","d-bifunctional protein deficiency"],[19074,"Bilateral acute depigmentation of the iris","BADI"],[971131,"Bilateral diffuse uveal melanocytic proliferation disease","BDUMP","Paraneoplastic uveal melanocytic hyperplasia"],[16162,"Bilateral frontal polymicrogyria"],[11738,"Bilateral frontoparietal polymicrogyria"],[13907,"Bilateral generalized polymicrogyria"],[17871,"Bilateral massive adrenal hemorrhage","BMAH","Bilateral adrenal hemorrhage"],[12854,"Bilateral microtia-deafness-cleft palate syndrome","Bilateral microtia-hearing loss-cleft palate syndrome"],[19982,"Bilateral multicystic dysplastic kidney","Bilateral MCDK","Bilateral multicystic renal dysplasia"],[12986,"Bilateral parasagittal parieto-occipital polymicrogyria"],[20340,"Bilateral perisylvian polymicrogyria"],[17091,"Bilateral polymicrogyria"],[8947,"Bilateral striopallidodentate calcinosis","BSPDC","Cerebrovascular ferrocalcinosis","Idiopathic basal ganglia calcification","PFBC","Primary familial brain calcification"],[17165,"Bile acid CoA ligase deficiency and defective amidation"],[16577,"Biliary atresia with splenic malformation syndrome","BASM syndrome"],[18535,"Biliary cystadenocarcinoma","Intrahepatic bile duct cystadenocarcinoma"],[18477,"Bilirubin encephalopathy","Kernicterus"],[5582,"binge eating disorder"],[9665,"Biotinidase deficiency","Juvenile-onset multiple carboxylase deficiency","Late-onset multiple carboxylase deficiency"],[18228,"Bipartite talus"],[4985,"bipolar disorder"],[693,"bipolar II disorder"],[5668,"bird fancier's lung"],[11599,"Birdshot chorioretinopathy","Birdshot chorioretinitis","Birdshot retinochoroiditis","Birdshot retinochoroidopathy","Vitiliginous choroiditis"],[12856,"Birk-Barel syndrome","Birk-Barel Intellectual Disability-Dimorphism syndrome","Intellectual disability-hypotonia-facial dysmorphism syndrome","KCNK9 imprinting syndrome"],[800445,"Birt-Hogg-Dubé syndrome","Hornstein-Knickenberg syndrome","Birt-Hogg-Dube syndrome 1"],[9872,"Björnstad syndrome","Bjornstad syndrome"],[5669,"black piedra"],[384,"bladder benign neoplasm"],[4703,"bladder carcinoma in situ"],[7197,"bladder diverticulum"],[6679,"bladder neck obstruction"],[20351,"Blake pouch cyst"],[19467,"Blastic plasmacytoid dendritic cell neoplasm","BPDCN","CD4+/CD56+ hematodermic neoplasm"],[5672,"blastomycosis"],[8523,"Blau syndrome"],[19138,"Bleeding diathesis due to a collagen receptor defect","obsolete bleeding diathesis due to a collagen receptor defect"],[13623,"Bleeding diathesis due to glycoprotein VI deficiency","platelet-type bleeding disorder 11"],[13622,"Bleeding diathesis due to integrin alpha2-beta1 deficiency","platelet-type bleeding disorder 9"],[14386,"Bleeding disorder due to CalDAG-GEFI deficiency","Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency","platelet-type bleeding disorder 18"],[12354,"Bleeding disorder due to P2Y12 defect","Bleeding disorder due to ADP platelet receptor P2Y12 defect","platelet-type bleeding disorder 8"],[15787,"Bleeding disorder in hemophilia A carriers","symptomatic form of hemophilia A in female carriers"],[15788,"Bleeding disorder in hemophilia B carriers","symptomatic form of hemophilia B in female carriers"],[4785,"blepharitis"],[7339,"Blepharo-cheilo-odontic syndrome","BCD syndrome","Blepharocheilodontic syndrome","Clefting-ectropion-conical teeth syndrome","Ectropion inferior-cleft lip and/or palate syndrome","Elschnig syndrome","Lagophthalmia-cleft lip and palate syndrome"],[2660,"blepharochalasis"],[2307,"blepharoconjunctivitis"],[7200,"Blepharonasofacial malformation syndrome","Pashayan syndrome","Pashayan-Pruzansky syndrome"],[1008,"blepharophimosis"],[10477,"Blepharophimosis-intellectual disability syndrome, MKB type","BMRS, MKB type","BMRS, Maat-Kievit-Brunner type","Blepharophimosis-intellectual disability syndrome, Maat-Kievit-Brunner type","X-linked Ohdo syndrome","blepharophimosis - intellectual disability syndrome, MKB type"],[9583,"Blepharophimosis-intellectual disability syndrome, Ohdo type","BMRS, Ohdo type","Blepharophimosis syndrome, Ohdo type","Ohdo syndrome","Ohdo-Madokoro-Sonoda syndrome","blepharophimosis - intellectual disability syndrome, Ohdo type"],[11365,"Blepharophimosis-intellectual disability syndrome, SBBYS type","Hypothyroidism-dysmorphism-postaxial polydactyly-intellectual disability syndrome","SBBYS variant of Ohdo syndrome","SBBYSS","Say-Barber-Biesecker-Young-Simpson syndrome","blepharophimosis - intellectual disability syndrome, SBBYS type"],[11432,"Blepharophimosis-intellectual disability syndrome, Verloes type","BMRS type V","BMRS, Verloes type","Blepharophimosis-intellectual disability syndrome type V","blepharophimosis - intellectual disability syndrome, Verloes type"],[35707,"Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome"],[7201,"Blepharophimosis-ptosis-epicanthus inversus syndrome","blepharophimosis, ptosis, and epicanthus inversus syndrome"],[35521,"Blepharophimosis-ptosis-epicanthus inversus syndrome plus","3q23 microdeletion syndrome","BPES plus"],[35524,"Blepharophimosis-ptosis-epicanthus inversus syndrome type 1","BPES type 1","Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure"],[35525,"Blepharophimosis-ptosis-epicanthus inversus syndrome type 2","BPES type 2","Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure"],[8875,"Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome","Frydman-Cohen-Karmon syndrome"],[7202,"Blepharoptosis-myopia-ectopia lentis syndrome"],[19772,"Blepharospasm-oromandibular dystonia syndrome","Meige dystonia","Meige syndrome"],[1454,"Blessig's cysts"],[1941,"blindness (disorder)"],[12907,"Blindness-scoliosis-arachnodactyly syndrome","blindness - scoliosis - arachnodactyly syndrome"],[8970,"Blomstrand lethal chondrodysplasia","BLC","BOCD","Blomstrand chondrodysplasia","Blomstrand osteochondrodysplasia","Chondrodysplasia, Blomstrand type","chondrodysplasia Blomstrand type"],[8876,"Bloom syndrome","BSyn"],[17194,"Blount disease","Infantile tibia vara","Osteochondrosis deformans tibiae","Tibia vara Blount"],[10563,"Blue cone monochromatism","Atypical X-linked achromatopsia","Blue cone monochromacy","Color blindness, blue monocone monochromatic type","S cone monochromacy","S cone monochromatism","X-linked incomplete achromatopsia"],[8877,"Blue diaper syndrome","Drummond syndrome","Familial hypercalcemia-nephrocalcinosis-indicanuria syndrome"],[7203,"Blue rubber bleb nevus syndrome","BRBN","Bean syndrome","blue rubber bleb nevus"],[12165,"BNAR syndrome","Bifid nose with or without anorectal and renal anomalies"],[690,"body dysmorphic disorder"],[850100,"Body integrity dysphoria","BID","BIID","Body integrity identity disorder"],[12570,"Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency","PXE-like syndrome","Pseudoxanthoma elasticum-like syndrome"],[11510,"Bohring-Opitz syndrome","BOS syndrome","Bohring syndrome","C-like syndrome","Oberklaid-Danks syndrome","Opitz trigonocephaly-like syndrome"],[17875,"Bolivian hemorrhagic fever","Machupo hemorrhagic fever"],[5381,"bone disorder"],[5382,"bone Paget disease"],[9167,"Bonnemann-Meinecke-Reich syndrome","Encephalopathy-intracerebral calcification-retinal degeneration syndrome"],[7208,"Boomerang dysplasia"],[7029,"BOR syndrome","Branchiootorenal spectrum disorder","Branchiootorenal syndrome","Melnick-Fraser syndrome","branchio-oto-renal syndrome"],[5125,"borderline leprosy"],[1156,"borderline personality disorder"],[1353,"Bordetella parapertussis infectious disease"],[10537,"Borjeson-Forssman-Lehmann syndrome","BFLS","Intellectual disability-epilepsy-endocrine disorders syndrome"],[957421,"Borna virus encephalitis","Bornavirus encephalitis"],[19075,"Bosley-Salih-Alorainy syndrome"],[11838,"Bothnia retinal dystrophy","Västerbotten dystrophy"],[400006,"botryomycosis"],[5498,"Botulism"],[8879,"Bowen-Conradi syndrome","Bowen syndrome, Hutterite type"],[60596,"BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome","BPTF-related NEDDFL","BPTF-related Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies","neurodevelopmental disorder with dysmorphic facies and distal limb anomalies"],[13232,"Brachydactylous dwarfism, Mseleni type","Mseleni joint disease"],[7215,"Brachydactyly type A1","Brachydactyly, Farabee type"],[7216,"Brachydactyly type A2","Brachydactyly, Mohr-Wriedt type"],[7218,"Brachydactyly type A4","Brachydactyly, Temtamy type","Brachymesophalangy II and V"],[7219,"Brachydactyly type A6","Acromesomelic dysplasia, Osebold-Remondini type","Osebold-Remondini syndrome"],[19679,"Brachydactyly type A7","Brachydactyly, Smorgasbord type"],[19676,"Brachydactyly type B"],[7220,"Brachydactyly type B1"],[12658,"Brachydactyly type B2"],[7221,"Brachydactyly type C"],[19677,"Brachydactyly type E"],[7211,"Brachydactyly-arterial hypertension syndrome","Bilginturan brachydactyly","Bilginturan syndrome","Brachydactyly type E, with short stature and hypertension"],[8520,"Brachydactyly-elbow wrist dysplasia syndrome","Brachydactyly-joint dysplasia syndrome","Liebenberg syndrome"],[7212,"Brachydactyly-long thumb syndrome","Brachydactyly, long thumb type"],[15259,"Brachydactyly-mesomelia-intellectual disability-heart defects syndrome","Stratton-Garcia-Young syndrome"],[7226,"Brachydactyly-nystagmus-cerebellar ataxia syndrome","Biemond syndrome"],[7214,"Brachydactyly-preaxial hallux varus syndrome"],[9598,"Brachydactyly-short stature-retinitis pigmentosa syndrome","metaphyseal chondrodysplasia-retinitis pigmentosa syndrome"],[12544,"Brachydactyly-syndactyly, Zhao type","brachydactyly-syndactyly syndrome"],[7230,"Brachymorphism-onychodysplasia-dysphalangism syndrome","BOD syndrome","Senior syndrome"],[13360,"Brachyolmia, Maroteaux type","Brachyolmia type 2"],[11018,"Brachyolmia-amelogenesis imperfecta syndrome","Platyspondyly-amelogenesis imperfecta syndrome","Verloes-Bourguignon syndrome"],[10555,"Brachytelephalangic chondrodysplasia punctata","X-linked chondrodysplasia punctata 1"],[7231,"Brachytelephalangy-dysmorphism-Kallmann syndrome"],[12032,"Braddock syndrome","Vater-like syndrome with pulmonary hypertension, abnormal ears and growth deficiency"],[12033,"Bradyopsia","PERRS","Prolonged electroretinal response suppression"],[13266,"Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome","MEF2C-related syndrome","Neurodevelopmental disorder-hypotonia-stereotypic hand movements-impaired language","neurodevelopmental disorder with hypotonia, stereotypic hand movements, and impaired language"],[7154,"Brain arteriovenous malformation, nidus type","Cerebral arteriovenous malformation","arteriovenous malformations of the brain"],[1657,"brain cancer"],[1291,"brain compression"],[18130,"Brain dopamine-serotonin vesicular transport disease"],[19153,"Brain malformation-congenital heart disease-postaxial polydactyly syndrome","Goossens-Devriendt syndrome"],[12593,"Brain-lung-thyroid syndrome","Choreoathetosis-hypothyroidism-neonatal respiratory distress syndrome"],[2912,"brainstem cancer"],[7235,"Branchio-oculo-facial syndrome","BOFS","branchiooculofacial syndrome"],[12209,"Branchiogenic deafness syndrome","Branchiogenic hearing loss syndrome","Mégarbané-Loiselet syndrome"],[18878,"Branchiootic syndrome"],[8885,"Branchioskeletogenital syndrome","Elsahy-Waters syndrome"],[1936,"brawny scleritis"],[17877,"Brazilian hemorrhagic fever","Sabia hemorrhagic fever"],[620,"breast benign neoplasm"],[7254,"breast cancer"],[4658,"breast carcinoma in situ"],[2657,"breast disorder"],[5219,"breast fibrocystic disease"],[6118,"breast fibrosis"],[850112,"Breast implant-associated anaplastic large cell lymphoma","Breast implant-associated ALCL","Seroma-associated ALCL"],[19414,"BRESEK syndrome","BRESHECK syndrome"],[5680,"Brill-Zinsser disease","Brill disease","Recrudescent typhus"],[9242,"Brittle cornea syndrome","Ehlers-Danlos syndrome type 6B"],[10977,"Brody myopathy"],[19963,"Bronchial neuroendocrine tumor","Bronchial NET","bronchial endocrine tumor"],[4822,"bronchiectasis"],[15265,"Bronchiolitis obliterans","Constrictive bronchiolitis","Obliterative bronchiolitis","bronchiolitis obliterans syndrome"],[16523,"Bronchogenic cyst"],[19091,"Bronchopulmonary dysplasia","BPD"],[11512,"Brooke-Spiegler syndrome","CYLD cutaneous syndrome"],[14624,"Brown syndrome"],[3754,"Brown-Sequard syndrome"],[5683,"Brucellosis"],[17195,"Bruck syndrome","Osteogenesis imperfecta-congenital joint contractures syndrome"],[15263,"Brugada syndrome","Ventricular fibrillation, Brugada type"],[2443,"bruxism"],[1112,"bubonic plague"],[10947,"Budd-Chiari syndrome","BCS"],[8889,"Buerger disease","Thromboangiitis obliterans"],[5452,"bulimia nervosa"],[17243,"Bullous diffuse cutaneous mastocytosis","Bullous DCM"],[18182,"Bullous impetigo"],[1180,"bullous keratopathy"],[18056,"Bullous lichen planus"],[19082,"Bullous pemphigoid"],[35237,"Bullous pyoderma gangrenosum","Phemphigoid pyoderma gangrenosum"],[7243,"Burkitt lymphoma","Small non-cleaved cell lymphoma"],[43519,"burn"],[12064,"Burn-McKeown syndrome","choanal atresia-hearing loss-cardiac defects-craniofacial dysmorphism syndrome"],[6687,"Burning mouth syndrome","BMS","Oral dysesthesia","Orodynia","Stomatodynia","Stomatopyrosis"],[100466,"Butterfly-shaped pigment dystrophy","Butterfly-shaped pattern dystrophy","Butterfly-shaped pigmentary macular dystrophy"],[14782,"BVES-related limb-girdle muscular dystrophy","Autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome","BVES-related LGMD","LGMD R25 BVES-related","LGMD type 2X","LGMD2X","Limb-girdle muscular dystrophy 2X","autosomal recessive limb-girdle muscular dystrophy type 2X"],[6688,"byssinosis"],[7207,"Böök syndrome"],[8893,"C syndrome","OTCS","Opitz C trigonocephaly","Opitz trigonocephaly C syndrome","Opitz trigonocephaly syndrome","Trigonocephaly C syndrome"],[44642,"C11ORF73-related autosomal recessive hypomyelinating leukodystrophy","C11ORF73-related autosomal recessive hypomyelinating leukoencephalopathy","Hypomyelinating leukodystrophy due to hikeshi deficiency"],[13892,"C3 glomerulonephritis"],[18013,"C3 glomerulopathy","Non-Ig-mediated MPGN","Non-Ig-mediated membranoproliferative glomerulonephritis","Non-immunoglobulin-mediated MPGN","Non-immunoglobulin-mediated membranoproliferative glomerulonephritis","complement 3 glomerulopathy"],[800448,"CACH syndrome","Childhood ataxia with diffuse central nervous system hypomyelination","Leukoencephalopathy with vanishing white matter","Myelinosis centralis diffusa"],[14647,"CAD-CDG","CDG syndrome type Iz","CDG-Iz","CDG1Z","Carbohydrate deficient glycoprotein syndrome type Iz","Congenital disorder of glycosylation type 1z","developmental and epileptic encephalopathy, 50"],[914,"CADASIL","Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy","Hereditary multi-infarct dementia","cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1"],[18247,"CADDS","Contiguous ABCD1 DXS1357E deletion syndrome","Zellweger-like contiguous gene deletion syndrome"],[850070,"CADINS disease","CARD11-associated atopy with dominant interference of NF-kB signaling syndrome"],[7244,"Caffey disease","Infantile cortical hyperostosis"],[1903,"calcific tendinitis"],[16038,"Calcifying aponeurotic fibroma","Juvenile aponeurotic fibromatosis","Keasby tumor","calcified aponeurotic fibroma"],[17215,"Calciphylaxis"],[17216,"Calciphylaxis cutis"],[979362,"Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy","Mild calf-predominant myopathy"],[29133,"Calpain-3-related limb-girdle muscular dystrophy D4","LGMD type D4","LGMD1I","Limb-girdle muscular dystrophy type D4","muscular dystrophy, limb-girdle, autosomal dominant 4"],[9675,"Calpain-3-related limb-girdle muscular dystrophy R1","Autosomal recessive limb-girdle muscular dystrophy type 2A","Calpain-3-related LGMD R1","LGMD type 2A","LGMD2A","Limb-girdle muscular dystrophy due to calpain deficiency","Limb-girdle muscular dystrophy type 2A","Primary calpainopathy"],[7470,"Calvarial doughnut lesions-bone fragility syndrome","Familial doughnut lesions of skull"],[19374,"CAMOS syndrome","Cerebellar ataxia-intellectual disability-optic atrophy-skin abnormalities syndrome","SCAR5"],[8896,"Campomelia, Cumming type","Cumming syndrome"],[7251,"Campomelic dysplasia","Campomelic dwarfism"],[7249,"Camptobrachydactyly"],[7250,"Camptodactyly of fingers"],[8898,"Camptodactyly syndrome, Guadalajara type 1"],[8899,"Camptodactyly syndrome, Guadalajara type 2"],[12759,"Camptodactyly syndrome, Guadalajara type 3"],[8828,"Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome","Arthropathy-camptodactyly syndrome","CACP syndrome","Pericarditis-arthropathy-camptodactyly syndrome","camptodactyly-arthropathy-coxa vara-pericarditis syndrome"],[8900,"Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome","Goodman camptodactyly","camptodactyly with fibrous tissue hyperplasia and skeletal dysplasia"],[11262,"Camptodactyly-joint contractures-facial skeletal defects syndrome","Rozin camptodactyly syndrome","camptodactyly, myopia, and fibrosis of the medial rectus muscle of eye"],[12504,"Camptodactyly-tall stature-scoliosis-hearing loss syndrome","CATSHL syndrome","Camptodactyly-tall stature-scoliosis-deafness syndrome"],[15272,"Camptodactyly-taurinuria syndrome","Familial streblodactyly with amino-aciduria"],[7542,"Camurati-Engelmann disease","Progressive diaphyseal dysplasia"],[10079,"Canavan disease","ACY2 deficiency","Aminoacylase 2 deficiency","Aspartoacylase deficiency","Spongy degeneration of the brain"],[24311,"cancer affecting bone of limb skeleton"],[21317,"cancer of cerebellum"],[952,"cancer of long bone of lower limb"],[953,"cancer of short bone of lower limb"],[24312,"cancer of short bone of upper limb"],[858997,"Cancer of unknown primary site","CUP","Carcinoma of unknown primary","Carcinoma of unknown primary origin","Metastases without primary tumor"],[19112,"Cancer-associated retinopathy","CAR syndrome","Paraneoplastic retinopathy"],[2026,"candidiasis"],[5689,"cannabis dependence"],[19109,"CANOMAD syndrome","CANDA syndrome","Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome","Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies"],[9406,"Cantú syndrome","hypertrichotic osteochondrodysplasia Cantu type"],[15753,"Cap myopathy","Cap disease"],[15565,"Cap polyposis","Cap inflammatory polyposis","Eroded polypoid hyperplasia","Inflammatory myoglandular polyps","Polypoid prolapsing folds"],[12016,"Capillary malformation-arteriovenous malformation","CM-AVM","capillary malformation-arteriovenous malformation syndrome"],[7864,"Capillary-lymphatic-venous malformation with segmental distribution","CLVM with segmental distribution","KTS","Klippel-Trénaunay syndrome","angioosteohypertrophic syndrome"],[980711,"CARASAL","Cathepsin A-related arteriopathy-strokes-leukoencephalopathy","brain small vessel disease 6 with leukoencephalopathy"],[9376,"Carbamoyl-phosphate synthetase 1 deficiency","CPS1 deficiency","CPS1D","Carbamoyl-phosphate synthetase I deficiency","Carbamoyl-phosphate synthetase deficiency","carbamoyl phosphate synthetase I deficiency disease"],[16258,"Carcinofibroma of the corpus uteri","uterine corpus carcinofibroma"],[100347,"Carcinoid syndrome","Malignant carcinoid syndrome"],[18480,"Carcinoma of esophagus, salivary gland type"],[17590,"Carcinoma of the ampulla of Vater","Ampulloma","Ampullary carcinoma"],[2877,"Carcinosarcoma of the cervix uteri","Cervical carcinosarcoma","Cervical malignant Müllerian mixed tumor","Malignant Müllerian mixed tumor of the cervix uteri"],[16259,"Carcinosarcoma of the corpus uteri","Malignant mixed Müllerian tumor of the corpus uteri","Mixed Müllerian cancer of corpus uteri","Uterine carcinosarcoma"],[15296,"Cardiac anomalies-heterotaxy syndrome"],[16460,"Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome","PHD syndrome","Polyvalvular heart disease syndrome","TAB2-related syndrome"],[745,"cardiac arrest"],[15677,"Cardiac diverticulum"],[1297,"cardiac tamponade"],[32653,"Cardiac-urogenital syndrome","MYRF-related cardiac urogenital syndrome"],[9159,"Cardiac-valvular Ehlers-Danlos syndrome","Cardiac-valvular EDS","cvEDS","Ehlers-Danlos syndrome, cardiac valvular type"],[9036,"Cardiocranial syndrome, Pfeiffer type","Craniosynostosis-congenital heart disease-intellectual disability syndrome","Pfeiffer-Singer-Zschiesche syndrome"],[15280,"Cardiofaciocutaneous syndrome","CFC syndrome"],[800175,"Cardiogenic shock"],[4994,"cardiomyopathy"],[15282,"Cardiomyopathy-cataract-hip spine disease syndrome","Krasnow-Qazi syndrome"],[12557,"Cardiomyopathy-hypotonia-lactic acidosis syndrome"],[8005,"Cardiospondylocarpofacial syndrome","Forney syndrome","Forney-Robinson-Pascoe syndrome","Mitral regurgitation-deafness-skeletal anomalies syndrome","Mitral regurgitation-hearing loss-skeletal anomalies syndrome"],[4995,"cardiovascular disorder"],[31415,"Carey-Fineman-Ziter syndrome","Myopathy-Moebius-Robin syndrome"],[19977,"Caribbean parkinsonism","Atypical parkinsonism in the Caribbean","parkinsonism with dementia of Guadeloupe"],[15285,"Carney complex"],[12137,"Carney complex-trismus-pseudocamptodactyly syndrome","Carney complex variant","Carney complex - trismus - pseudocamptodactyly syndrome"],[11424,"Carney triad"],[11740,"Carney-Stratakis syndrome","Carney dyad","Carney-Stratakis dyad","GIST-paraganglioma dyad","Paraganglioma and gastric stromal sarcoma"],[9705,"Carnitine palmitoyl transferase 1A deficiency","CPT1A deficiency","Carnitine palmitoyl transferase IA deficiency","Hepatic carnitine palmitoyl transferase 1 deficiency","Hepatic carnitine palmitoyl transferase I deficiency","L-CPT1 deficiency","L-CPTI deficiency"],[9704,"Carnitine palmitoyl transferase II deficiency, myopathic form","Carnitine palmitoyl transferase II deficiency, adult-onset form","Carnitine palmitoyl transferase deficiency type 2, adult-onset form","Carnitine palmitoyl transferase deficiency type 2, myopathic form","CPT2, adult-onset form","CPT2, myopathic form","CPTII, adult-onset form","CPTII, myopathic form"],[12136,"Carnitine palmitoyl transferase II deficiency, neonatal form","CPT2, lethal systemic form","CPT2, neonatal form","CPTII, lethal systemic form","CPTII, neonatal form","Carnitine palmitoyl transferase II deficiency, lethal systemic form","Carnitine palmitoyl transferase deficiency type 2, lethal systemic form","Carnitine palmitoyl transferase deficiency type 2, neonatal form"],[10914,"Carnitine palmitoyl transferase II deficiency, severe infantile form","CPTII, severe infantile form","Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form","Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form","Carnitine palmitoyl transferase deficiency type 2, severe infantile form","CPT2, hepatocardiomuscular form","CPT2, severe infantile form","CPTII, hepatocardiomuscular form"],[15515,"Carnitine palmitoyltransferase II deficiency","CPT2","CPTII","Carnitine palmitoyltransferase deficiency type 2"],[8918,"Carnitine-acylcarnitine translocase deficiency","CACT deficiency"],[8921,"Carnosinase deficiency","carnosinemia"],[10913,"Caroli disease"],[18808,"Caroli syndrome"],[4763,"carotid artery dissection"],[979323,"Carotid web","AFMD","Atypical FMD","Atypical fibromuscular dysplasia","CaW","Carotid diaphragm"],[7275,"carpal tunnel syndrome"],[19012,"Carpenter syndrome","ACPS2","Acrocephalopolysyndactyly type 2"],[7490,"Carpotarsal osteochondromatosis","Maroteaux-Le Merrer-Bensahel syndrome"],[9595,"Cartilage-hair hypoplasia"],[11581,"Carvajal syndrome","KWWH type II","Keratoderma with woolly hair type II","Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome","Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome","arrhythmogenic cardiomyopathy with wooly hair and keratoderma"],[15564,"Castleman disease"],[7276,"Cat-eye syndrome","CES"],[5692,"Cat-scratch disease","Bartonellosis due to Bartonella henselae infection"],[7277,"Cataract-aberrant oral frenula-growth delay syndrome","Wellesley-Carman-French syndrome"],[8928,"Cataract-ataxia-deafness syndrome","Cataract-ataxia-hearing loss syndrome"],[32715,"Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome","ZBTB11-related neurodevelopmental disorder","intellectual developmental disorder, autosomal recessive 69"],[11995,"Cataract-congenital heart disease-neural tube defect syndrome","cataract - congenital heart disease - neural tube defect syndrome"],[15325,"Cataract-deafness-hypogonadism syndrome","Cataract-hearing loss-hypogonadism syndrome","Schaap-Taylor-Baraitser syndrome"],[14455,"Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome","CAGSSS"],[8894,"Cataract-hypertrichosis-intellectual disability syndrome","CAHMR syndrome"],[8000008,"Cataract-intellectual disability-hypogonadism syndrome","Martsolf syndrome","Martsolf syndrome 1"],[15300,"Cataract-microcornea syndrome","cataract - microcornea syndrome"],[9045,"Cataract-nephropathy-encephalopathy syndrome","Crome syndrome"],[18737,"Catastrophic antiphospholipid syndrome","CAPS","Catastrophic APS"],[17990,"Catecholaminergic polymorphic ventricular tachycardia","Bidirectional ventricular tachycardia induced by catecholamine","CPVT","Malignant paroxysmal ventricular tachycardia","Polymorphic ventricular tachycardia induced by catecholamines"],[37738,"cauda equina cancer"],[5693,"cauda equina syndrome"],[15233,"Caudal appendage-deafness syndrome","Caudal appendage-hearing loss syndrome","Lynch-Lee-Murday syndrome"],[11928,"Caudal duplication","Dipygus","Split notochord syndrome"],[17607,"Caudal regression syndrome","caudal regression sequence"],[15623,"Cavitary myiasis"],[14789,"CCDC115-CDG","CDG syndrome type IIo","CDG-IIo","CDG2O","Carbohydrate deficient glycoprotein syndrome type IIo","Congenital disorder of glycosylation type 2o","Congenital disorder of glycosylation type IIo"],[35775,"CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome"],[44302,"CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome","CDK13-related disorder","congenital heart defects, dysmorphic facial features, and intellectual developmental disorder"],[100039,"CDKL5 disorder"],[10396,"CDKL5-deficiency disorder","CDD","developmental and epileptic encephalopathy, 2"],[35437,"CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome","CAIN"],[2033,"cecum cancer"],[12290,"CEDNIK syndrome","Cerebral dysgenesis-neuropathy-ichthyosis-palmoplantar keratoderma syndrome"],[17388,"Celiac artery compression syndrome","Dunbar syndrome","MALS","Median arcuate ligament syndrome","celiac trunk compression syndrome"],[5130,"celiac disease"],[9187,"Celiac disease-epilepsy-cerebral calcification syndrome","CEC"],[35499,"CELSR1-related late-onset primary lymphedema"],[8931,"Cenani-Lenz syndrome","Cenani syndactyly","Cenani-Lenz syndactyly","Syndactyly type 7","Cenani-Lenz syndactyly syndrome"],[8982,"Central areolar choroidal dystrophy","Areolar atrophy of the macula","CACD","Central areolar choroidal sclerosis"],[9018,"Central cloudy dystrophy of François","CCDF","Central cloudy corneal dystrophy of François"],[7294,"Central core disease","central core myopathy"],[4918,"central corneal ulcer"],[20022,"central nervous system malformation"],[19134,"Central neurocytoma"],[17456,"Central polydactyly","central polydactyly of fingers"],[6692,"central pontine myelinolysis"],[1633,"Central retinal artery occlusion","CRAO"],[2303,"central retinal vein occlusion"],[18616,"Central serous chorioretinopathy","CSCR"],[19552,"Centrifugal lipodystrophy","Lipodystrophia centrifugalis abdominalis infantilis"],[18947,"centronuclear myopathy"],[17078,"Cephalocele"],[1260,"cercarial dermatitis"],[16136,"Cerebellar ataxia with peripheral neuropathy","obsolete cerebellar ataxia with peripheral neuropathy"],[11025,"Cerebellar ataxia, Cayman type","Cayman ataxia","Cayman type cerebellar ataxia"],[11038,"Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome","CAPOS syndrome","Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural deafness syndrome"],[8934,"Cerebellar ataxia-ectodermal dysplasia syndrome"],[8935,"Cerebellar ataxia-hypogonadism syndrome","Gordon-Holmes syndrome","Luteinizing hormone-releasing hormone deficiency with ataxia"],[35819,"Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome","CIMDAG syndrome"],[16392,"Cerebellar hypoplasia-tapetoretinal degeneration syndrome"],[6131,"Cerebellar liponeurocytoma"],[14529,"Cerebellar-facial-dental syndrome","Cerebellofaciodental syndrome"],[44643,"Cerebello-oculo-facio-genital syndrome","Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome","COFG syndrome","Congenital agenesis of labia majora or scrotum-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome"],[6694,"cerebral atherosclerosis"],[10829,"Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy","CARASIL","Maeda syndrome","cerebral arteriopathy, autosomal recessive, with subcortical infarcts and leukoencephalopathy 2"],[2679,"cerebral infarction"],[6497,"cerebral palsy"],[979258,"Cerebral proliferative angiopathy","CPA","Diffuse nidus arteriovenous malformation","Holohemispheric giant cerebral arteriovenous malformation","Proliferative angiopathy"],[17993,"Cerebral sinovenous thrombosis","CSVT"],[3584,"Cerebral visual impairment","Cortical visual impairment","visual cortex disorder"],[7301,"Cerebrocostomandibular syndrome"],[15405,"Cerebrofacial arteriovenous metameric syndrome"],[17813,"Cerebrofacioarticular syndrome","Van Maldergem syndrome"],[800436,"Cerebrofaciothoracic dysplasia","craniofacial dysmorphism, skeletal anomalies, and impaired intellectual development 1"],[11575,"Cerebrooculonasal syndrome"],[43327,"cerebrospinal fluid leak"],[8948,"Cerebrotendinous xanthomatosis","CTX","Sterol 27-hydroxylase deficiency"],[11057,"cerebrovascular disorder"],[12650,"Cernunnos-XLF deficiency","Cernunnos XLFD","Cernunnos deficiency","Combined immunodeficiency-microcephaly-growth retardation-sensitivity to ionizing radiation syndrome","NHEJ1 deficiency"],[20374,"Cerulean cataract","Blue-dot cataract"],[2974,"cervical cancer"],[15379,"Cervical dermoid cyst","Dermoid cyst of the neck"],[9405,"Cervical hypertrichosis-peripheral neuropathy syndrome"],[751,"cervical polyp"],[7303,"cervical rib disease"],[2345,"cervicitis"],[5699,"cervicofacial actinomycosis"],[15383,"Cervicofacial fibrochondroma"],[5844,"chalazion"],[1797,"chancroid"],[8959,"CHAND syndrome","Baughman syndrome","CHANDS","Curly hair-ankyloblepharon-nail dysplasia syndrome"],[20369,"Chandler syndrome"],[968986,"Chaotic conus spinal cord lipoma"],[17878,"Chapare hemorrhagic fever"],[8209,"Char syndrome","Patent ductus arteriosus with facial dysmorphism and abnormal fifth digits"],[7309,"Charcot-Marie-Tooth disease type 1A","CMT1A","Microduplication 17p12"],[7307,"Charcot-Marie-Tooth disease type 1B","CMT1B"],[10995,"Charcot-Marie-Tooth disease type 1C","CMT1C"],[11890,"Charcot-Marie-Tooth disease type 1D","CMT1D"],[7311,"Charcot-Marie-Tooth disease type 1E","CMT1E","Charcot-Marie-Tooth disease-deafness syndrome","Charcot-Marie-Tooth disease-hearing loss syndrome"],[11902,"Charcot-Marie-Tooth disease type 1F","CMT1F"],[11569,"Charcot-Marie-Tooth disease type 2B1","AR-CMT2B1","Autosomal recessive Charcot-Marie-Tooth disease type 2B1","Autosomal recessive axonal CMT4C1"],[11570,"Charcot-Marie-Tooth disease type 2B2","AR-CMT2B2","Autosomal recessive axonal CMT4C3","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2"],[16454,"Charcot-Marie-Tooth disease type 2B5","Autosomal recessive Charcot-Marie-Tooth disease type 2B5","SEOAN due to NEFL deficiency","Severe early-onset axonal neuropathy due to NEFL deficiency","Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency","AR-CMT2B5"],[11901,"Charcot-Marie-Tooth disease type 2H","AR-CMT2C","Autosomal recessive axonal CMT4C2","Axonal Charcot-Marie-Tooth disease with pyramidal involvement","CMT2H","Charcot-Marie-Tooth disease axonal type 2H"],[13753,"Charcot-Marie-Tooth disease type 2P","Charcot-Marie-Tooth disease axonal type 2P"],[14208,"Charcot-Marie-Tooth disease type 2R","CMT2R"],[14511,"Charcot-Marie-Tooth disease type 2S","CMT2S","Charcot-Marie-Tooth disease axonal type 2S"],[44640,"Charcot-Marie-Tooth disease type 2T","AR-CMT2T","Autosomal recessive axonal Charcot-Marie-Tooth disease type 2T","CMT2T"],[8961,"Charcot-Marie-Tooth disease type 4A","CMT4A"],[11066,"Charcot-Marie-Tooth disease type 4B1","CMT4B1"],[11475,"Charcot-Marie-Tooth disease type 4B2","CMT4B2"],[14117,"Charcot-Marie-Tooth disease type 4B3","CMT4B3","Charcot-Marie-Tooth disease with focally folded myelin"],[11113,"Charcot-Marie-Tooth disease type 4C","CMT4C"],[11085,"Charcot-Marie-Tooth disease type 4D","CMT4D","HMSN, Lom type","HMSN-Lom","Hereditary motor and sensory neuropathy, Lom type"],[11527,"Charcot-Marie-Tooth disease type 4E","Autosomal recessive congenital hypomyelinating neuropathy","CMT4E"],[13959,"Charcot-Marie-Tooth disease type 4F","CMT4F"],[11534,"Charcot-Marie-Tooth disease type 4G","CMT4G","HMSNR","Hereditary motor and sensory neuropathy, Russe Type"],[12250,"Charcot-Marie-Tooth disease type 4H","CMT4H"],[12640,"Charcot-Marie-Tooth disease type 4J","CMT4J"],[8960,"Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome","CMT-deafness-intellectual disability syndrome","Charcot-Marie-Tooth disease-hearing loss-intellectual disability syndrome","Hereditary motor and sensory neuropathy with deafness, intellectual disability and absent sensory large myelinated fibers","Hereditary motor and sensory neuropathy with hearing loss, intellectual disability and absent sensory large myelinated fibers"],[8965,"CHARGE syndrome"],[15367,"Charlie M syndrome"],[32600,"CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome","Snijders Blok-Campeau syndrome"],[14946,"CHD4-related neurodevelopmental disorder","CHD4-related neurodevelopmental syndrome","Sifrim-Hitz-Weiss syndrome"],[14017,"CHD8 overgrowth syndrome","CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome","Chromodomain helicase DNA binding protein 8 overgrowth syndrome","intellectual developmental disorder with autism and macrocephaly"],[7313,"Cheilitis glandularis"],[100641,"chemotherapy-induced neuropathy"],[7315,"Cherubism","CRBM"],[5700,"chickenpox"],[17941,"Chikungunya"],[19557,"Chilblain lupus"],[10621,"CHILD syndrome","CHILD nevus","Congenital hemidysplasia with ichthyosiform erythroderma and limb defects"],[10826,"Childhood absence epilepsy","Pyknolepsy"],[15681,"Childhood disintegrative disorder","Dementia infantilis","Heller syndrome"],[13761,"Childhood encephalopathy due to thiamine pyrophosphokinase deficiency"],[20308,"Childhood occipital visual epilepsy","COVE","Idiopathic chilldhood occipital epilepsy-Gastaut type","Late-onset benign childhood occipital epilepsy"],[18206,"Childhood-onset autosomal recessive myopathy with external ophthalmoplegia"],[12235,"Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 7","SCAR7","autosomal recessive spinocerebellar ataxia 7"],[14889,"Childhood-onset basal ganglia degeneration syndrome","Lenk-Ploski syndrome","striatonigral degeneration, childhood-onset"],[44332,"Childhood-onset benign chorea with striatal involvement"],[1010168,"Childhood-onset hypophosphatasia","Childhood-onset Rathbun disease","Childhood-onset phosphoethanolaminuria","childhood hypophosphatasia"],[44701,"Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder","CONDBA"],[15738,"Childhood-onset nemaline myopathy","Mild nemaline myopathy"],[18759,"Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome"],[957430,"Childhood-onset schizophrenia","COS","VEOS","Very early-onset schizophrenia"],[14803,"Childhood-onset spasticity with hyperglycinemia","Childhood-onset spasticity with variant non-ketotic hyperglycinemia","Spasticity-ataxia-gait anomalies syndrome"],[35647,"Childhood-onset Steinert myotonic dystrophy","Childhood-onset Steinert disease","Childhood-onset myotonic dystrophy type 1"],[10221,"CHIME syndrome","Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome","Congenital disorder of glycosylation due to PIGL deficiency","Neuroectodermal dysplasia, CHIME type","Neuroectodermal syndrome, Zunich type","PIGL-CDG","Zunich-Kaye syndrome"],[21697,"chlamydia infectious disease"],[12155,"Choanal atresia"],[15313,"Choanal atresia, bilateral"],[15312,"Choanal atresia, unilateral"],[35651,"Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome","KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome"],[19087,"Cholangiocarcinoma","Bile duct cancer","CCA"],[4789,"cholangitis"],[2155,"cholecystitis"],[18805,"Choledochal cyst","Congenital cystic dilatation of the biliary tract","bile duct cyst"],[12672,"cholelithiasis"],[15766,"Cholera"],[8966,"Cholestasis-lymphedema syndrome","Aagenaes syndrome"],[6531,"cholesteatoma of attic"],[6532,"cholesteatoma of external ear"],[6533,"cholesteatoma of middle ear"],[5568,"cholesterol embolism"],[987,"cholesterolosis of gallbladder"],[19149,"Cholesteryl ester storage disease","Cholesterol ester storage disease"],[6534,"cholinergic urticaria"],[19701,"chondrodysplasia punctata"],[7322,"Chondrodysplasia punctata, tibial-metacarpal type"],[8973,"Chondrodysplasia punctata, Toriello type","Toriello-Higgins-Miller syndrome"],[13561,"Chondrodysplasia with joint dislocations, gPAPP type","gPAPP deficiency"],[10814,"Chondrodysplasia-difference of sex development syndrome","Chondrodysplasia-disorder of sex development syndrome","Chondrodysplasia-pseudohermaphroditism syndrome","Nivelon-Nivelon-Mabille syndrome"],[17869,"Chondroectodermal dysplasia with night blindness"],[2342,"chondromalacia"],[8207,"chondromalacia patellae"],[18447,"Chondromyxoid fibroma"],[8977,"Chondrosarcoma"],[16706,"Chordoid glioma","chordoid glioma of the third ventricle"],[8978,"Chordoma","Notochordal sarcoma"],[8695,"Choreoacanthocytosis","ChAc","Chorea-acanthocytosis","Levine-Critchley syndrome","VPS13A-related neurodegenerative disease"],[409,"chorioamnionitis"],[16740,"Choriocarcinoma of the central nervous system"],[6700,"choroid cancer"],[16718,"Choroid plexus carcinoma"],[15428,"Choroidal atrophy-alopecia syndrome","Moloney syndrome","Regional choroidal atrophy and alopecia"],[971130,"Choroidal osteoma"],[10557,"Choroideremia","CHM","Tapetochoroidal dystrophy"],[10278,"Christianson syndrome","X-linked Angelman-like syndrome"],[22171,"chromhidrosis"],[15908,"Chromomycosis","Chromoblastomycosis"],[17885,"Chromophobe renal cell carcinoma","Chromophobe renal cell adenocarcinoma"],[19040,"chromosomal disorder"],[22762,"chromosome 4 short arm deletion"],[15607,"Chromosome Y microdeletion syndrome","Male infertility due to chromosome Y microdeletion","Microdeletion of the AZF region on the Y chromosome","partial chromosome Y deletion"],[20061,"Chromosome Y structural anomaly syndrome","obsolete chromosome Y structural anomaly"],[18025,"Chronic actinic dermatitis","Actinic reticuloid","Chronic photosensitivity dermatitis"],[1251,"chronic apical periodontitis"],[14528,"Chronic atrial and intestinal dysrhythmia syndrome","CAID syndrome","Chronic atrial dysrhythmia-intestinal motility disorder","chronic atrial and intestinal dysrhythmia"],[6665,"chronic atrophic gastritis"],[1921,"chronic atticoantral disease"],[15274,"Chronic beryllium disease","Berylliosis","Chronic berylliosis","Chronic beryllium lung disease"],[35345,"Chronic bilirubin encephalopathy","BIND","Bilirubin-induced neurological dysfunction","CBE","KSD","Kernicterus spectrum disorder"],[1966,"chronic closed-angle glaucoma"],[1367,"chronic congestive splenomegaly"],[2314,"chronic conjunctivitis"],[4800,"chronic dacryoadenitis"],[4925,"chronic dacryocystitis"],[15169,"Chronic diarrhea due to glucoamylase deficiency","Maltase-glucoamylase deficiency"],[10786,"Chronic diarrhea with villous atrophy"],[17203,"Chronic endophthalmitis"],[18766,"Chronic enteropathy associated with SLCO2A1 gene","CEAS"],[15687,"Chronic eosinophilic leukemia"],[4806,"chronic eosinophilic pneumonia"],[9194,"Chronic Epstein-Barr virus infection syndrome","CAEBV syndrome","Chronic EBV infection syndrome","immunodeficiency 32B"],[4757,"chronic ethmoidal sinusitis"],[2170,"chronic eustachian salpingitis"],[1685,"chronic follicular conjunctivitis"],[1120,"chronic frontal sinusitis"],[20782,"chronic gingivitis"],[20547,"Chronic graft versus host disease"],[18305,"Chronic granulomatous disease","CGD","Chronic septic granulomatosis"],[18334,"Chronic hiccup"],[13825,"Chronic infantile diarrhea due to guanylate cyclase 2C overactivity","congenital diarrhea 6"],[6702,"Chronic inflammatory demyelinating polyneuropathy","CIDP","Chronic inflammatory demyelinating polyradiculoneuropathy"],[35882,"Chronic intervillositis of unknown etiology","CIUE"],[17418,"Chronic intestinal failure","CIF"],[17574,"Chronic intestinal pseudoobstruction syndrome","CIPO","CIPO syndrome","CIPS","CIP syndrome","chronic intestinal pseudoobstruction"],[5300,"chronic kidney disease"],[1588,"chronic lacrimal gland enlargement"],[1369,"chronic laryngitis"],[100193,"chronic liver failure"],[4234,"Chronic lymphoproliferative disorder of natural killer cells","CLPD-NK","CNKL","Chronic NK lymphocytosis","Chronic NK-cell lymphocytosis","Chronic lymphoproliferative disorder of NK-cells","NK-cell lineage granular lymphocyte proliferative disorder"],[35445,"Chronic mast cell leukemia","Chronic MCL"],[1122,"chronic maxillary sinusitis"],[1007,"chronic meningitis"],[15279,"Chronic mucocutaneous candidiasis","CMC"],[11996,"Chronic myeloid leukemia","CML","Chronic granulocytic leukemia","Chronic myelogenous leukemia"],[20311,"Chronic myelomonocytic leukemia","CMML"],[19452,"Chronic myeloproliferative disease, unclassifiable","CMPD-U","Undifferentiated myeloproliferative disease","myeloproliferative neoplasm, unclassifiable"],[850058,"Chronic neurovisceral acid sphingomyelinase deficiency","Chronic neurovisceral ASMD","NPD-A/B","Niemann-Pick disease type A/B"],[19451,"Chronic neutrophilic leukemia"],[9813,"Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis","chronic recurrent multifocal osteomyelitis"],[24317,"chronic pain syndrome"],[5593,"chronic periodontitis"],[19621,"Chronic pneumonitis of infancy","CPI"],[22103,"chronic prostatitis"],[44687,"Chronic relapsing inflammatory optic neuritis","CRION","chronic relapsing inflammatory optic neuropathy"],[16323,"Chronic respiratory distress with surfactant metabolism deficiency"],[2133,"chronic rheumatic pericarditis"],[4514,"chronic rhinitis"],[3617,"chronic salpingitis"],[1123,"chronic sphenoidal sinusitis"],[13024,"Chronic thromboembolic pulmonary hypertension","CTEPH"],[1074,"chronic tic disorder"],[1964,"chronic tubotympanic suppurative otitis media"],[1227,"chronic tympanitis"],[11871,"Chronic visceral acid sphingomyelinase deficiency","Niemann-Pick disease type B"],[7738,"CHST3-related skeletal dysplasia","spondyloepiphyseal dysplasia with congenital joint dislocations"],[11411,"Chudley-McCullough syndrome"],[9892,"Chuvash erythrocytosis","VHL-related polycythemia","Von Hippel-Lindau-related erythrocytosis","VHL-related erythrocytosis","Chuvash polycythemia","Von Hippel-Lindau-related polycythemia"],[9528,"Chylomicron retention disease","Anderson disease","CMRD","CRD"],[8829,"Chylous ascites"],[8963,"Chédiak-Higashi syndrome","Chédiak-Higashi disease","Chédiak-Higashi-Steinbrink syndrome","Chediak-Higashi syndrome"],[1623,"cicatricial lagophthalmos"],[14098,"CIDEC-related familial partial lipodystrophy","CIDEC-related FPLD","FPLD5"],[43230,"ciguatera fish poisoning"],[2969,"ciliary body cancer"],[11776,"CINCA syndrome"],[24361,"circadian rhythm sleep disorder"],[24378,"circadian rhythm sleep disorder, advanced sleep phase type"],[24377,"circadian rhythm sleep disorder, delayed sleep phase type"],[24379,"circadian rhythm sleep disorder, irregular sleep wake type"],[24381,"circadian rhythm sleep disorder, jet lag type"],[24382,"circadian rhythm sleep disorder, shift work type"],[19076,"Circumscribed palmoplantar hypokeratosis","Circumscribed acral hypokeratosis"],[13208,"Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome","cirrhosis - dystonia - polycythemia - hypermanganesemia syndrome"],[15991,"citrullinemia"],[8988,"Citrullinemia type I","ASS deficiency","Argininosuccinate synthase deficiency","Argininosuccinate synthetase deficiency","Argininosuccinic acid synthase deficiency","Argininosuccinic acid synthetase deficiency","CTLN1","Citrullinemia type 1","Classic citrullinemia"],[16603,"Citrullinemia type II","Adult-onset citrin deficiency","Adult-onset citrullinemia type 2","Adult-onset citrullinemia type II","CTLN2","Citrullinemia type 2"],[10441,"CK syndrome","X-linked intellectual disability-microcephaly-cortical malformation-thin habitus syndrome"],[13125,"CLAPO syndrome"],[30914,"Clark-Baraitser syndrome"],[10480,"Class I glucose-6-phosphate dehydrogenase deficiency","Class I G6PD deficiency","Severe hemolytic anemia due to G6PD deficiency","anemia, nonspherocytic hemolytic, due to G6PD deficiency"],[10805,"Classic bladder exstrophy","Classic exstrophy of the bladder","bladder exstrophy"],[8728,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency","Classic 21-OHD CAH"],[17839,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form","Classic 21-OHD CAH, salt wasting form"],[17840,"Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form","Classic 21-OHD CAH, simple virilizing form"],[17972,"Classic congenital lipoid adrenal hyperplasia due to STAR deficency","Classic CLAH"],[850048,"Classic eosinophilic pustular folliculitis","Classic EPF","Ofuji disease"],[9258,"Classic galactosemia"],[11724,"Classic glucose transporter type 1 deficiency syndrome","Classic GLUT1 deficiency syndrome","Classic GLUT1-DS","De Vivo disease","Encephalopathy due to GLUT1 deficiency"],[18935,"Classic hairy cell leukemia","HCL-C","Leukemic reticuloendotheliosis","hairy cell leukemia"],[18048,"Classic heparin-induced thrombocytopenia","Classic HAT","Classic HIT","Classic heparin-associated thrombocytopenia","HITT","Heparin-induced-immune thrombocytopenia","heparin-induced thrombocytopenia"],[9348,"Classic Hodgkin lymphoma","Classic Hodgkin disease"],[4620,"Classic Hodgkin lymphoma, lymphocyte-depleted type","Hodgkin's lymphoma, lymphocytic depletion"],[4604,"Classic Hodgkin lymphoma, lymphocyte-rich type","Hodgkin's lymphoma, lymphocytic-histiocytic predominance"],[4633,"Classic Hodgkin lymphoma, mixed cellularity type","Hodgkin's lymphoma, mixed cellularity"],[4665,"Classic Hodgkin lymphoma, nodular sclerosis type","nodular sclerosis classical Hodgkin lymphoma"],[17051,"Classic maple syrup urine disease","Classic BCKD deficiency","Classic MSUD","Classic branched-chain alpha-ketoacid dehydrogenase deficiency","Classic branched-chain ketoaciduria"],[16712,"Classic medulloblastoma"],[17939,"Classic multiminicore myopathy","Classic MmD","Classic multiminicore disease"],[9691,"Classic mycosis fungoides","Mycosis fungoides, Alibert-Bazin type","mycosis fungoides"],[18016,"Classic neuroendocrine tumor of appendix","Classic appendiceal neuroendocrine tumor","Classic appendix neuroendocrine tumor"],[16304,"Classic pantothenate kinase-associated neurodegeneration","NBIA1, classic form","Neurodegeneration with brain iron accumulation type 1, classic form","PKAN, classic form"],[10997,"Classic progressive supranuclear palsy syndrome","Classic PSP syndrome","Richardson syndrome","Steele-Richardson-Olszewski disease","supranuclear palsy, progressive, 1"],[35235,"Classic pyoderma gangrenosum","Ulcerative pyoderma gangrenosum"],[18625,"Classic stiff person syndrome","Classic SPS","Classic stiff man syndrome","Classic SMS"],[957456,"Classical dermatomyositis"],[7522,"Classical Ehlers-Danlos syndrome","Ehlers-Danlos syndrome, classic type"],[11670,"Classical-like Ehlers-Danlos syndrome type 1","Classical-like EDS type 1","Ehlers-Danlos syndrome due to tenascin-X deficiency","clEDS type 1"],[54813,"Classical-like Ehlers-Danlos syndrome type 2","AEBP1-related EDS","AEBP1-related Ehlers-Danlos syndrome","Classical-like EDS type 2","clEDS type 2","Ehlers-Danlos syndrome, classic-like, 2"],[10250,"CLCN4-related X-linked intellectual disability syndrome","Raynaud-Claes syndrome","intellectual disability, X-linked 49"],[30947,"CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome","neuronal ceroid lipofuscinosis 15"],[6045,"Clear cell adenocarcinoma of the ovary","Ovarian clear cell adenocarcinoma"],[18448,"Clear cell papillary renal cell carcinoma"],[5005,"Clear cell renal carcinoma","CCRCC","Clear cell renal cell adenocarcinoma","Clear cell renal cell carcinoma"],[5006,"Clear cell sarcoma of kidney","CCSK"],[15092,"Cleft hard palate"],[4747,"cleft lip"],[15420,"Cleft lip and alveolus"],[976127,"Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome","Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-deafness syndrome","Hyaluronidase 2 deficiency","Muggenthaler-Chowdhury-Chioza syndrome"],[16044,"Cleft lip/palate","Alveolar cleft lip and palate","Cleft lip and palate","Cleft lip-alveolus-palate syndrome","FLP"],[16059,"Cleft lip/palate-deafness-sacral lipoma syndrome","Cleft lip/palate-hearing loss-sacral lipoma syndrome","Lowry-Yong syndrome"],[9151,"Cleft lip/palate-ectodermal dysplasia syndrome"],[11008,"Cleft lip/palate-intestinal malrotation-cardiopathy syndrome","McPherson-Clemens syndrome"],[19818,"Cleft mitral valve"],[16064,"Cleft palate"],[958091,"Cleft palate-congenital heart defect-intellectual disability syndrome"],[14822,"Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion","15q14 microdeletion syndrome","Del(15)(q14)","Monosomy 15q14"],[8402,"Cleft palate-large ears-small head syndrome","Say-Barber-Hobbs syndrome"],[7337,"Cleft palate-lateral synechia syndrome","CPLS syndrome"],[16065,"Cleft palate-short stature-vertebral anomalies syndrome","Mathieu-De Broca-Bony syndrome"],[8993,"Cleft palate-stapes fixation-oligodontia syndrome"],[7338,"Cleft velum","Cleft soft palate","Cleft velum palatinum"],[7340,"Cleidocranial dysplasia","Cleidocranial dysostosis","cleidocranial dysplasia 1"],[7341,"Cleidorhizomelic syndrome","Rhizomelic shortness with clavicular defect","Wallis-Zieff-Goldblatt syndrome"],[20363,"Climatic droplet keratopathy","Honey-droplet corneal dystrophy"],[17297,"CLIPPERS","Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids"],[2290,"clitoris cancer"],[9744,"CLN1 disease","Neuronal ceroid lipofuscinosis type 1","NCL1","neuronal ceroid lipofuscinosis 1"],[12414,"CLN10 disease","NCL10","Neuronal ceroid lipofuscinosis type 10","neuronal ceroid lipofuscinosis 10"],[13866,"CLN11 disease","NCL11","Neuronal ceroid lipofuscinosis type 11","neuronal ceroid lipofuscinosis 11"],[17809,"CLN12 disease","ATP13A2-related juvenile neuronal ceroid lipofuscinosis","Juvenile parkinsonism-neuronal ceroid lipofuscinosis","NCL12","Neuronal ceroid lipofuscinosis type 12","parkinsonism due to ATP13A2 deficiency"],[14147,"CLN13 disease","Kufs disease type B","NCL13","Neuronal ceroid lipofuscinosis type 13","neuronal ceroid lipofuscinosis 13"],[8769,"CLN2 disease","NCL2","Neuronal ceroid lipofuscinosis type 2","neuronal ceroid lipofuscinosis 2"],[8767,"CLN3 disease","Neuronal ceroid lipofuscinosis type 3","neuronal ceroid lipofuscinosis 3"],[8083,"CLN4 disease","NCL4","Neuronal ceroid lipofuscinosis type 4","ceroid lipofuscinosis, neuronal, 4 (Kufs type)"],[9745,"CLN5 disease","NCL5","Neuronal ceroid lipofuscinosis type 5","neuronal ceroid lipofuscinosis 5"],[11144,"CLN6 disease","ceroid lipofuscinosis, neuronal, 6A"],[12588,"CLN7 disease","NCL7","Neuronal ceroid lipofuscinosis type 7","neuronal ceroid lipofuscinosis 7"],[10830,"CLN8 disease","NCL8","Neuronal ceroid lipofuscinosis type 8","neuronal ceroid lipofuscinosis 8"],[9774,"Cloacal exstrophy","OEIS complex","Omphalocele-cloacal exstrophy-imperforate anus-spinal defect syndrome"],[5705,"Clonorchiasis"],[17061,"Closed iniencephaly"],[859,"Closed spinal dysraphism","Closed spina bifida","Occult spina bifida","Spina bifida occulta"],[15086,"Cloverleaf skull-asphyxiating thoracic dysplasia syndrome","Benallegue-Lacete syndrome"],[11788,"Cloverleaf skull-multiple congenital anomalies syndrome"],[13038,"CLOVES syndrome","Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome","Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome"],[7342,"clubfoot"],[12400,"CNTNAP2-related developmental and epileptic encephalopathy","cortical dysplasia-focal epilepsy syndrome"],[7345,"Coarctation of aorta","Aorta coarctation"],[14290,"COASY protein-associated neurodegeneration","CoPAN","NBIA6","Neurodegeneration with brain iron accumulation due to COASY mutation","neurodegeneration with brain iron accumulation 6"],[10269,"Coats disease","Congenital retinal telangiectasia","Leber miliary aneurysm"],[12815,"Coats plus syndrome","CRMCC","Cerebroretinal microangiopathy with calcifications and cysts"],[14077,"Cobblestone lissencephaly without muscular or ocular involvement","Cobblestone lissencephaly without muscular or eye involvement","Lissencephaly type 2 without muscular or eye involvement","Lissencephaly type 2 without muscular or ocular involvement"],[1456,"cobblestone retinal degeneration"],[4456,"cocaine abuse"],[5186,"cocaine dependence"],[16007,"Cocaine embryofetopathy","Fetal cocaine syndrome"],[19544,"Cocaine intoxication"],[5706,"Coccidioidomycosis","Desert rheumatism","San Joaquin valley fever","Valley fever","California disease","Coccidioides infection","Desert fever"],[34733,"Cochlear nerve deficiency","obsolete cochlear nerve deficiency"],[7346,"Cochleosaccular degeneration-cataract syndrome"],[44709,"Cochleovestibular malformation","cochleovestibular dysplasia"],[16006,"Cockayne syndrome"],[19569,"Cockayne syndrome type 1","Cockayne syndrome type I"],[19570,"Cockayne syndrome type 2","Cockayne syndrome type II"],[8998,"Cockayne syndrome type 3","Cockayne syndrome type III"],[10879,"CODAS syndrome","Cerebrooculodentoauriculoskeletal syndrome"],[10561,"Coffin-Lowry syndrome","CLS"],[15452,"Coffin-Siris syndrome","CSS"],[8926,"COFS syndrome"],[12637,"COG1-CDG","CDG syndrome type IIg","CDG-IIg","CDG2G","Carbohydrate deficient glycoprotein syndrome type IIg","Congenital disorder of glycosylation type 2g","Congenital disorder of glycosylation type IIg","COG1-congenital disorder of glycosylation"],[54559,"COG2-CDG","COG2-related congenital disorder of glycosylation","congenital disorder of glycosylation, type IIq"],[13281,"COG4-CDG","CDG syndrome type IIj","CDG-IIj","CDG2J","Carbohydrate deficient glycoprotein syndrome type IIj","Congenital disorder of glycosylation type 2j","Congenital disorder of glycosylation type IIj","COG4-congenital disorder of glycosylation"],[13325,"COG5-CDG","CDG syndrome type IIi","CDG-IIi","CDG2I","Carbohydrate deficient glycoprotein syndrome type IIi","Congenital disorder of glycosylation type 2i","Congenital disorder of glycosylation type IIi","COG5-congenital disorder of glycosylation"],[13810,"COG6-CGD","CDG2L","Congenital disorder of glycosylation type 2l","Congenital disorder of glycosylation type IIL","CDG syndrome type IIL","CDG-IIL","COG6-congenital disorder of glycosylation"],[12118,"COG7-CDG","CDG syndrome type IIe","CDG-IIe","CDG2E","Carbohydrate deficient glycoprotein syndrome type IIe","Congenital disorder of glycosylation type 2e","Congenital disorder of glycosylation type IIe","COG7-congenital disorder of glycosylation"],[12635,"COG8-CDG","CDG syndrome type IIh","CDG-IIh","CDG2H","Carbohydrate deficient glycoprotein syndrome type IIh","Congenital disorder of glycosylation type 2h","Congenital disorder of glycosylation type IIh","COG8-congenital disorder of glycosylation"],[15453,"Cogan syndrome"],[20370,"Cogan-Reese syndrome"],[14609,"Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome","CHOPS syndrome","cognitive impairment - coarse facies - heart defects - obesity - pulmonary involvement - short stature - skeletal dysplasia syndrome"],[8999,"Cohen syndrome"],[60510,"Cohen-Gibson syndrome","EED-related overgrowth syndrome"],[8289,"COL4A1/2-related familial vascular leukoencephalopathy","COL4A-related brain small vessel disease with hemorrhage","COL4A-related retinal arteriolar tortuosity-infantile hemiparesis-autosomal dominant leukoencephalopathy syndrome","COL4A1/COL4A2-related familial vascular leukoencephalopathy","brain small vessel disease 1 with or without ocular anomalies"],[17859,"Colchicine poisoning"],[18922,"Cold agglutinin disease","CAD","CAS","Chronic cold agglutinin disease","Cold agglutinin syndrome"],[15526,"Cold-induced sweating syndrome","CISS"],[16085,"Cole-Carpenter syndrome","Bone fragility-craniosynostosis-proptosis-hydrocephalus syndrome"],[19396,"Collagen type III glomerulopathy","Collagenofibrotic glomerulopathy"],[703,"collagenous colitis"],[5220,"Collecting duct carcinoma","BDC","Bellini carcinoma","Bellini duct carcinoma","CDC"],[20354,"Coloboma of choroid and retina"],[20355,"Coloboma of eye lens"],[20357,"Coloboma of eyelid"],[15481,"Coloboma of inferior eyelid","Inferior palpebral coloboma"],[20356,"Coloboma of iris"],[7351,"Coloboma of macula"],[7354,"Coloboma of optic disc","Coloboma of optic papilla","coloboma of optic nerve"],[15480,"Coloboma of superior eyelid","Superior palpebral coloboma"],[15014,"Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome","COMMAD syndrome","coloboma, osteopetrosis, microphthalmia, macrocephaly, albinism, and deafness"],[11239,"Colobomatous macrophthalmia-microcornea syndrome","MACOM syndrome"],[11145,"Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome","colobomatous microphthalmia - obesity - hypogenitalism - intellectual disability syndrome"],[14380,"Colobomatous microphthalmia-rhizomelic dysplasia syndrome","Microphthalmia-coloboma-rhizomelic skeletal dysplasia"],[8927,"Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome"],[4663,"colon carcinoma in situ"],[10562,"Colonic atresia"],[1703,"Color-vision disease","color vision disorder"],[5708,"Colorado tick fever","American mountain fever","Colorado tick encephalitis","Colorado tick-borne disease","Mountain fever","Mountain tick fever"],[18175,"Combined deficiency of factor V and factor VIII","F5F8D","FV and FVIII combined deficiency"],[35776,"Combined deficiency of factor VII and factor X"],[18607,"Combined hamartoma of the retina and retinal pigment epithelium","CHR-RPE","Combined hamartoma of the retina and RPE"],[44791,"Combined hepatocellular carcinoma and cholangiocarcinoma","Combined HCC-CC","Combined hepatocellular-cholangiocarcinoma","Hepatocholangiocarcinoma","cHCC-CC"],[16371,"Combined hyperactive dysfunction syndrome of the cranial nerves"],[30498,"Combined immunodeficiency due to c-REL deficiency","CID due to c-REL deficiency","Combined immunodeficiency due to cellular homolog of v-Rel deficiency","immunodeficiency 92"],[14081,"Combined immunodeficiency due to CARD11 deficiency","CID due to CARD11 deficiency","Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency","severe combined immunodeficiency due to CARD11 deficiency"],[14054,"Combined immunodeficiency due to CD27 deficiency","Autosomal recessive lymphoproliferative disease due to CD27 deficiency","CD27 deficiency","lymphoproliferative syndrome 2"],[14276,"Combined immunodeficiency due to CD3gamma deficiency"],[15695,"Combined immunodeficiency due to CRAC channel dysfunction","Immune dysfunction due to T-cell inactivation due to calcium entry defect"],[979288,"Combined immunodeficiency due to dimerization defective IKAROS mutation","CID due to IKAROS dimerization defective mutation","Combined immunodeficiency due to dimerization defective IKZF1 mutation"],[14637,"Combined immunodeficiency due to DOCK2 deficiency","CID due to DOCK2 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency","DOCK2 deficiency"],[9478,"Combined immunodeficiency due to DOCK8 deficiency","CID due to DOCK8 deficiency","Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency","DOCK8 immunodeficiency syndrome"],[30898,"Combined immunodeficiency due to FCHO1 deficiency","immunodeficiency 76"],[32928,"Combined immunodeficiency due to FOXN1 haploinsufficiency","T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant"],[44725,"Combined immunodeficiency due to GINS1 deficiency","CID due to GINS1 deficiency","Combined immunodeficiency with intrauterine growth retardation-NK cell deficiency-neutropenia","Combined immunodeficiency with intrauterine growth retardation-natural killer cell deficiency-neutropenia"],[800139,"Combined immunodeficiency due to HELIOS deficiency","CID due to HELIOS deficiency","Combined immunodeficiency due to IKAROS family zinc finger 2 deficiency","Combined immunodeficiency due to IKZF2 deficiency","HELIOS deficiency"],[14267,"Combined immunodeficiency due to IKBKB deficiency","CID due to IKBKB deficiency","Combined immunodeficiency due to inhibitor of nuclear factor kappa B subunit beta deficiency","severe combined immunodeficiency due to IKK2 deficiency"],[32599,"Combined immunodeficiency due to IKBKB gain-of-function mutation","CID due to IKBKB GOF mutation","Combined immunodeficiency due to inhibitor of nuclear factor kappa B kinase subunit beta gain-of-function mutation","immunodeficiency 15a"],[14082,"Combined immunodeficiency due to IL21R deficiency","CID due to IL21R deficiency","Combined immunodeficiency due to interleukin 21 receptor deficiency","cryptosporidiosis-chronic cholangitis-liver disease syndrome"],[13081,"Combined immunodeficiency due to ITK deficiency","Autosomal recessive lymphoproliferative disease due to ITK deficiency","ITK deficiency","lymphoproliferative syndrome 1"],[14334,"Combined immunodeficiency due to LCK deficiency","CID due to LCK deficiency","CID due to lymphocyte-specific protein tyrosine kinase deficiency","Combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency","severe combined immunodeficiency due to LCK deficiency"],[14197,"Combined immunodeficiency due to MALT1 deficiency"],[10514,"Combined immunodeficiency due to Moesin deficiency","CID due to Moesin deficiency","MSN-related combined immunodeficiency","X-linked Moesin-associated immunodeficiency"],[13007,"Combined immunodeficiency due to ORAI1 deficiency","CID due to ORAI1 deficiency"],[14268,"Combined immunodeficiency due to OX40 deficiency","Combined immunodeficiency with childhood-onset Kaposi sarcoma","Combined immunodeficiency with impaired immunity to HHV-8","Combined immunodeficiency with impaired immunity to human herpes virus 8"],[54696,"Combined immunodeficiency due to RELB deficiency","CID due to RELB deficiency","Combined immunodeficiency due to RELB proto-oncogene NF-kB subunit deficiency","immunodeficiency 53"],[13008,"Combined immunodeficiency due to STIM1 deficiency","CID due to STIM1 deficiency"],[13934,"Combined immunodeficiency due to STK4 deficiency","CID due to STK4 deficiency"],[975891,"Combined immunodeficiency due to TBX1 mutation","combined immunodeficiency due to TBX1 deficiency"],[14760,"Combined immunodeficiency due to TFRC deficiency","CID due to TFRC deficiency","TFRC-related combined immunodeficiency"],[10023,"Combined immunodeficiency due to ZAP70 deficiency","Zeta-associated-protein 70 deficiency"],[13226,"Combined immunodeficiency with facio-oculo-skeletal anomalies","Roifman-Chitayat syndrome","combined immunodeficiency with faciooculoskeletal anomalies"],[9306,"Combined immunodeficiency with granulomas and/or autoimmunity due to RAG defect","CID with granulomas and/or autoimmunity due to RAG defect","Combined immunodeficiency with granulomas and/or autoimmunity due to recombination activating gene defect","combined immunodeficiency with skin granulomas"],[979327,"Combined immunodeficiency with low Ig due to BCL10 deficiency","CID with low Ig due to BCL10 deficiency","Combined immunodeficiency with low Ig due to B-cell lymphoma 10 immune signaling adaptor deficiency"],[30333,"Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency","CID-cancer predisposing syndrome due to AIOLOS deficiency","CID-cancer predisposing syndrome due to IKZF3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKAROS family zinc finger 3 deficiency","Combined immunodeficiency-cancer predisposing syndrome due to IKZF3 deficiency","immunodeficiency 84"],[979315,"Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","CID-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency","Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IkappaB kinase alpha deficiency"],[60611,"Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency","CIMAH","Combined immunodeficiency-megaloblastic anemia with or without hyperhomocysteinemia","Methylenetetrahydrofolate dehydrogenase 1 deficiency","combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia"],[30831,"Combined immunodeficiency-multiple intestinal atresia","CID-MIA/early-onset IBD","gastrointestinal defect and immunodeficiency syndrome"],[13661,"Combined malonic and methylmalonic acidemia","CMAMMA","Combined malonic and methylmalonic aciduria"],[13969,"Combined oxidative phosphorylation defect type 11","COXPD11"],[13977,"Combined oxidative phosphorylation defect type 13","COXPD13"],[13986,"Combined oxidative phosphorylation defect type 14","COXPD14"],[13987,"Combined oxidative phosphorylation defect type 15","COXPD15"],[14190,"Combined oxidative phosphorylation defect type 17","COXPD17"],[12510,"Combined oxidative phosphorylation defect type 2","COXPD2"],[14397,"Combined oxidative phosphorylation defect type 20","COXPD20"],[14398,"Combined oxidative phosphorylation defect type 21","COXPD21"],[14525,"Combined oxidative phosphorylation defect type 23","COXPD23"],[14547,"Combined oxidative phosphorylation defect type 24","COXPD24"],[14636,"Combined oxidative phosphorylation defect type 25","COXPD25"],[14684,"Combined oxidative phosphorylation defect type 26","COXPD26"],[14728,"Combined oxidative phosphorylation defect type 27","COXPD27"],[14781,"Combined oxidative phosphorylation defect type 29","COXPD29","combined oxidative phosphorylation deficiency 29"],[14856,"Combined oxidative phosphorylation defect type 30","COXPD30"],[32726,"Combined oxidative phosphorylation defect type 39","COXPD39","GFM2-related combined oxidative phosphorylation defect","combined oxidative phosphorylation deficiency 39"],[12534,"Combined oxidative phosphorylation defect type 4","COXPD4"],[13306,"Combined oxidative phosphorylation defect type 7","Severe C12ORF65-related combined oxidative phosphorylation defect","COXPD7","Severe C12ORF65-related COXPD"],[13570,"Combined oxidative phosphorylation defect type 8","COXPD8"],[13811,"Combined oxidative phosphorylation defect type 9","COXPD9"],[17712,"Combined pancreatic lipase-colipase deficiency"],[13099,"Combined pituitary hormone deficiencies, genetic forms","Familial congenital hypopituitarism","Multiple pituitary hormone deficiencies, genetic forms","combined pituitary hormone deficiencies, genetic form"],[17591,"Combined pulmonary fibrosis-emphysema syndrome","CPFE"],[15131,"Combined T and B cell immunodeficiency","combined immunodeficiency"],[15381,"Commissural lip fistula"],[18072,"Common arterial trunk","CAT","Common aorticopulmonary trunk","Common truncus arteriosus","Persistent truncus arteriosus","Truncus arteriosus","Truncus arteriosus communis"],[5709,"common cold"],[15517,"common variable immunodeficiency"],[14810,"Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency","CVID phenotype due to IKAROS functional haploinsufficiency","Common variable immunodeficiency phenotype due to IKZF1 functional haploinsufficiency","pancytopenia due to IKZF1 mutations"],[958013,"Common variable immunodeficiency phenotype due to SEC61A1 deficiency","CVID due to SEC61A1 deficiency","Common variable immunodeficiency phenotype due to SEC61 complex, alpha-1 subuntit deficiency","immunodeficiency, common variable, 15"],[1209,"common wart"],[17247,"Communicating congenital bronchopulmonary-foregut malformation"],[2045,"communicating hydrocephalus"],[924,"compensatory emphysema"],[13417,"Complement component 3 deficiency","C3 deficiency"],[9174,"Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome","CD55 deficiency","CHAPLE syndrome","protein-losing enteropathy"],[21023,"Complete androgen insensitivity syndrome","CAIS","Complete androgen resistance syndrome"],[15273,"Complete atrioventricular septal defect","complete atrioventricular canal"],[20407,"Complete atrioventricular septal defect with ventricular hypoplasia","CAVC with ventricular hypoplasia","Complete AVSD with ventricular hypoplasia","Complete atrioventricular canal defect with ventricular hypoplasia","Complete atrioventricular septal defect with ventricular imbalance","Unbalanced complete atrioventricular canal","complete atrioventricular canal-ventricle hypoplasia syndrome"],[35554,"Complete atrioventricular septal defect without ventricular hypoplasia","Balanced complete atrioventricular canal","CAVC without ventricular hypoplasia","Complete AVSD without ventricular hypoplasia","Complete atrioventricular canal defect without ventricular hypoplasia","Complete atrioventricular septal defect with balanced ventricles","obsolete complete atrioventricular septal defect without ventricular hypoplasia"],[20408,"Complete atrioventricular septal defect-tetralogy of Fallot","CAVC-tetralogy of Fallot","Complete AVSD-tetralogy of Fallot","Complete atrioventricular canal defect-tetralogy of Fallot","complete atrioventricular canal-tetralogy of fallot syndrome"],[20360,"Complete cryptophthalmia"],[16785,"Complete hydatidiform mole","Complete molar pregnancy"],[15840,"Complete septate uterus","Total septate uterus"],[14821,"Complex lethal osteochondrodysplasia","Complex lethal osteochondrodysplasia, Symoens-Barnes-Gistelinck type"],[19369,"Complex regional pain syndrome"],[11441,"complex regional pain syndrome type 1"],[700220,"Complication after organ transplantation","disease related to transplantation"],[18712,"Composite hemangioendothelioma","Polymorphous hemangioendothelioma"],[5710,"Composite lymphoma","Composite Hodgkin and non-Hodgkin lymphoma"],[9083,"Conductive deafness-malformed external ear syndrome","Conductive hearing loss-malformed external ear syndrome","Mengel-Konigsmark syndrome"],[9084,"Conductive deafness-ptosis-skeletal anomalies syndrome","Conductive hearing loss-ptosis-skeletal anomalies syndrome","Jackson-Barr syndrome"],[12475,"Cone dystrophy with supernormal rod response","Cone dystrophy with supernormal rod ERG","Cone dystrophy with supernormal rod electroretinogram","Cone dystrophy with supernormal scotopic electroretinogram"],[15993,"Cone rod dystrophy","cone-rod dystrophy"],[60507,"Cone rod dystrophy-short stature syndrome","retinal dystrophy with or without macular staphyloma"],[16376,"Confetti-like macular atrophy"],[18600,"Congenital abducens nerve palsy","Benign congenital sixth cranial nerve palsy","Congenital CNVI palsy"],[17499,"congenital absence of both forearm and hand, bilateral"],[17501,"congenital absence of both lower leg and foot, bilateral"],[17497,"congenital absence of thigh and lower leg with foot present, bilateral"],[17929,"Congenital achiasma"],[18479,"Congenital adrenal hyperplasia","CAH"],[8729,"Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency","CAH due to 11-beta-hydroxylase deficiency","CYP11B1 deficiency"],[8730,"Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency","CAH due to 17-alpha-hydroxylase deficiency","Combined 17-hydroxylase/17,20-lyase deficiency"],[8727,"Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency","CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency"],[13310,"Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency","Congenital adrenal hyperplasia due to cytochrome POR deficiency","POR deficiency","PORD"],[44644,"Congenital agenesis of the scrotum","Congenital absence of the scrotum","Congenital scrotal absence","Congenital scrotal agenesis"],[9883,"Congenital alpha2-antiplasmin deficiency","alpha-2-plasmin inhibitor deficiency"],[9934,"Congenital alveolar capillary dysplasia","ACDMPV","Alveolar capillary dysplasia with misalignment of pulmonary veins","Alveolar capillary dysplasia with misalignment of pulmonary vessels"],[800452,"Congenital amegakaryocytic thrombocytopenia","congenital amegakaryocytic thrombocytopenia 1"],[44629,"Congenital amyoplasia","Amyoplasia congenita"],[14449,"Congenital analbuminemia"],[19836,"Congenital anomaly of hepatic vein"],[20396,"Congenital anomaly of the tricuspid valve chordae","Congenital anomaly of tricuspid chordae tendineae","Congenital anomaly of tricuspid tendinous chords","anomaly of the tricuspid valve chordae"],[19808,"Congenital aortic valve atresia","aortic valve atresia"],[15097,"Congenital aortic valve dysplasia","aortic valve dysplasia"],[19809,"congenital aortic valve insufficiency"],[17735,"Congenital aortic valve stenosis"],[16077,"Congenital aortopulmonary window","Congenital aortopulmonary artery fistula","Congenital aortopulmonary septal defect"],[850050,"Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome"],[32838,"Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome","NEDMABA disorder","Neurodevelopmental disorder-microcephaly-arthrogryposis-structural brain anomalies","neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies"],[8846,"Congenital atransferrinemia","Congenital hypotransferrinemia","atransferrinemia"],[35441,"Congenital autosomal recessive small-platelet thrombocytopenia","CARST"],[34041,"Congenital axonal neuropathy with encephalopathy"],[18801,"Congenital bilateral absence of vas deferens","CBAVD","Congenital bilateral agenesis of vas deferens","Congenital bilateral aplasia of vas deferens"],[19647,"Congenital bilateral megacalycosis"],[11906,"Congenital bile acid synthesis defect type 1","3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency","BASD1","congenital bile acid synthesis defect 1"],[9339,"Congenital bile acid synthesis defect type 2","BASD2","Cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency","congenital bile acid synthesis defect 2"],[13439,"Congenital bile acid synthesis defect type 3","BASD3","Oxysterol 7-alpha-hydroxylase deficiency","congenital bile acid synthesis defect 3"],[8967,"Congenital bile acid synthesis defect type 4","2-methylacyl-CoA racemase deficiency","AMACR deficiency","Alpha-methyl-acyl-CoA racemase deficiency","BASD4","Liver disease-retinitis pigmentosa-polyneuropathy-epilepsy syndrome","congenital bile acid synthesis defect 4"],[34895,"Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome","Serpentine-like syndrome"],[12393,"Congenital brain dysgenesis due to glutamine synthetase deficiency","Inherited GS deficiency","Inherited glutamine synthetase deficiency"],[10015,"Congenital cataract microcornea with corneal opacity","CCMCO","anterior segment dysgenesis 7"],[15567,"Congenital cataract-anterior segment dysgenesis syndrome","Congenital cataract-ASD syndrome","Congenital cataract-ASGD syndrome","Congenital cataract-ASMD syndrome","Congenital cataract-anterior segment mesenchymal dysgenesis syndrome","cataract-glaucoma syndrome"],[13772,"Congenital cataract-hearing loss-severe developmental delay syndrome","Congenital cataract-deafness-severe developmental delay syndrome","Huppke-Brendel syndrome","Lethal neurodegenerative disorder due to copper transport defect"],[8922,"Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome","Sengers syndrome"],[13116,"Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome","Congenital cataract-progressive muscular hypotonia-deafness-developmental delay syndrome"],[33853,"Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome"],[11402,"Congenital cataracts-facial dysmorphism-neuropathy syndrome","CCFDN"],[800026,"Congenital central hypoventilation syndrome","Ondine curse","Ondine syndrome","CCHS","Congenital central alveolar hypoventilation syndrome","central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease"],[33717,"Congenital cerebellar ataxia due to RNU12 mutation"],[19357,"Congenital cervical spinal stenosis","Congenital narrowing of cervical spinal canal","Congenital stenosis of the cervical spine"],[8964,"Congenital chloride diarrhea","congenital secretory chloride diarrhea 1"],[14375,"Congenital chronic diarrhea with protein-losing enteropathy","Congenital chronic diarrhea with exudative enteropathy","congenital diarrhea 7 with exudative enteropathy"],[11331,"Congenital chylothorax"],[17116,"Congenital communicating hydrocephalus","Congenital non-obstructive hydrocephalus"],[20454,"Congenital complete agenesis of pericardium"],[7363,"Congenital contractural arachnodactyly","Beals syndrome","Beals-Hecht syndrome","CCA syndrome","Distal arthrogryposis type 9"],[733,"Congenital cornea plana","cornea plana"],[19825,"Congenital coronary artery aneurysm","Congenital coronary aneurysm"],[22825,"Congenital cystic eye","Congenital anophthalmos with cyst"],[14424,"Congenital deficiency in alpha-fetoprotein","obsolete congenital deficiency in alpha-fetoprotein"],[5711,"Congenital diaphragmatic hernia","CDH"],[15286,"Congenital disorder of glycosylation","CDG","Carbohydrate deficient glycoprotein syndrome"],[19403,"Congenital dyserythropoietic anemia","CDA"],[20337,"Congenital dyserythropoietic anemia type I","CDA I","CDA type 1","CDA type I","Congenital dyserythropoietic anemia type 1"],[9134,"Congenital dyserythropoietic anemia type II","CDA II","CDA type 2","CDA type II","Congenital dyserythropoietic anemia type 2","Hereditary erythroblastic multinuclearity with a positive acidified-serum test (hempas)","SEC23B-CDG"],[7109,"Congenital dyserythropoietic anemia type III","CDA III","CDA type 3","CDA type III","Congenital dyserythropoietic anemia type 3"],[20161,"Congenital ectropion"],[19630,"Congenital ectropion uveae"],[17559,"Congenital elbow dislocation, bilateral"],[17558,"Congenital elbow dislocation, unilateral"],[15171,"Congenital enterocyte heparan sulfate deficiency"],[9173,"Congenital enteropathy due to enteropeptidase deficiency","Congenital enterokinase deficiency"],[17375,"Congenital enterovirus infection","Antenatal enterovirus infection","Mother-to-child transmission of enterovirus infection"],[20159,"congenital entropion"],[19094,"Congenital Epstein-Barr virus infection","Antenatal EBV infection","Antenatal Epstein-Barr virus infection","Congenital EBV infection","Mother-to-child transmission of Epstein-Barr virus infection"],[15528,"Congenital epulis","Congenital gingival cell tumor","Congenital granular cell tumor","Neumann tumor"],[16503,"Congenital erosive and vesicular dermatosis","CEVD","Congenital erosive and vesicular dermatosis with reticulated supple scarring"],[9902,"Congenital erythropoietic porphyria","CEP","Günther disease","cutaneous porphyria"],[19620,"Congenital esophageal diverticulum","Congenital esophageal pouch"],[957459,"Congenital esophageal stenosis","CES","Congenital oesophageal stenosis"],[20465,"Congenital eyelid retraction"],[13361,"Congenital factor II deficiency","Dysprothrombinemia","Hypoprothrombinemia","Prothrombin deficiency","congenital prothrombin deficiency"],[9210,"Congenital factor V deficiency","Owren disease","Parahemophilia","Proaccelerin deficiency"],[9211,"Congenital factor VII deficiency","Congenital proconvertin deficiency","Hypoproconvertinemia"],[9212,"Congenital factor X deficiency","Congenital Stuart factor deficiency","Stuart-Prower factor deficiency"],[12897,"Congenital factor XI deficiency","Hemophilia C","PTA deficiency","Plasma thromboplastin antecedent deficiency","Rosenthal factor deficiency","Rosenthal syndrome"],[9315,"Congenital factor XII deficiency","Congenital Hageman factor deficiency"],[18029,"Congenital factor XIII deficiency","Fibrin-stabilizing factor deficiency"],[9711,"Congenital fiber-type disproportion myopathy","CFTDM"],[18060,"Congenital fibrinogen deficiency"],[7614,"Congenital fibrosis of extraocular muscles","FEOM"],[13225,"Congenital generalized  lipodystrophy type 4","BSCL type 4","Berardinelli-Seip syndrome type 4, BSCL type 4","GCL4","congenital generalized lipodystrophy type 4"],[18780,"Congenital generalized hypercontractile muscle stiffness syndrome"],[7787,"Congenital generalized hypertrichosis, Ambras type","Ambras syndrome","Ambras type hypertrichosis universalis congenita"],[18883,"Congenital generalized lipodystrophy","Berardinelli-Seip congenital lipodystrophy"],[12071,"Congenital generalized lipodystrophy type 1","BSCL type 1","Berardinelli-Seip syndrome type 1","CGL1"],[10020,"Congenital generalized lipodystrophy type 2","BSCL type 2","Berardinelli-Seip syndrome type 2","CGL2"],[12923,"Congenital generalized lipodystrophy type 3","BSCL type 3","Berardinelli-Seip syndrome type 3","CGL3"],[17561,"Congenital genu flexum"],[17560,"Congenital genu recurvatum"],[20428,"Congenital Gerbode defect","Left ventricular-to-right atrial communication"],[9277,"Congenital glaucoma","Buphthalmia","Buphthalmos","Buphthalmus","Primary congenital glaucoma","glaucoma 3A"],[11236,"Congenital glucokinase-related hyperinsulinism","Glucokinase-related hyperinsulinemic hypoglycemia","hyperinsulinemic hypoglycemia, familial, 3"],[9326,"Congenital heart block","Congenital atrioventricular block"],[10039,"Congenital heart defect-round face-developmental delay syndrome","Sonoda syndrome"],[9019,"Congenital hereditary endothelial dystrophy type II","Autosomal recessive CHED","Autosomal recessive congenital hereditary endothelial dystrophy","CHED2","CHEDII","Congenital hereditary endothelial dystrophy type 2","Infantile hereditary endothelial dystrophy","Maumenee corneal dystrophy","congenital hereditary endothelial dystrophy of cornea"],[17627,"Congenital hereditary facial paralysis-variable hearing loss syndrome","Congenital hereditary facial palsy with variable deafness","Congenital hereditary facial palsy with variable hearing loss","Congenital hereditary facial paralysis with variable deafness","Congenital hereditary facial paralysis-variable deafness syndrome"],[17381,"Congenital herpes simplex virus infection","Antenatal herpes simplex virus infection","Mother-to-child transmission of herpes simplex virus infection"],[1060125,"Congenital high airway obstruction syndrome","CHAOS"],[9234,"Congenital high-molecular-weight kininogen deficiency"],[7735,"Congenital Horner syndrome","Congenital Claude-Bernard-Horner syndrome"],[16349,"Congenital hydrocephalus"],[7741,"congenital hydronephrosis"],[16988,"Congenital hyperinsulinism due to HNF4A deficiency","Hyperinsulinemic hypoglycemia due to HNF4A deficiency","hyperinsulinism due to HNF4A deficiency"],[19853,"Congenital hypothyroidism due to developmental anomaly","Primary congenital hypothyroidism due to developmental anomaly","obsolete congenital hypothyroidism due to developmental anomaly"],[16413,"Congenital hypothyroidism due to maternal intake of antithyroid drugs"],[19857,"Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies","congenital hypothyroidism due to transplacental passage of maternal TSH-binding inhibitory antibodies"],[19306,"Congenital ichthyosiform erythroderma","CIE","Erythrodermic ichthyosis","Non-bullous congenital ichthyosiform erythroderma","congenital non-bullous ichthyosiform erythroderma"],[13760,"Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome","Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome","ELOVL4-related neuro ichthyosis"],[16417,"Congenital ichthyosis-microcephalus-tetraplegia syndrome","Congenital ichthyosis-microcephalus-quadriplegia syndrome"],[35592,"Congenital infiltrating lipomatosis of the face","CIL-F","Facial infused lipomatosis","Fibroadipose infiltrating lipomatosis"],[958106,"Congenital insensitivity to pain syndrome, Marsili type","Marsili syndrome"],[18682,"Congenital insensitivity to pain with severe intellectual disability","Congenital absence of pain with severe intellectual disability","Congenital analgesia with severe intellectual disability","Congenital insensitivity to pain with preserved temperature sensation","Congenital insensitivity to pain with severe non-progressive cognitive delay"],[9459,"Congenital insensitivity to pain-anosmia-neuropathic arthropathy","SCN9A-related congenital insensitivity to pain","channelopathy-associated congenital insensitivity to pain, autosomal recessive"],[16319,"Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation","Congenital absence of pain with hyperhidrosis","Congenital analgesia with hyperhidrosis","Congenital indifference to pain with hyperhidrosis","Congenital insensitivity to pain with hyperhidrosis"],[979271,"Congenital intrahepatic arterioportal fistula","IAPF"],[9852,"Congenital intrinsic factor deficiency","Congenital pernicious anemia","Gastric intrinsic factor deficiency","Hereditary juvenile megaloblastic anemia due to intrinsic factor deficiency","IFD","Intrinsic factor deficiency","hereditary intrinsic factor deficiency"],[8720,"Congenital isolated ACTH deficiency","congenital isolated adrenocorticotropic hormone deficiency"],[17470,"Congenital knee dislocation"],[9115,"Congenital lactase deficiency"],[9069,"Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type","COX deficiency, French-Canadian type","Cytochrome C oxidase deficiency, French-Canadian type","Cytochrome oxidase deficiency, Saguenay-Lac-Saint-Jean type","Leigh syndrome, French-Canadian type","Leigh syndrome, Saguenay-Lac-Saint-Jean type","SLSJ-COX deficiency"],[15396,"Congenital laryngeal cyst"],[15316,"Congenital laryngeal palsy","Congenital vocal cord paralysis"],[7878,"Congenital laryngomalacia"],[21690,"Congenital left ventricular aneurysm","obsolete congenital left ventricular aneurysm"],[9198,"Congenital lethal erythroderma"],[12929,"Congenital lethal myopathy, Compton-North type","Compton-North congenital myopathy"],[14556,"Congenital limbs-face contractures-hypotonia-developmental delay syndrome","CLIFAHDD syndrome","congenital contractures of the limbs and face, hypotonia, and developmental delay"],[8725,"Congenital lipoid adrenal hyperplasia due to STAR deficency","CLAH","LCAH","Lipoid CAH"],[7536,"Congenital lobar emphysema","Congenital lobar hyperinflation","Infantile lobar hyperinflation"],[7927,"Congenital macroglossia"],[19639,"Congenital megacalycosis"],[700340,"Congenital megaprepuce","Isolated congenital buried penis"],[19068,"Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization","congenital membranous nephropathy due to maternal anti-neutral endopeptidase alloimmunization"],[17043,"Congenital mesoblastic nephroma"],[14258,"Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome","Asparagine synthetase deficiency","congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome"],[7989,"Congenital microcoria","Congenital miosis"],[16041,"Congenital microgastria"],[20398,"Congenital mitral stenosis"],[1298,"congenital mitral valve insufficiency"],[19817,"congenital mitral valve insufficiency and/or stenosis"],[9712,"Congenital multicore myopathy with external ophthalmoplegia"],[13178,"Congenital muscular dystrophy due to LMNA mutation","L-CMD","LMNA-related congenital muscular dystrophy"],[11486,"Congenital muscular dystrophy type 1B","CMD1B","MDC1B","congenital muscular dystrophy 1B"],[18277,"Congenital muscular dystrophy with cerebellar involvement","CMD with cerebellar involvement","CMD-CRB","obsolete congenital muscular dystrophy with cerebellar involvement"],[18281,"Congenital muscular dystrophy with hyperlaxity","CMDH"],[13177,"Congenital muscular dystrophy with integrin alpha-7 deficiency","Congenital muscular dystrophy with ITGA7 deficiency","congenital muscular dystrophy due to integrin alpha-7 deficiency"],[18278,"Congenital muscular dystrophy with intellectual disability","CMD with intellectual disability","CMD-MR"],[14023,"Congenital muscular dystrophy with intellectual disability and severe epilepsy","CDG syndrome type Iu","CDG-Iu","CDG1U","CMD with intellectual disability and severe epilepsy","Carbohydrate deficient glycoprotein syndrome type Iu","Congenital disorder of glycosylation type 1u","Congenital disorder of glycosylation type Iu","DPM2-CDG"],[1040033,"Congenital muscular dystrophy without intellectual disability","CMD without intellectual disability","CMD-no MR","Congenital muscular dystrophy-dystroglycanopathy without intellectual disability"],[9678,"Congenital muscular dystrophy, Fukuyama type","FCMD","FKTN-related congenital muscular dystrophy","Fukuyama congenital muscular dystrophy","muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4"],[24607,"Congenital muscular dystrophy-cataract-intellectual disability syndrome","INPP5K-related syndrome","congenital muscular dystrophy with cataracts and intellectual disability"],[9680,"Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome","Bassoe syndrome"],[14896,"Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome","Congenital muscular dystrophy, Davignon-Chauveau type"],[18940,"Congenital myasthenic syndrome"],[18144,"Congenital myasthenic syndrome with glycosylation defect","obsolete congenital myasthenic syndromes with glycosylation defect"],[19952,"Congenital myopathy"],[8070,"Congenital myopathy with excess of thin filaments","Actin myopathy","congenital myopathy 2a, typical, autosomal dominant"],[13890,"Congenital myopathy with internal nuclei and atypical cores","CNM4","Centronuclear myopathy type 4"],[18528,"Congenital myopathy with myasthenic-like onset"],[34109,"Congenital myopathy with reduced type 2 muscle fibers","Congenital myopathy with fast-twitch fiber atrophy","Congenital myopathy with reduced type II muscle fibers","Congenital myopathy with type 2 muscle fiber atrophy","Congenital myopathy with type II fiber atrophy"],[16049,"Congenital myopathy, Paradas type"],[9732,"Congenital nephrotic syndrome, Finnish type","Finnish congenital nephrosis"],[15134,"Congenital neutropenia","Constitutional neutropenia"],[850067,"Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency","Congenital neutropenia-CID due to MKL1 deficiency","Congenital neutropenia-combined immunodeficiency due to Megakaryoblastic leukemia 1 deficiency","MKL1-related neutrophil motility defect","immune deficiency due to impaired neutrophil phagocytosis and migration"],[14118,"Congenital neutropenia-myelofibrosis-nephromegaly syndrome","VPS45 deficiency","Vacuolar sorting protein 45 deficiency","Congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome"],[17117,"Congenital non-communicating hydrocephalus","Congenital obstructive hydrocephalus"],[5712,"congenital nystagmus"],[18599,"Congenital oculomotor nerve palsy","Congenital CNIII lesion","Congenital third cranial nerve palsy"],[15519,"Congenital or early infantile CACH syndrome"],[9803,"Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome"],[17783,"Congenital pancreatic cyst","Neonatal congenital pancreatic cyst","True congenital pancreatic cyst"],[15341,"Congenital panfollicular nevus"],[20455,"Congenital partial agenesis of pericardium"],[20453,"Congenital partial pulmonary venous return anomaly"],[17471,"Congenital patella dislocation"],[20412,"Congenital patent ductus arteriosus aneurysm"],[979319,"Congenital peritoneal encapsulation","CPE","Peritoneal encapsulation syndrome"],[13227,"Congenital plasminogen activator inhibitor type 1 deficiency","Congenital PAI-1 deficiency"],[18811,"Congenital portosystemic shunt","Congenital portosystemic venous fistula"],[12901,"Congenital prekallikrein deficiency","inherited prekallikrein deficiency"],[12456,"Congenital primary aphakia"],[35500,"Congenital primary lymphedema of Gordon","VEGFC-related congenital primary lymphedema"],[18960,"Congenital primary megaureter","Congenital primary megalo-ureter"],[16552,"Congenital primary megaureter, nonrefluxing and unobstructed form"],[16550,"Congenital primary megaureter, obstructed form"],[35295,"Congenital primary megaureter, refluxing and obstructed form"],[16551,"Congenital primary megaureter, refluxing form"],[33683,"Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome","MYSM1 deficiency"],[7330,"Congenital pseudoarthrosis of the clavicle","Congenital pseudarthrosis of the clavicle","congenital pseudoarthrosis of clavicle"],[17463,"Congenital pseudoarthrosis of the femur","Congenital pseudarthrosis of the femur"],[17464,"Congenital pseudoarthrosis of the fibula","Congenital pseudarthrosis of the fibula"],[17465,"Congenital pseudoarthrosis of the radius","Congenital pseudarthrosis of the radius"],[17462,"Congenital pseudoarthrosis of the tibia","Congenital pseudarthrosis of the tibia"],[17466,"Congenital pseudoarthrosis of the ulna","Congenital pseudarthrosis of the ulna"],[8340,"Congenital ptosis"],[16580,"Congenital pulmonary airway malformation","CCAM","CPAM","Congenital cystic adenomatoid malformation of the lung","Congenital cystic adenomatous malformation of the lung","Congenital cystic disease of the lung"],[17248,"Congenital pulmonary airway malformation type 0","CPAM type 0","Congenital cystic adenomatoid malformation of the lung type 0","Congenital cystic adenomatous malformation of the lung type 0"],[17249,"Congenital pulmonary airway malformation type 1","CCAM type 1","CPAM type 1","Congenital cystic adenomatoid malformation of the lung type 1","Congenital cystic adenomatous malformation of the lung type 1","Congenital cystic disease of the lung type 1"],[17250,"Congenital pulmonary airway malformation type 2","CCAM type 2","CPAM type 2","Congenital cystic adenomatoid malformation of the lung type 2","Congenital cystic adenomatous malformation of the lung type 2","Congenital cystic disease of the lung type 2"],[17251,"Congenital pulmonary airway malformation type 3","CCAM type 3","CPAM type 3","Congenital cystic adenomatoid malformation of the lung type 3","Congenital cystic adenomatous malformation of the lung type 3","Congenital cystic disease of the lung type 3"],[17252,"Congenital pulmonary airway malformation type 4","CPAM type 4","Congenital cystic adenomatoid malformation of the lung type 4","Congenital cystic adenomatous malformation of the lung type 4"],[9933,"Congenital pulmonary lymphangiectasia","Pulmonary lymphangiomatosis"],[17843,"Congenital pulmonary sequestration","Congenital bronchopulmonary sequestration"],[17865,"Congenital pulmonary valvar stenosis","Congenital stenosis of pulmonary valve","congenital pulmonary valve stenosis"],[957556,"Congenital pulmonary vein atresia","CPVA","Congenital PVA"],[17864,"Congenital pulmonary veins atresia or stenosis"],[19993,"Congenital renal artery stenosis","Congenital renovascular hypoplasia"],[16080,"Congenital respiratory-biliary fistula","congenital bronchobiliary fistula"],[12208,"Congenital reticular ichthyosiform erythroderma","CRIE","IWC","Ichthyosis variegata","Ichthyosis with confetti"],[18145,"Congenital retinal arteriovenous communication","Congenital arteriovenous anastomoses of the retina","Congenital arteriovenous communication of the retina","Congenital retinal arteriovenous anastomoses"],[17361,"Congenital rubella syndrome","CRS","Fetal rubella syndrome","Mother-to-child transmission of rubella syndrome"],[968978,"Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome","FOSL2-related neurodevelopmental disorder","aplasia cutis-enamel dysplasia syndrome"],[14097,"Congenital short bowel syndrome"],[453,"Congenital short QT syndrome","Congenital SQTS","short QT syndrome"],[19682,"Congenital sialidosis type 2"],[14487,"Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome","SIFD syndrome"],[16986,"Congenital smooth muscle hamartoma"],[15170,"Congenital sodium diarrhea","CSD","NHE3 deficiency","Na-H exchanger 3 deficiency","Non-syndromic congenital sodium diarrhea","Sodium/proton exchanger-3 deficiency"],[16293,"Congenital stationary night blindness","Congenital essential nyctalopia"],[20451,"Congenital stenosis of the inferior vena cava","Congenital stenosis of the IVC","Congenital stenosis of the inferior caval vein"],[12401,"Congenital stromal corneal dystrophy","CSCD","Congenital hereditary stromal dystrophy","Witschel dystrophy"],[15395,"Congenital subglottic stenosis"],[9114,"Congenital sucrase-isomaltase deficiency","CSID","Congenital sucrose intolerance","Disaccharide intolerance"],[20400,"Congenital supravalvular mitral ring"],[20359,"Congenital symblepharon"],[5714,"Congenital syphilis","MTCT of syphilis","Mother-to-child transmission of syphilis"],[16220,"Congenital temporomandibular joint ankylosis","Congenital trismus"],[10122,"Congenital thrombotic thrombocytopenic purpura","Congenital ADAMTS-13 deficiency","Congenital TTP","Familial TTP","Upshaw-Schulman syndrome","cTTP"],[7130,"Congenital total pulmonary venous return anomaly"],[5715,"Congenital toxoplasmosis","Mother-to-child transmission of toxoplasmosis","Toxoplasma embryofetopathy","Toxoplasma embryopathy"],[11340,"Congenital tracheal stenosis"],[19804,"Congenital tracheomalacia","Congenital major airway collapse"],[19813,"Congenital tricuspid stenosis"],[35314,"Congenital tricuspid valve dysplasia","obsolete congenital tricuspid valve dysplasia"],[7384,"Congenital trigeminal anesthesia"],[700463,"Congenital trochlear nerve palsy","Congenital CNIV palsy","Congenital fourth cranial nerve palsy","Congenital superior oblique palsy"],[13184,"Congenital tufting enteropathy","IED","Intestinal epithelial dysplasia","congenital diarrhea 5 with tufting enteropathy"],[20401,"Congenital unguarded mitral orifice"],[7443,"Congenital unilateral hypoplasia of depressor anguli oris","Isolated asymmetric crying facies"],[17372,"Congenital varicella syndrome","Antenatal varicella virus infection","Mother-to-child transmission of varicella syndrome"],[8180,"Congenital velopharyngeal incompetence"],[20831,"Congenital vertebral-cardiac-renal anomalies syndrome","Congenital NAD deficiency disorder"],[8652,"Congenital vertical talus","Congenital convex foot","Congenital convex pes valgus","Congenital rocker-bottom foot"],[17547,"Congenital vertical talus, bilateral"],[17546,"Congenital vertical talus, unilateral"],[35646,"Congenital-onset Steinert myotonic dystrophy","Congenital-onset Steinert disease","Congenital-onset myotonic dystrophy type 1"],[16301,"Congenitally corrected transposition of the great arteries","Congenitally corrected transposition of the great vessels","Discordant ventriculoarterial and atrioventricular connections","Double discordance"],[7388,"Congenitally short costocoracoid ligament"],[19443,"Congenitally uncorrected transposition of the great arteries","Discordant ventriculoarterial connections","Transposition of the great vessels","dextro-looped transposition of the great arteries"],[16303,"Congenitally uncorrected transposition of the great arteries with cardiac malformation","Congenitally uncorrected transposition of the great vessels with cardiac malformation","TGA with cardiac malformation"],[20385,"Congenitally uncorrected transposition of the great arteries with coarctation","Congenitally uncorrected transposition of the great vessels with coarctation","TGA with coarctation"],[958083,"Conjoined twins","Siamese twins"],[3454,"conjunctival cancer"],[6170,"conjunctival disorder"],[1228,"conjunctival folliculosis"],[2096,"Conjunctival malignant melanoma","Conjunctival melanoma","malignant conjunctival melanoma"],[1174,"conjunctival vascular disorder"],[3799,"conjunctivitis"],[2931,"conjunctivochalasis"],[12892,"Connective tissue disorder due to lysyl hydroxylase-3 deficiency","Bone fragility-contractures-arterial rupture-deafness syndrome","Bone fragility-contractures-arterial rupture-hearing loss syndrome","Connective tissue disorder due to LH3 deficiency","bone fragility with contractures, arterial rupture, and deafness"],[18490,"Cono-spondylar dysplasia","Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome"],[4929,"constant exophthalmos"],[2203,"constipation disorder"],[13456,"Constitutional megaloblastic anemia with severe neurologic disease","DHFR deficiency","Dihydrofolate reductase deficiency"],[31219,"Constitutional mismatch repair deficiency syndrome","CMMR-D syndrome","mismatch repair cancer syndrome"],[20099,"Constitutional sideroblastic anemia","inherited sideroblastic anemia"],[1853,"contact blepharoconjunctivitis"],[5717,"contagious pustular dermatitis"],[18571,"Contractures-developmental delay-Pierre Robin syndrome","5q23 microdeletion syndrome"],[10531,"Contractures-ectodermal dysplasia-cleft lip/palate syndrome","Ladda-Zonana-Ramer syndrome"],[17788,"Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome","Dinno syndrome","contractures - webbed neck - micrognathia - hypoplastic nipples syndrome"],[7134,"Cooks syndrome"],[8850,"Cooper-Jabs syndrome","Aural atresia-multiple congenital anomalies-intellectual disability syndrome"],[957874,"COQ7-related distal hereditary motor neuropathy","neuronopathy, distal hereditary motor, autosomal recessive 9"],[4596,"cor pulmonale"],[20429,"Cor triatriatum dexter","Cor triatriatum dextrum","Divided right atrium"],[20430,"Cor triatriatum sinister","Cor triatriatum sinistrum","Divided left atrium"],[7282,"Coralliform cataract","cataract 29"],[4549,"cork-handlers' disease"],[3802,"cornea cancer"],[1307,"corneal abscess"],[1716,"corneal argyrosis"],[1515,"corneal degeneration"],[1308,"corneal deposit"],[18102,"Corneal dystrophy"],[9015,"Corneal dystrophy-perceptive deafness syndrome","CDPD","Corneal dystrophy with progressive deafness","Corneal dystrophy with progressive hearing loss","Corneal dystrophy-perceptive hearing loss syndrome","Harboyan syndrome"],[1950,"corneal ectasia"],[15292,"Corneal endotheliitis","endotheliitis"],[1490,"corneal granular dystrophy"],[14089,"Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome"],[6713,"corneal neovascularization"],[1579,"corneal staphyloma"],[4577,"corneal ulcer"],[16033,"Cornelia de Lange syndrome","Brachmann-de Lange syndrome"],[7383,"Corneodermatoosseous syndrome","CDO syndrome","Stern-Lubinsky-Durrie syndrome"],[16081,"Coronary arterial fistula","coronary arterial fistulas"],[15203,"Coronary artery congenital malformation"],[20423,"Coronary ostial stenosis or atresia","COSA","Congenital coronary arterial orifice stenosis or atresia","Congenital stenosis or atresia of a coronary ostium","stenosis or atrophy of the coronary ostium"],[20447,"Coronary sinus atresia"],[20446,"Coronary sinus stenosis"],[10224,"Corpus callosum agenesis-abnormal genitalia syndrome","ACC-abnormal genitalia syndrome","Microcephaly-corpus callosum agenesis-abnormal genitalia syndrome","Proud syndrome","Proud-Levine-Carpenter syndrome"],[10333,"Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome","Graham-Cox syndrome"],[18725,"Corpus callosum agenesis-macrocephaly-hypertelorism syndrome","7q36.3 microduplication syndrome","Dup(7)(q36.3)"],[902,"Corpus callosum agenesis-neuronopathy syndrome","agenesis of the corpus callosum with peripheral neuropathy"],[1625,"corpus luteum cyst"],[1385,"cortical blindness"],[9024,"Cortical blindness-intellectual disability-polydactyly syndrome"],[13541,"Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation","complex cortical dysplasia with other brain malformations 1"],[22308,"corticobasal degeneration disorder"],[18696,"Corticobasal syndrome"],[12675,"Corticosteroid-binding globulin deficiency","Transcortin deficiency"],[9026,"Costello syndrome","FCS syndrome","Faciocutaneoskeletal syndrome"],[1491,"cough variant asthma"],[100096,"COVID-19"],[16063,"Cowden syndrome","Cowden disease","Multiple hamartoma syndrome"],[5720,"cowpox"],[7392,"Coxoauricular syndrome"],[7841,"Coxopodopatellar syndrome"],[859150,"CPE-related Prader-Willi-like syndrome","BDV syndrome","Blakemore-Durmaz-Vasileiou syndrome"],[35586,"Cramp-fasciculation syndrome"],[9028,"Crane-Heise syndrome"],[17079,"Cranial meningocele","meningoencephalocele"],[14019,"Cranio-cervical dystonia with laryngeal and upper-limb involvement","DYT24","Dystonia 24"],[15466,"Cranio-osteoarthropathy","Currarino disease","Currarino idiopathic osteoarthropathy","Reginato-Schiapachasse syndrome"],[9031,"Craniodiaphyseal dysplasia"],[15463,"Craniodigital-intellectual disability syndrome","Scott craniodigital syndrome","Scott-Bryant-Graham syndrome","craniodigital syndrome-intellectual disability syndrome"],[9032,"Cranioectodermal dysplasia","CED","Sensenbrenner syndrome"],[19406,"Craniofacial conodysplasia"],[7396,"Craniofacial dysostosis-diaphyseal hyperplasia syndrome","Autosomal dominant osteosclerosis, Stanescu type","Dysostosis, Stanescu type","Stanescu osteosclerosis"],[800438,"Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome","Developmental delay-short stature-dysmorphic features-sparse hair syndrome","Loucks-Innes syndrome","developmental delay with short stature, dysmorphic facial features, and sparse hair 1"],[15397,"Craniofacial microsomia"],[7395,"Craniofacial-deafness-hand syndrome","CDHS","Craniofacial-hearing loss-hand syndrome","Sommer-Young-Wee-Frye syndrome"],[7259,"Craniofaciofrontodigital syndrome","Cantu craniofaciofrontodigital syndrome"],[10570,"Craniofrontonasal dysplasia","CFND","CFNS","Craniofrontonasal syndrome"],[15464,"Craniofrontonasal dysplasia-Poland anomaly syndrome","Webster-Deming syndrome"],[11911,"Craniolenticulosutural dysplasia","Boyadjiev-Jabs syndrome"],[10014,"Craniometadiaphyseal dysplasia, wormian bone type"],[15465,"Craniometaphyseal dysplasia"],[11253,"Craniomicromelic syndrome"],[18907,"Craniopharyngioma"],[18969,"Craniorachischisis"],[7398,"Craniorhiny"],[15469,"Craniosynostosis"],[11481,"Craniosynostosis, Boston type","Craniosynostosis, Warman type","Warman-Mulliken-Hayward syndrome","craniosynostosis 2"],[16291,"Craniosynostosis, Herrmann-Opitz type"],[15467,"Craniosynostosis, Philadelphia type"],[11287,"Craniosynostosis-anal anomalies-porokeratosis syndrome","CAP syndrome","CDAGS syndrome"],[7401,"Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome","Braddock-Jones-Superneau syndrome"],[13615,"Craniosynostosis-dental anomalies","Kreiborg-Pakistani syndrome","craniosynostosis and dental anomalies"],[14128,"Craniosynostosis-facial dysmorphism-brachydactyly syndrome","TCF12-related syndromic craniosynostosis","TCF12-related craniosynostosis"],[957473,"Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome","ERF-related syndromic craniosynostosis"],[15751,"Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome","Berant syndrome","Capra-DeMarco syndrome","Familial scaphocephaly-radioulnar synostosis syndrome"],[12035,"Craniosynostosis-intracranial calcifications syndrome","Longman-Tolmie syndrome"],[32642,"Craniosynostosis-microretrognathia-severe intellectual disability syndrome","arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development"],[14705,"Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome","ZIC1-related syndromic craniosynostosis","craniosynostosis 6"],[9042,"Craniotelencephalic dysplasia"],[20507,"Cree leukoencephalopathy","leukoencephalopathy with vanishing white matter 1"],[18857,"Creeping myiasis"],[5357,"Creutzfeldt Jacob disease"],[9044,"Crigler-Najjar syndrome","Bilirubin uridinediphosphate glucuronosyltransferase deficiency","Bilirubin-UGT deficiency"],[21020,"Crigler-Najjar syndrome type 1","Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 1","Bilirubin-UGT deficiency type 1"],[11725,"Crigler-Najjar syndrome type 2","Bilirubin uridinediphosphate glucuronosyltransferase deficiency type 2","Bilirubin-UGT deficiency type 2"],[20501,"Crimean-Congo hemorrhagic fever","CCHF","Congo fever","Congo hemorrhagic fever","Crimean hemorrhagic fever"],[10091,"Crisponi syndrome","Cold-induced sweating syndrome 1"],[15449,"Criss-cross heart"],[1957,"critical illness polyneuropathy"],[5011,"Crohn disease"],[8283,"Cronkhite-Canada syndrome","Gastrointestinal polyposis-ectodermal changes syndrome","Gastrointestinal polyposis-skin pigmentation-alopecia-fingernail changes syndrome"],[8286,"Crossed polysyndactyly"],[5722,"croup"],[7405,"Crouzon syndrome","Crouzon craniofacial dysostosis"],[12833,"Crouzon syndrome-acanthosis nigricans syndrome","Crouzon-dermoskeletal syndrome"],[5576,"cryoglobulinemia"],[7407,"Cryoglobulinemic vasculitis","Essential cryoglobulinemia","Essential mixed cryoglobulinemia","Mixed cryoglobulinemia","Primary cryoglobulinemia"],[16168,"cryopyrin-associated periodic syndrome"],[5724,"Cryptococcosis"],[15585,"Cryptogenic late-onset epileptic spasms","Late-onset infantile spasms"],[18765,"Cryptogenic multifocal ulcerous stenosing enteritis","CMUSE"],[15264,"Cryptogenic organizing pneumonia","BOOP","Bronchiolitis obliterans organizing pneumonia","COP"],[7409,"Cryptomicrotia-brachydactyly-excess fingertip arch syndrome","Cryptomicrotia-brachydactyly syndrome","Tonoki-Ohura-Niikawa syndrome"],[15473,"Cryptorchidism-arachnodactyly-intellectual disability syndrome","Van Benthem-Driessen-Hanveld syndrome"],[15474,"Cryptosporidiosis","Cryptosporidium infection"],[14213,"CTCF-related neurodevelopmental disorder"],[11883,"Curly hair-acral keratoderma-caries syndrome","CHAC syndrome","CHACS","Curly hair - acral keratoderma - caries syndrome"],[8305,"Currarino syndrome","Currarino triad"],[11134,"Curry-Jones syndrome","Corpus callosum agenesis-polysyndactyly syndrome"],[9050,"Cushing disease","Corticotroph pituitary adenoma","Pituitary corticotroph micro-adenoma","Pituitary-dependent Cushing syndrome","Cushing disease due to pituitary adenoma"],[18912,"Cushing syndrome"],[9049,"Cushing syndrome due to bilateral macronodular adrenocortical disease","CS due to BMACD","CS due to BMAD","Cushing syndrome due to BMACD","Cushing syndrome due to BMAD","Cushing syndrome due to macronodular adrenal hyperplasia","Cushing syndrome due to primary bilateral macronodular adrenal hyperplasia"],[958258,"Cushing syndrome due to cortisol-producing adrenocortical adenoma","CS due to cortisol-producing adrenocortical adenoma"],[20527,"Cushing syndrome due to ectopic ACTH secretion","Adrenocorticotropic hormone secretion syndrome","Ectopic ACTH secreting tumor","Ectopic Cushing syndrome","Occult ectopic ACTH secretion","Paraneoplastic Cushing syndrome"],[4215,"cutaneous anthrax"],[17242,"Cutaneous collagenous vasculopathy","CCV"],[1479,"cutaneous diphtheria"],[18500,"Cutaneous larva migrans"],[5446,"cutaneous leishmaniasis"],[19314,"Cutaneous mastocytoma","Cutaneous local mastocytoma","Multiple mastocytoma","Solitary mastocytoma"],[19023,"cutaneous mastocytosis"],[9569,"Cutaneous mastocytosis-deafness-microtia syndrome","Cutaneous mastocytosis-hearing loss-microtia syndrome","Mastocytosis-short stature-deafness syndrome","Mastocytosis-short stature-hearing loss syndrome","Hennekam-Beemer syndrome"],[5012,"cutaneous melanoma"],[20568,"Cutaneous myiasis"],[19210,"Cutaneous neuroendocrine carcinoma","MCC","Merkel cell carcinoma"],[9051,"Cutaneous photosensitivity-lethal colitis syndrome"],[18592,"Cutaneous polyarteritis nodosa","Cutaneous PAN","Cutaneous periarteritis nodosa"],[18680,"Cutaneous pseudolymphoma"],[19509,"Cutaneous small vessel vasculitis","Cutaneous hypersensitivity vasculitis","cutaneous leukocytoclastic angiitis"],[7412,"Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome","Beare-Stevenson cutis gyrata syndrome"],[13170,"Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies","ARCL1C","Autosomal recessive cutis laxa type 1C","Urban-Rifkin-Davis syndrome"],[13574,"Cutis laxa-Marfanoid syndrome","cutis laxa - Marfanoid syndrome"],[9055,"Cutis marmorata telangiectatica congenita","CMTC"],[18754,"Cyanide poisoning"],[17640,"Cyanide-induced parkinsonism-dystonia","cyanide-induced parkinsonism"],[8090,"Cyclic neutropenia"],[5555,"cycloplegia"],[5725,"Cyclosporiasis"],[4572,"cyclothymic disorder"],[4894,"cyclotropia"],[8058,"Cylindrical spirals myopathy"],[7413,"Cyprus facial-neuromusculoskeletal syndrome"],[16092,"Cystadenoma of childhood","Cystadenoma of ovary in childhood","serous or mucinous cystadenoma of childhood"],[9058,"Cystathioninuria","Cystathionase deficiency","Cystathionine gamma-lyase deficiency syndrome","Gamma-cystathionase deficiency"],[18408,"Cystic echinococcosis","Hydatid cyst","Hydatid disease","Hydatidosis"],[9061,"Cystic fibrosis"],[9062,"Cystic fibrosis-gastritis-megaloblastic anemia syndrome","Lubani-Al Saleh-Teebi syndrome"],[7770003,"cystic fibrosis-related diabetes"],[23275,"Cystic hamartoma of lung and kidney","Graham-Boyle-Troxell syndrome"],[2473,"cystic kidney disease"],[13058,"Cystic leukoencephalopathy without megalencephaly","CLWM"],[15484,"Cysticercosis"],[16239,"Cystinosis","Protein defect of cystin transport"],[9067,"Cystinuria","Cystinuria-lysinuria syndrome"],[19745,"Cystinuria type A"],[19746,"Cystinuria type B"],[6032,"cystitis"],[7935,"Cystoid macular dystrophy","Autosomal dominant cystoid macular edema","DCMD","Familial macular edema","cystoid macular edema"],[600008,"cytokine release syndrome"],[19789,"Cytophagic histiocytic panniculitis","CHP","Winkelmann cytophagic panniculitis"],[18794,"Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder","PLA2G4A-related platelet dysfunction","Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency"],[8467,"Czeizel-Losonci syndrome","Split hand with obstructive uropathy, spina bifida and diaphragmatic defects","Split hand-urinary anomalies-spina bifida syndrome"],[14072,"D,L-2-hydroxyglutaric aciduria","D,L-2-hydroxyglutaric acidemia","Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia","Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria","D,L-2-HGA"],[10924,"D-2-hydroxyglutaric aciduria","D-2-HGA","D-2-hydroxyglutaric acidemia"],[9070,"D-glyceric aciduria","D-glycerate kinase deficiency","D-glyceric acidemia"],[4804,"dacryoadenitis"],[9533,"Dahlberg-Borer-Newcomer syndrome","Dahlberg syndrome","Lymphedema-hypoparathyroidism syndrome"],[9075,"Dandy-Walker malformation-postaxial polydactyly syndrome","DWM with postaxial polydactyly","Pierquin syndrome"],[10281,"Danon disease","GSD due to LAMP-2 deficiency","GSD, type 2B","GSD, type IIb","Glycogen storage disease due to LAMP-2 deficiency","Glycogen storage disease, type 2B","Glycogen storage disease, type IIb","Glycogenosis due to LAMP-2 deficiency","Lysosomal glycogen storage disease with normal acid maltase activity"],[7417,"Darier disease","Darier-White disease","Keratosis follicularis"],[13789,"DDOST-CDG","CDG syndrome type Ir","CDG-Ir","CDG1R","Carbohydrate deficient glycoprotein syndrome type Ir","Congenital disorder of glycosylation type 1r","Congenital disorder of glycosylation type Ir","DDOST-congenital disorder of glycosylation"],[14809,"DDX41-related hematologic malignancy predisposition syndrome"],[17569,"De Barsy syndrome","Cutis laxa-corneal clouding-intellectual disability syndrome","Progeroid syndrome, De Barsy type"],[6721,"de Quervain disease"],[11133,"Deaf blind hypopigmentation syndrome, Yemenite type","Warburg-Thomsen syndrome","Yemenite deaf-blind hypopigmentation syndrome"],[12541,"Deafness with labyrinthine aplasia, microtia, and microdontia","Hearing loss with labyrinthine aplasia, microtia, and microdontia","LAMM syndrome","Microdontia-type I microtia-deafness syndrome","Microdontia-type I microtia-hearing loss syndrome"],[7428,"Deafness-craniofacial syndrome","Hearing loss-craniofacial syndrome"],[7421,"Deafness-ear malformation-facial palsy syndrome","Hearing loss-ear malformation-facial palsy syndrome","Sellars-Beighton syndrome"],[100229,"Deafness-enamel hypoplasia-nail defects syndrome","Hearing loss-enamel hypoplasia-nail defects syndrome","Heimler syndrome","obsolete Heimler syndrome"],[13837,"Deafness-encephaloneuropathy-obesity-valvulopathy syndrome","Hearing loss-encephaloneuropathy-obesity-valvulopathy syndrome"],[11047,"Deafness-epiphyseal dysplasia-short stature syndrome","Chitty-Hall-Baraitser syndrome","Hearing loss-epiphyseal dysplasia-short stature syndrome"],[17920,"Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome","Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome","Pfeiffer-Kapferer syndrome"],[10575,"Deafness-hypogonadism syndrome","Hearing loss-hypogonadism syndrome"],[12621,"Deafness-infertility syndrome","DIS","Hearing loss-infertility syndrome"],[10353,"Deafness-intellectual disability syndrome, Martin-Probst type","Hearing loss-intellectual disability syndrome, Martin-Probst type","Martin-Probst syndrome","X-linked deafness-intellectual disability syndrome","X-linked hearing loss-intellectual disability syndrome","deafness-intellectual disability, Martin-Probst type syndrome"],[9089,"Deafness-oligodontia syndrome","Hearing loss-oligodontia syndrome"],[9086,"Deafness-small bowel diverticulosis-neuropathy syndrome","Groll-Hirschowitz syndrome","Hearing loss-small bowel diverticulosis-neuropathy syndrome"],[9085,"Deafness-vitiligo-achalasia syndrome","Hearing loss-vitiligo-achalasia syndrome"],[4646,"decubitus ulcer"],[20563,"Dedifferentiated liposarcoma","DDLS"],[1430,"deep corneal vascularisation"],[21660,"Deep dermatophytosis","Disseminated granulomatous dermatophytosis","deep seated dermatophytosis"],[17407,"Deficiency in anterior pituitary function-variable immunodeficiency syndrome","DAVID syndrome","deficiency in anterior pituitary function - variable immunodeficiency syndrome"],[14306,"Deficiency of adenosine deaminase 2","Adenosine deaminase 2 deficiency","DADA2","Vasculitis-autoinflammation-immunodeficiency- hematologic defects syndrome","ADA2 deficiency"],[2175,"degeneration of macula and posterior pole"],[1383,"degenerative myopia"],[17910,"Dehydrated hereditary stomatocytosis"],[7790,"Dejerine-Sottas syndrome","Charcot-Marie-Tooth disease type 3","HMSN 3","HMSN III","Hereditary motor and sensory neuropathy type 3","Hereditary motor and sensory neuropathy type III"],[17639,"Delayed encephalopathy due to carbon monoxide poisoning","Delayed encephalopathy due to CO poisoning","carbon monoxide-induced parkinsonism"],[7971,"Delayed membranous cranial ossification","Gonzales-del Angel syndrome"],[8445,"Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome","Mehes syndrome"],[15571,"Deletion 5q35 syndrome","Del (5)(q35)","Del (5)(qter)","Distal 5q deletion","Monosomy 5q35","Telomeric deletion 5q","deletion 5q35"],[16489,"Delta-beta-thalassemia"],[11028,"Delta-sarcoglycan-related limb-girdle muscular dystrophy R6","Limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2F","Autosomal recessive limb-girdle muscular dystrophy type 2F","Delta-sarcoglycan-related LGMD R6","Delta-sarcoglycanopathy","LGMD due to delta-sarcoglycan deficiency","LGMD type 2F","LGMD2F"],[1627,"dementia"],[19976,"Dementia pugilistica","Boxer's dementia","Chronic traumatic encephalopathy","Punch-drunk syndrome"],[17280,"Demodicidosis","Demodicosis"],[20800,"demyelinating disease of central nervous system"],[19207,"DEND syndrome","Developmental delay-epilepsy-neonatal diabetes syndrome"],[4380,"Dendritic cell sarcoma not otherwise specified","dendritic cell sarcoma"],[20082,"Dendritic cell tumor"],[5502,"Dengue fever","DF","Dengue virus infection","dengue disease"],[5358,"Dengue hemorrhagic fever"],[19736,"Dense deposit disease","Membranoproliferative glomerulonephritis type 2"],[15612,"Dent disease","Dent syndrome","Low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis","Renal Fanconi syndrome with nephrocalcinosis and renal stones","X-linked recessive hypercalciuric hypophosphatemic rickets","X-linked recessive nephrolithiasis"],[10225,"Dent disease type 1"],[10359,"Dent disease type 2"],[8007,"Dental ankylosis","Ankylosis of teeth","tooth ankylosis"],[5276,"dental caries"],[6722,"dental fluorosis"],[1326,"dental pulp necrosis"],[7435,"Dentatorubral pallidoluysian atrophy","DRPLA","Dentatorubropallidoluysian atrophy","Naito-Oyanagi disease","dentatorubral-pallidoluysian atrophy"],[15613,"Dentin dysplasia","DD"],[7436,"Dentin dysplasia type I","DD-I","DTDP1","Radicular dentin dysplasia"],[7437,"Dentin dysplasia type II","DD-II","DTDP2"],[7438,"Dentin dysplasia-sclerotic bones syndrome"],[18849,"Dentinogenesis imperfecta","DGI","DGI without OI","DI","Dentinogenesis imperfecta without osteogenesis imperfecta","Non-syndromic DGI","Non-syndromic dentinogenesis imperfecta","Opalescent teeth without OI","Opalescent teeth without osteogenesis imperfecta"],[7441,"Dentinogenesis imperfecta type 2","Capdepont teeth","DGI-2","DI-2","Dentinogenesis imperfecta, Shields type 2"],[7442,"Dentinogenesis imperfecta type 3","Dentinogenesis imperfecta, Shields type 3"],[19102,"Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome","Dentinogenesis imperfecta-short stature-deafness-intellectual disability syndrome"],[8682,"Denys-Drash syndrome","Drash syndrome","Wilms tumor-DSD syndrome","Wilms tumor-disorder of sex development syndrome"],[1157,"dependent personality disorder"],[2050,"depressive disorder"],[15614,"Dermatitis herpetiformis","Duhring-Brocq disease"],[11934,"Dermatofibrosarcoma protuberans","DFSP"],[9093,"Dermatoleukodystrophy","Cutis laxa-leukodystrophy"],[16367,"Dermatomyositis","Adult dermatomyositis"],[9095,"Dermatoosteolysis, Kirghizian type"],[7445,"Dermatopathia pigmentosa reticularis"],[4678,"dermatophytosis"],[2967,"dermatophytosis of scalp or beard"],[9161,"Dermatosparaxis Ehlers-Danlos syndrome","Dermatosparaxis EDS","Ehlers-Danlos syndrome type 7C","Human dermatosparaxis EDS VIIC","dEDS","Ehlers-Danlos syndrome, dermatosparaxis type"],[9094,"Dermochondrocorneal dystrophy","François syndrome"],[35159,"Dermoid or epidermoid cyst of the central nervous system","Dermoid or epidermoid cyst of the CNS"],[7449,"Dermoodontodysplasia","dermo-odonto dysplasia"],[20475,"Dermotrichic syndrome"],[15426,"Desbuquois syndrome","Desbuquois dysplasia"],[1462,"descending colon cancer"],[100100,"Desmin-related myopathy with Mallory body-like inclusions","Early-onset desmin-related myopathy","congenital myopathy 3 with rigid spine"],[11076,"Desminopathy","Desmin-related myofibrillar myopathy","myofibrillar myopathy 1"],[7608,"Desmoid tumor","Aggressive fibromatosis","Desmoid type fibromatosis"],[16731,"Desmoplastic infantile astrocytoma/ganglioglioma","DIA/DIG"],[19373,"Desmoplastic small round cell tumor","DSRCT"],[16711,"Desmoplastic/nodular medulloblastoma"],[11217,"Desmosterolosis"],[9887,"Desquamative interstitial pneumonia"],[800501,"Developmental and epileptic encephalopathy with spike-wave activation in sleep","Epileptic encephalopathy with continuous spike-and-wave during slow sleep","Epileptic encephalopathy with spike-and wave activation in sleep","CSWS","CSWSS syndrome","Continuous spikes and waves during sleep","Continuous spikes and waves during slow-wave sleep","DEE-SWAS","developmental and/or epileptic encephalopathy with spike-wave activation in sleep"],[14392,"developmental and epileptic encephalopathy, 25"],[17782,"Developmental and speech delay due to SOX5 deficiency"],[13579,"Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency","Developmental delay due to ALDH6A1 deficiency","Developmental delay due to MMSDH deficiency","methylmalonate semialdehyde dehydrogenase deficiency"],[14224,"Developmental delay with autism spectrum disorder and gait instability","Developmental delay with ASD and gait instability"],[15021,"Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome","HADDS","Hypotonia-ataxia-delayed developmental syndrome","hypotonia, ataxia, and delayed development syndrome"],[14773,"Developmental delay-facial dysmorphism syndrome due to MED13L deficiency","MED13L-related intellectual disability syndrome","cardiac anomalies - developmental delay - facial dysmorphism syndrome"],[850071,"Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome"],[859257,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome","intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism"],[15566,"Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion","Del(2)(q24)","Monosomy 2q24","2q24 microdeletion syndrome"],[957397,"Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome","intellectual developmental disorder, autosomal dominant 72"],[11823,"Developmental malformations-deafness-dystonia syndrome","Developmental malformations-hearing loss-dystonia syndrome"],[15661,"Dextrocardia"],[4782,"diabetes insipidus"],[5015,"diabetes mellitus"],[16018,"Diabetic embryopathy","Diabetes-induced teratogenicity"],[15253,"Diamond-Blackfan anemia","DBA","Congenital PRCA","Congenital pure red cell aplasia","Diamond-Blackfan anemia syndrome"],[11524,"Dianzani autoimmune lymphoproliferative disease","DALD"],[44635,"DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome","DIAPH1-related sensorineural deafness-thrombocytopenia syndrome"],[11946,"Diaphanospondylodysostosis"],[11007,"Diaphragmatic defect-limb deficiency-skull defect syndrome","Froster-Huch syndrome"],[35105,"Diaphragmatic hernia-short bowel-asplenia syndrome"],[7205,"Diaphyseal medullary stenosis-bone malignancy syndrome","Bone dysplasia-medullary fibrosarcoma syndrome","Diaphyseal medullary stenosis-malignant fibrous histiocytoma syndrome","Hardcastle syndrome"],[9107,"Diastrophic dysplasia","Diastrophic dwarfism"],[17188,"Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency","Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form"],[17187,"Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency","Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form"],[9110,"Dicarboxylic aminoaciduria","Glutamate-aspartate transport defect"],[100216,"DICER1 tumor-predisposition syndrome","PPB familial tumor and dysplasia syndrome","PPBFTDS","Pleuropulmonary blastoma familial tumor and dysplasia syndrome","DICER1-related tumor predisposition"],[15834,"Didelphys uterus","Bicervical bicornuate uterus"],[18259,"Didymosis aplasticosebacea","Aplasia cutis congenita-nevus sebaceus syndrome"],[15663,"Diencephalic syndrome","Diencephalic cachexia","Diencephalic syndrome of childhood","Diencephalic syndrome of emaciation","Russell diencephalic cachexia","Russell syndrome"],[17868,"Diencephalic-mesencephalic junction dysplasia"],[11012,"Dietary iron overload disease","African iron overload","Bantu siderosis"],[16012,"Diethylstilbestrol syndrome","DES syndrome","Diethylstilbestrol embryofetopathy","Distilbene embryofetopathy","DES embryofetopathy"],[1427,"Dieulafoy lesion"],[10824,"Difference of sex development-intellectual disability syndrome","Disorder of sex development-intellectual disability syndrome","Verloes-Gillerot-Fryns syndrome"],[15447,"Differentiated thyroid carcinoma","Papillary or follicular thyroid carcinoma","Well-differentiated thyroid carcinoma"],[19540,"Diffuse alveolar hemorrhage"],[14335,"Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome","diffuse cerebral and cerebellar atrophy - intractable seizures - progressive microcephaly syndrome"],[19315,"Diffuse cutaneous mastocytosis","DCM","Diffuse cutaneous maculopapulous mastocytosis"],[16356,"Diffuse cutaneous systemic sclerosis","Diffuse cutaneous systemic scleroderma","Progressive cutaneous systemic scleroderma","Progressive cutaneous systemic sclerosis"],[22986,"Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia"],[1694,"diffuse interstitial keratitis"],[18905,"Diffuse large B-cell lymphoma","DLBCL"],[17596,"Diffuse large B-cell lymphoma of the central nervous system","DLBCL of the CNS"],[17601,"Diffuse large B-cell lymphoma with chronic inflammation","DLBCL with chronic inflammation"],[16745,"Diffuse leptomeningeal melanocytosis","DLM","Leptomeningeal melanomatosis"],[18250,"Diffuse palmoplantar keratoderma with painful fissures"],[10849,"Diffuse palmoplantar keratoderma, Bothnian type","Diffuse palmoplantar keratoderma, Bothnia type","NEPPK, Bothnia type","NEPPK, Bothnian type","palmoplantar keratoderma, Bothnian type"],[19489,"Diffuse palmoplantar keratoderma-acrocyanosis syndrome","Diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome","diffuse palmoplantar keratoderma - acrocyanosis syndrome"],[11490,"Diffuse panbronchiolitis"],[971127,"Diffuse unilateral subacute neuroretinitis","DUSN","Unilateral wipe-out syndrome"],[958085,"Digenic hemochromatosis"],[8564,"DiGeorge syndrome"],[2516,"digestive system cancer"],[4335,"digestive system disorder"],[8809,"Digital extensor muscle aplasia-polyneuropathy","Congenital aplasia of the extensor muscles of the fingers and thumb associated with generalized polyneuropathy","Hamanishi-Ueba-Tsuji syndrome","Polyneuropathy-hand defect syndrome"],[17863,"Digitalis poisoning"],[9862,"Dihydropteridine reductase deficiency","Hyperphenylalaninemia due to dihydropteridine reductase deficiency","PKU type 2","Phenylketonuria type 2"],[10130,"Dihydropyrimidine dehydrogenase deficiency","Familial pyrimidinemia"],[9111,"Dihydropyrimidinuria","Dihydropyrimidinase deficiency"],[5021,"Dilated cardiomyopathy"],[12435,"Dilated cardiomyopathy with ataxia","3-methylglutaconic aciduria type 5","DCMA syndrome","MGA5"],[8915,"Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome","Cardiogenital syndrome","Malouf syndrome","Najjar syndrome"],[11610,"Dimethylglycine dehydrogenase deficiency","DMG dehydrogenase deficiency","DMGDH deficiency"],[16416,"Diphallia"],[5504,"Diphtheria"],[1681,"diphtheritic cystitis"],[15260,"Diphyllobothriasis","Bothriocephalosis"],[4618,"diplegia of upper limb"],[15672,"Diprosopus","Craniofacial duplication","Diprosopia"],[15636,"Dirofilariasis"],[19558,"Discoid lupus erythematosus"],[4706,"discoid lupus erythematosus of eyelid"],[20393,"Discrete fibromuscular subaortic stenosis"],[20392,"Discrete fixed membranous subaortic stenosis","obsolete discrete fixed membranous subaortic stenosis"],[19579,"Discrete papular lichen myxedematosus"],[11081,"Dislocation of the hip-dysmorphism syndrome","Collins-Pope syndrome"],[19216,"Disorder of amino acid absorption and transport","inborn disorder of amino acid transport"],[56798,"disorder of appendix"],[17762,"Disorder of copper metabolism"],[21147,"disorder of development or morphogenesis"],[19223,"Disorder of fatty acid oxidation and ketone body metabolism","disorder of fatty acid and ketone body metabolism"],[17689,"Disorder of fructose metabolism"],[17690,"Disorder of galactose metabolism"],[17763,"Disorder of iron metabolism and transport"],[17351,"Disorder of lysine and hydroxylysine metabolism","inborn disorder of lysine and hydroxylysine metabolism"],[17765,"Disorder of magnesium transport"],[19222,"Disorder of methionine cycle and sulfur amino acid metabolism","Cytosolic methyl group transfer or sulfur amino acid metabolism disorder","inborn disorder of methionine cycle and sulfur amino acid metabolism"],[3568,"disorder of optic chiasm"],[2022,"disorder of orbital region"],[17356,"Disorder of ornithine metabolism","inborn disorder of ornithine metabolism"],[17307,"Disorder of tyrosine metabolism"],[4739,"Disorder of urea cycle metabolism and ammonia detoxification","urea cycle disorder"],[17764,"Disorder of zinc metabolism and transport","disorder of zinc metabolism"],[1562,"displacement of cardia through esophageal hiatus"],[9848,"Dissecting cellulitis of the scalp"],[42233,"disseminated candidiasis"],[4657,"disseminated chorioretinitis"],[1243,"disseminated intravascular coagulation"],[6183,"Disseminated peritoneal leiomyomatosis","DPL","Diffuse peritoneal leiomyomatosis","LPD","Leiomyomatosis peritonealis disseminate"],[42484,"disseminated sporotrichosis"],[19212,"Disseminated superficial actinic porokeratosis"],[1655,"dissociated nystagmus"],[1185,"dissociative amnesia"],[13267,"Distal 16p11.2 microdeletion syndrome","Distal del(16)(p11.2)","Distal monosomy 16p11.2"],[17867,"Distal 17p13.1 microdeletion syndrome","Distal del(17)(p13.1)"],[16839,"Distal 17p13.3 microdeletion syndrome","Distal del(17)(p13.3 )","Distal monosomy 17p13.3"],[12740,"Distal 22q11.2 microdeletion syndrome","Distal del(22)(q11.2)","Distal monosomy 22q11.2","chromosome 22q11.2 deletion syndrome, distal"],[16846,"Distal 22q11.2 microduplication syndrome","Distal dup(22)(q11.2)","Distal trisomy 22q11.2"],[13393,"Distal 7q11.23 microdeletion syndrome","Distal del(7)(q11.23)","Distal monosomy 7q11.23"],[16832,"Distal 7q11.23 microduplication syndrome","Distal trisomy 7q11.23","Dup7q11.23D","Distal dup(7)(q11.23)"],[13222,"Distal anoctaminopathy","MMD3","Miyoshi muscular dystrophy type 3","Miyoshi muscular dystrophy 3"],[15240,"Distal arthrogryposis type 1","DA1","Digitotalar dysmorphism"],[16675,"Distal arthrogryposis type 10","Short Achilles tendon","Short tendo calcaneus","DA10","Plantar flexion contracture"],[14028,"Distal arthrogryposis type 5D","Distal arthrogryposis type 5 without ophthalmoplegia","DA5D","Distal arthrogryposis type 5 without ophthalmoparesis"],[11055,"Distal deletion 10p syndrome","Distal monosomy 10p","Monosomy 10pter","Telomeric deletion 10p"],[12315,"Distal deletion 10q syndrome","Deletion 10qter","Distal monosomy 10q","Monosomy 10qter","Telomeric deletion 10q","distal 10q deletion syndrome"],[17229,"Distal deletion 12p syndrome","12p13.33 microdeletion syndrome","Del(12)(p13.33)","Distal monosomy 12p"],[19897,"Distal deletion 12q syndrome","Distal monosomy 12q","Monosomy 12qter","Telomeric deletion 12q"],[11248,"Distal deletion 13q syndrome","13q32 deletion","Deletion 13q32","Distal monosomy 13q","Monosomy 13q32","Telomeric deletion 13q"],[19898,"Distal deletion 14q syndrome","Distal monosomy 14q","Telomeric deletion 14q"],[12964,"Distal deletion 15q syndrome","15q26 deletion syndrome","Distal monosomy 15q","Monosomy 15q26","Telomeric 15q deletion syndrome","chromosome 15q26-qter deletion syndrome"],[15562,"Distal deletion 17q syndrome","Distal monosomy 17q","Monosomy 17qter","Telomeric deletion 17q"],[19893,"Distal deletion 19p syndrome","Distal deletion 19p13.3","Distal monosomy 19p13.3","Telomeric deletion 19p"],[18205,"Distal deletion 1q syndrome","Monosomy 1qter","Telomeric deletion 1q","Distal monosomy 1q"],[13424,"Distal deletion 3p syndrome","3p deletion syndrome","3p- syndrome","Distal monosomy 3p","Monosomy 3pter","Telomeric monosomy 3p"],[19895,"Distal deletion 4q syndrome","Distal monosomy 4q","Monosomy 4qter","Telomeric deletion 4q"],[12948,"Distal deletion 6p syndrome","6p subtelomeric deletion syndrome","6p25 microdeletion syndrome","Distal deletion 6p25","Monosomy 6p25","Monosomy 6pter","chromosome 6pter-p24 deletion syndrome"],[19892,"Distal deletion 7p syndrome","Distal monosomy 7p","Monosomy 7pter","Telomeric deletion 7p"],[15605,"Distal deletion 9p syndrome","Distal monosomy 9p","Monosomy 9pter","Telomeric deletion 9p"],[19884,"Distal duplication 10q syndrome","Distal trisomy 10q","Telomeric duplication 10q","Trisomy 10qter"],[19885,"Distal duplication 11q syndrome","Telomeric duplication 11q","Trisomy 11qter","Distal trisomy 11q"],[19886,"Distal duplication 13q syndrome","Distal trisomy 13q","Telomeric duplication 13q","Trisomy 13qter"],[15726,"Distal duplication 14q syndrome","Telomeric duplication 14q","Trisomy 14qter","distal trisomy 14q"],[15728,"Distal duplication 15q syndrome","Distal trisomy 15q","Telomeric duplication 15q","Trisomy 15qter"],[19887,"Distal duplication 16q syndrome","Distal trisomy 16q","Telomeric duplication 16q","Trisomy 16qter"],[18069,"Distal duplication 17q syndrome","Distal trisomy 17q","Telomeric duplication 17q","Trisomy 17qter"],[15741,"Distal duplication 18q syndrome","Distal trisomy 18q","Telomeric duplication 18q","Trisomy 18qter"],[15744,"Distal duplication 19q syndrome","Distal trisomy 19q","Telomeric duplication 19q","Trisomy 19qter"],[19870,"Distal duplication 1p36 syndrome","Distal trisomy 1p36","Telomeric duplication 1p36","Trisomy 1pter"],[19888,"Distal duplication 20q syndrome","Distal trisomy 20q","Telomeric duplication 20q","Trisomy 20qter"],[19889,"Distal duplication 22q syndrome","Distal trisomy 22q","Telomeric duplication 22q","Trisomy 22qter"],[19871,"Distal duplication 2p syndrome","Trisomy 2pter","Distal trisomy 2p","Telomeric duplication 2p"],[19877,"Distal duplication 2q syndrome","Distal trisomy 2q","Telomeric duplication 2q","Trisomy 2qter"],[19872,"Distal duplication 3p syndrome","Distal trisomy 3p","Telomeric duplication 3p","Trisomy 3pter"],[19879,"Distal duplication 4q syndrome","Distal trisomy 4q","Telomeric duplication 4q","Trisomy 4qter"],[19880,"Distal duplication 5q syndrome","Distal trisomy 5q","Telomeric duplication 5q","Trisomy 5qter"],[15769,"Distal duplication 6p syndrome","Distal trisomy 6p","Telomeric duplication 6p","Trisomy 6pter"],[19881,"Distal duplication 6q syndrome","Distal trisomy 6q","Telomeric duplication 6q","Trisomy 6qter"],[19874,"Distal duplication 7p syndrome","Distal trisomy 7p","Telomeric duplication 7p","Trisomy 7pter"],[19882,"Distal duplication 8q syndrome","Distal trisomy 8q","Telomeric duplication 8q","Trisomy 8qter"],[19883,"Distal duplication 9q syndrome","Distal trisomy 9q","Telomeric duplication 9q","Trisomy 9qter"],[8451,"Distal hereditary motor neuropathy type 1","Autosomal dominant distal juvenile spinal muscular atrophy type 1","dHMN1","neuronopathy, distal hereditary motor, autosomal dominant 1"],[15352,"Distal hereditary motor neuropathy type 2","Distal spinal muscular atrophy type 2","dHMN2","dSMA2"],[100350,"Distal hereditary motor neuropathy type 5","Distal HMN V","Distal hereditary motor neuropathy type V","Distal spinal muscular atrophy type 5","dHMN5","neuronopathy, distal hereditary motor, type 5"],[15355,"Distal hereditary motor neuropathy type 7","Distal spinal muscular atrophy with vocal cord paralysis","dHMN7"],[11585,"Distal hereditary motor neuropathy, Jerash type","Autosomal recessive distal spinal muscular atrophy type 2","dHMNJ","autosomal recessive distal spinal muscular atrophy 2"],[9525,"Distal limb deficiencies-micrognathia syndrome","10q24 microduplication syndrome","Buttiens-Fryns syndrome","split hand-foot malformation 3"],[15580,"Distal monosomy 7q36 syndrome","Distal deletion 7q36","Monosomy 7qter","Telomeric deletion 7q36","distal monosomy 7q36"],[11721,"Distal myopathy with anterior tibial onset","Distal anterior compartment myopathy"],[13686,"Distal myopathy, Tateyama type"],[11466,"Distal myopathy, Welander type","WDM"],[15827,"Distal renal tubular acidosis","Classic RTA","Familial distal primary acidosis","Renal tubular acidosis type 1","dRTA"],[12700,"Distal renal tubular acidosis with anemia","dRTA with anemia","renal tubular acidosis, distal, 4, with hemolytic anemia"],[11771,"Distal spinal muscular atrophy type 3","Autosomal recessive distal spinal muscular atrophy type 3","Distal hereditary motor neuropathy type 3 and type 4","dHMN3 and dHMN4","dSMA3","neuronopathy, distal hereditary motor, autosomal recessive 3"],[13918,"Distal triplication 15q syndrome","Distal tetrasomy 15q","Tetrasomy 15(q25-qter)","Tetrasomy 15q26","Triplication 15q25-qter","Triplication 15q26"],[17404,"Distal Xq28 microduplication syndrome","Distal dup(X)q(28)","Distal trisomy Xq28","Int22h1/Int22h2 mediated-Xq28 microduplication syndrome"],[15675,"Distomatosis","Distomiasis","Fluke infection"],[1022,"disuse amblyopia"],[12556,"DK1-CDG","CDG syndrome type Im","CDG-Im","CDG1M","Carbohydrate deficient glycoprotein syndrome type Im","Congenital disorder of glycosylation type 1m","Congenital disorder of glycosylation type Im","Dolichol kinase deficiency","Hypotonia and ichthyosis due to dolichol phosphate deficiency","DK1-congenital disorder of glycosylation"],[14062,"DNA2-related mitochondrial DNA deletion syndrome","Mitochondrial DNA deletion syndrome with limb-girdle weakness","Mitochondrial DNA deletion syndrome with progressive myopathy","mtDNA deletion syndrome with limb-girdle weakness","mtDNA deletion syndrome with progressive myopathy"],[13947,"DNAJB2-related Charcot-Marie-Tooth disease type 2","DNAJB2-related CMT2","neuronopathy, distal hereditary motor, autosomal recessive 5"],[979361,"DNAJB4-related distal myopathy","asymetric thumb-handgrip weakness-distal myopathy"],[21018,"DNAJB6-related limb-girdle muscular dystrophy D1","Autosomal dominant limb-girdle muscular dystrophy type 1D","DNAJB6-related LGMD D1","LGMD type 1D","LGMD1D","Limb-girdle muscular dystrophy type 1D","autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6)"],[13726,"DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect","encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1"],[32882,"DNMT3A-related microcephalic dwarfism","HESJAS","Heyn-Sproul-Jackson syndrome","Microcephaly-short stature-intellectual disability syndrome"],[17980,"Dobrow syndrome","Syngnathia-multiple anomalies syndrome","syngnathia multiple anomalies"],[16579,"Dominant hypophosphatemia with nephrolithiasis or osteoporosis","obsolete dominant hypophosphatemia with nephrolithiasis or osteoporosis"],[9104,"Donnai-Barrow syndrome","DBS/FOAR syndrome","Diaphragmatic hernia-exomphalos-hypertelorism syndrome","Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome","Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome","FOAR syndrome","Facio-oculo-acoustico-renal syndrome","Holmes-Schepens syndrome","Syndrome of ocular and facial anomalies, telecanthus and deafness","Syndrome of ocular and facial anomalies, telecanthus and hearing loss"],[9517,"Donohue syndrome"],[35534,"DONSON-related microcephaly-short stature-limb abnormalities spectrum"],[9079,"DOORS syndrome","Autosomal recessive deafness-onychodystrophy syndrome","Autosomal recessive hearing loss-onychodystrophy syndrome","DOOR syndrome","Deafness-onychodystrophy-osteodystrophy-intellectual disability syndrome","Deafness-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome","Deafness-onychoosteodystrophy-intellectual disability syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability syndrome","Hearing loss-onychodystrophy-osteodystrophy-intellectual disability-seizures syndrome","Hearing loss-onychoosteodystrophy-intellectual disability syndrome"],[12994,"Dopa-responsive dystonia due to sepiapterin reductase deficiency","Autosomal recessive sepiapterin reductase-deficient DRD","DRD due to SRD","SPR deficiency","Sepiapterin reductase deficiency"],[9123,"Dopamine beta-hydroxylase deficiency","DBH deficiency","orthostatic hypotension 1"],[958349,"Dorsal spinal cord lipoma","Conus sparing spinal cord lipoma"],[18090,"Double outlet left ventricle","DOLV"],[18089,"Double outlet right ventricle","DORV"],[18499,"Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy","DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy"],[20388,"Double outlet right ventricle with non-committed subpulmonary ventricular septal defect","DORV with non-committed subpulmonary VSD"],[18498,"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect"],[20386,"Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis","DORV with subaortic or doubly committed VSD with pulmonary stenosis","DORV, Fallot type","Double outlet right ventricle, Fallot type"],[20387,"Double outlet right ventricle with subpulmonary ventricular septal defect"],[8636,"Double uterus-hemivagina-renal agenesis syndrome","Double uterus and obstructed hemivagina syndrome","HWW syndrome","Herlyn-Werner-Wunderlich syndrome","OHVIRA syndrome","Obstructed hemivagina and ipsilateral renal anomaly"],[19819,"Double-orifice mitral valve"],[8371,"Dowling-Degos disease","Reticular pigment anomaly of flexures"],[8608,"Down syndrome","Trisomy 21"],[11964,"DPAGT1-CDG","CDG syndrome type Ij","CDG-Ij","CDG1J","Carbohydrate deficient glycoprotein syndrome type Ij","Congenital disorder of glycosylation type 1j","Congenital disorder of glycosylation type Ij","Dolichyl-phosphate N-acetylgalactosamine phosphotransferase deficiency","DPAGT1-congenital disorder of glycosylation"],[12123,"DPM1-CDG","CDG syndrome type Ie","CDG-Ie","CDG1E","Carbohydrate deficient glycoprotein syndrome type Ie","Congenital disorder of glycosylation type 1e","Congenital disorder of glycosylation type Ie","Dol-P-mannosyltransferase deficiency"],[13049,"DPM3-CDG","CDG syndrome type Io","CDG-Io","CDG1O","Carbohydrate deficient glycoprotein syndrome type Io","Congenital disorder of glycosylation type 1o","Congenital disorder of glycosylation type Io","DPM3-congenital disorder of glycosylation"],[16472,"Dracunculiasis","Dracunculosis","Guinea worm disease","Medina worm disease","Medinensis"],[11794,"Dravet syndrome","SMEI","Severe myoclonic epilepsy of infancy","Severe myoclonus epilepsy of infancy","obsolete Dravet syndrome"],[100135,"Dravet syndrome"],[1049,"Dressler syndrome"],[17039,"Drug or radiation exposure-related interstitial lung disease"],[15340,"Drug reaction with eosinophilia and systemic symptoms","DRESS syndrome","Drug rash with eosinophilia and systemic symptoms"],[6731,"drug-induced akathisia"],[19535,"Drug-induced autoimmune hemolytic anemia","Drug-induced AIHA"],[19553,"Drug-induced localized lipodystrophy","Lipoatrophy caused by injected drug"],[16474,"Drug-induced lupus erythematosus","DILE"],[100637,"drug-induced myopathy"],[16664,"Drug-induced vasculitis"],[19985,"Drug-related renal tubular dysgenesis"],[24182,"dry beriberi"],[6733,"dry eye syndrome"],[7473,"Duane retraction syndrome","DRS","DURS","Duane syndrome","Stilling-Turk-Duane syndrome"],[35337,"Duane retraction syndrome with congenital deafness","DRS with deafness","DRS with hearing loss","DURS with deafness","DURS with hearing loss","Duane retraction syndrome with congenital hearing loss"],[9380,"Dubin-Johnson syndrome","Dubin-Sprinz disease","Hyperbilirubinemia type 2","Sprinz-Nelson syndrome"],[9124,"Dubowitz syndrome"],[10679,"Duchenne muscular dystrophy","DMD","Severe dystrophinopathy, Duchenne type"],[9126,"Duodenal atresia"],[5412,"duodenal ulcer"],[4627,"duodenitis"],[920,"duodenum cancer"],[17808,"Duplication of the pituitary gland","DPG-plus syndrome","Duplication of the pituitary gland-plus syndrome","Hypophyseal duplication"],[16529,"Duplication of urethra"],[19972,"Dural sinus malformation with arteriovenous shunt","Cranial dural arteriovenous fistula","Dural sinus malformation with arteriovenous fistulae","dural sinus malformation"],[9130,"Dyggve-Melchior-Clausen disease"],[8026,"DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy","DYNC1H1-related lower extremity-predominant autosomal dominant proximal spinal muscular atrophy","SMALED1","autosomal dominant childhood-onset proximal spinal muscular atrophy without contractures"],[13578,"DYRK1A-related intellectual disability syndrome","DYRK1A syndrome"],[17056,"DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion","21q22.13q22.2 microdeletion syndrome","Del(21)(q22.13q22.2)","Monosomy 21q22.13q22.2"],[18473,"Dysbetalipoproteinemia","Broad-beta disease","Familial dyslipidemia type 3","HLP type 3","Hyperlipidemia type 3","Hyperlipoproteinemia type 3","Remnant hyperlipoproteinemia"],[1552,"dyscalculia"],[7483,"Dyschromatosis symmetrica hereditaria","Acropigmentation of Dohi"],[736,"Dyschromatosis universalis hereditaria"],[5505,"Dysembryoplastic neuroepithelial tumor","DNET"],[9133,"Dysequilibrium syndrome","CAMRQ syndrome","Cerebellar ataxia-intellectual disability-dysequilibrium syndrome","Non-progressive cerebellar ataxia-intellectual disability syndrome","UTS","Uner Tan syndrome","cerebellar ataxia, intellectual disability, and dysequilibrium"],[9676,"Dysferlin-related limb-girdle muscular dystrophy R2","Autosomal recessive limb-girdle muscular dystrophy type 2B","Dysferlin-related LGMD R2","LGMD due to dysferlin deficiency","LGMD type 2B","LGMD2B","Limb-girdle muscular dystrophy due to dysferlin deficiency","Limb-girdle muscular dystrophy type 2B"],[6540,"dyshidrosis"],[15780,"Dyskeratosis congenita","DC","DKC","Zinsser-Engman-Cole syndrome"],[4729,"dyskinesia of esophagus"],[15782,"Dysmorphism-cleft palate-loose skin syndrome"],[14044,"Dysmorphism-conductive hearing loss-heart defect syndrome"],[16219,"Dysmorphism-pectus carinatum-joint laxity syndrome","Guízar Vázquez-Sánchez-Manzano syndrome"],[16433,"Dysmorphism-short stature-deafness-difference of sex development syndrome","Dysmorphism-short stature-deafness-disorder of sex development syndrome","Dysmorphism-short stature-hearing loss-disorder of sex development syndrome","Ieshima-Koeda-Inagaki syndrome"],[9138,"Dysosteosclerosis"],[2268,"dyspepsia"],[20418,"Dysphagia lusoria"],[7489,"Dysplasia epiphysealis hemimelica","Trevor disease"],[15678,"Dysplasia of head of femur, Meyer type","DECF","Dysplasia epiphysealis capitis femoris","Meyer dysplasia"],[16357,"Dysplastic cortical hyperostosis"],[11051,"Dysplastic cortical hyperostosis, Al-Gazali type","lethal short-limb skeletal dysplasia, Al Gazali type"],[100527,"Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type","Kozlowski-Tsuruta syndrome"],[16604,"Dysraphism-cleft lip/palate-limb reduction defects syndrome","Medeira-Dennis-Donnai syndrome"],[9139,"Dyssegmental dysplasia, Rolland-Desbuquois type"],[9140,"Dyssegmental dysplasia, Silverman-Handmaker type","Silverman-Handmaker type dyssegmental dysplasia"],[19412,"Dysspondyloenchondromatosis"],[1442,"dysthymic disorder"],[12789,"Dystonia 16","DYT16","Early-onset dystonia parkinsonism"],[15004,"Dystonia 28","DYT28","KMT2B-related dystonia","dystonia 28, childhood-onset"],[18476,"Dystonia-aphonia syndrome"],[14864,"Dystonia-parkinsonism-hypermanganesemia syndrome","hypermanganesemia with dystonia 2"],[3441,"dystonic disorder"],[6543,"Dystrophic epidermolysis bullosa","DEB","Dermolytic epidermolysis bullosa","Epidermolysis bullosa dystrophica"],[11398,"Dystrophic epidermolysis bullosa pruriginosa","DEB pruriginosa","DEB-Pr","Pruriginous dystrophic epidermolysis bullosa"],[1924,"dystrophies primarily involving the retinal pigment epithelium"],[18460,"Eales disease","Idiopathic retinal perivasculitis","Idiopathic retinal vasculitis"],[16817,"Ear-patella-short stature syndrome","Meier-Gorlin syndrome"],[800491,"Early infantile developmental and epileptic encephalopathy","early-infantile DEE"],[11060,"Early onset non-syndromic cataract","early-onset non-syndromic cataract"],[20373,"Early-onset anterior polar cataract","Early-onset anterior subcapsular cataract"],[850068,"Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency","Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to suppressor of cytokine signaling 1 haploinsufficiency","SOCS1-related autoinflammatory syndrome","early-onset autoimmunity-autoinflammation-immunodeficiency syndrome"],[15140,"Early-onset autosomal dominant Alzheimer disease","EOFAD","Early-onset familial autosomal dominant Alzheimer disease","Familial Alzheimer disease"],[34143,"Early-onset calcifying leukoencephalopathy-skeletal dysplasia","BANDDOS","Brain abnormalities-neurodegeneration-dysosteosclerosis disease"],[8938,"Early-onset cerebellar ataxia with retained tendon reflexes","EOCA","EOCARR","Harding ataxia"],[979316,"Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation","Early-onset CID with low Ig due to dominant-negative IKAROS mutation","Early-onset CID with low Ig due to dominant-negative IKZF1 mutation"],[14832,"Early-onset epilepsy-intellectual disability-brain anomalies syndrome","Congenital disorder of glycosylation due to PIGG deficiency","PIGG-CDG","intellectual disability, autosomal recessive 53"],[17325,"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation"],[14371,"Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome","Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome","developmental and epileptic encephalopathy, 23"],[35320,"Early-onset familial hypoaldosteronism","Early-onset familial hyperreninemic hypoaldosteronism","Severe aldosterone synthase deficiency"],[7492,"Early-onset generalized limb-onset dystonia","Dystonia musculorum deformans","EOTD","Early-onset generalized torsion dystonia","Early-onset isolated dystonia","Early-onset primary dystonia","Early-onset torsion dystonia","Idiopathic torsion dystonia","Oppenheim dystonia"],[958138,"Early-onset immune dysregulation due to DOCK11 complete deficiency","Early-onset immune dysregulation due to dedicator of cytokinesis 11 protein complete deficiency"],[958137,"Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency","Early-onset immune dysregulation with autoimmunity due to partial dedicator of cytokinesis 11 protein deficiency","early-onset autoimmune disorder due to DOCK11 partial deficiency"],[18611,"Early-onset lamellar cataract"],[12714,"Early-onset myopathy with fatal cardiomyopathy","EOMFC","Salih myopathy"],[13731,"Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome","EMARDD","MEGF10-related myopathy"],[20376,"Early-onset nuclear cataract"],[13483,"Early-onset obesity-hyperphagia-severe developmental delay syndrome","OBHD","obesity, hyperphagia, and developmental delay"],[10709,"Early-onset parkinsonism-intellectual disability syndrome","Laxova-Opitz syndrome","Waisman syndrome"],[20377,"Early-onset partial cataract"],[20378,"Early-onset posterior polar cataract"],[18610,"Early-onset posterior subcapsular cataract"],[44646,"Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome"],[16026,"Early-onset progressive encephalopathy with migrant continuous myoclonus","infant epilepsy with migrant focal crisis"],[44696,"Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome","Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome","PEBAS"],[44651,"Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome"],[17924,"Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome","Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome","central nervous system calcification-deafness-tubular acidosis-anemia syndrome"],[14209,"Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome","Spastic paraplegia type 79"],[44319,"Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome","intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies"],[13776,"Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome","AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome","Autosomal recessive spastic ataxia type 5","SPAX5","spastic ataxia 5"],[20372,"Early-onset sutural cataract","Early-onset cataract with Y-shaped suture opacities"],[10698,"Early-onset X-linked optic atrophy","OPA2","Optic atrophy type 2","Non-Leber type optic atrophy with early-onset","optic atrophy 2"],[20379,"Early-onset zonular cataract"],[13005,"EAST syndrome","Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome","Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome","SeSAME syndrome","Seizures-sensorineural deafness-ataxia-intellectual disability-electrolyte imbalance syndrome","Seizures-sensorineural hearing loss-ataxia-intellectual disability-electrolyte imbalance syndrome"],[11615,"East Texas bleeding disorder","FV East Texas bleeding disorder","Factor V East Texas bleeding disorder"],[5736,"Eastern equine encephalitis","Eastern equine encephalomyelitis"],[15645,"Eating reflex epilepsy","Eating epilepsy","Eating seizures"],[5737,"Ebola hemorrhagic fever","EHF","Ebola fever","Ebola virus disease"],[9144,"Ebstein malformation of the tricuspid valve","Ebstein anomaly of the tricuspid valve","Ebstein anomaly"],[29134,"EBV-induced lymphoproliferative disease due to CARMIL2 deficiency","EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency","severe combined immunodeficiency due to CARMIL2 deficiency"],[859526,"EBV-induced lymphoproliferative disease due to CD137 deficiency","Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency","immunodeficiency 109 with lymphoproliferation"],[34054,"EBV-induced lymphoproliferative disease due to CD70 deficiency","Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency","severe combined immunodeficiency due to CD70 deficiency"],[14391,"EBV-induced lymphoproliferative disease due to CTPS1 deficiency","EBV-induced lymphoproliferative disease due to CTP synthase 1 deficiency","combined immunodeficiency due to CTPS1 deficiency"],[8000024,"EBV-induced lymphoproliferative disease due to PRKCD deficiency","EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency","autoimmune lymphoproliferative syndrome, type III caused by mutation in PRKCD"],[32803,"EBV-induced lymphoproliferative disease due to RASGRP1 deficiency","Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency","immunodeficiency 64"],[30858,"EBV-induced lymphoproliferative disease due to TET2 deficiency","Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency","immunodeficiency 75"],[975755,"Eccrine angiomatous hamartoma","EAH","Eccrine angiomatous nevus"],[5738,"echinococcosis"],[1754,"eclampsia"],[20433,"Ectasia of the left atrial appendage","Dilatation of the left atrial appendage","Dilatation of the left auricle","Ectasia of the left auricle","ectasia of the left appendage"],[20432,"Ectasia of the right atrial appendage","Dilatation of the right atrial appendage","Dilatation of the right atrial auricle","Ectasia of the right atrial auricle"],[11041,"Ectodermal dysplasia with natal teeth, Turnpenny type"],[7511,"Ectodermal dysplasia, trichoodontoonychial type"],[10001,"Ectodermal dysplasia-blindness syndrome"],[13313,"Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome","ectodermal dysplasia-cutaneous syndactyly syndrome"],[9149,"Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome"],[13311,"Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome","ectodermal dysplasia-syndactyly syndrome"],[9146,"Ectodermal dysplasia-sensorineural deafness syndrome","Ectodermal dysplasia-sensorineural hearing loss syndrome"],[11472,"Ectodermal dysplasia-skin fragility syndrome","McGrath syndrome","epidermolysis bullosa simplex due to plakophilin deficiency"],[18664,"Ectopia cordis","Extrathoracic heart"],[15997,"Ectopia lentis-chorioretinal dystrophy-myopia syndrome","Noble-Bass-Sherman syndrome"],[43472,"ectopic ACTH secretion syndrome"],[16506,"Ectopic aldosterone-producing tumor","Extra-adrenal aldosterone-producing tumor"],[9156,"Ectrodactyly-polydactyly syndrome"],[2043,"ectropion"],[2136,"eczematous dermatitis of eyelid"],[13678,"EDICT syndrome","Autosomal dominant keratoconus with early-onset anterior polar cataracts","Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome","Familial keratoconus with cataract","KTCNCT"],[7519,"Edinburgh malformation syndrome","Typus Edinburgensis"],[10004,"EEC syndrome"],[9155,"EEM syndrome","Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome"],[850088,"EGF-related primary hypomagnesemia with intellectual disability"],[20066,"Ehlers-Danlos syndrome","EDS"],[16470,"Ehlers-Danlos/osteogenesis imperfecta syndrome","EDS/OI syndrome"],[16003,"Ehrlichiosis"],[10803,"Eiken syndrome"],[19944,"Eisenmenger syndrome"],[16439,"Elastoderma"],[16440,"Elastofibroma dorsi"],[16442,"Elastoma","Juvenile elastoma without osteopoikilosis","Nevus elasticus","Weidman juvenile elastoma"],[7529,"Elastosis perforans serpiginosa"],[9162,"Ellis-Van Creveld syndrome","Chondroectodermal dysplasia","Mesodermic dysplasia"],[12176,"Emanuel syndrome","Der(22)t(11;22) syndrome","Supernumerary der(22) syndrome"],[5440,"Embryonal carcinoma"],[18843,"Embryonal carcinoma of the central nervous system","Embryonal carcinoma of the CNS"],[9993,"Embryonal rhabdomyosarcoma"],[958119,"Embryonal tumor with multilayered rosettes","ETMR"],[24652,"embryonic cyst of fallopian tube"],[979307,"Emergomycosis","Emergomyces infection"],[16830,"Emery-Dreifuss muscular dystrophy","EDMD"],[7696,"Emery-Nelson syndrome","Hand and foot deformity-flat facies syndrome"],[44622,"EMILIN-1-related connective tissue disease"],[1040032,"EN1-related dorsoventral syndrome","ENDOVE syndrome","ENDOVES"],[8771,"Enamel-renal syndrome","Amelogenesis imperfecta-nephrocalcinosis syndrome","amelogenesis imperfecta type 1G"],[1010131,"Encapsulating peritoneal sclerosis","Abdominal cocoon syndrome","EPS","Sclerosing encapsulating peritonitis"],[19956,"encephalitis"],[19384,"Encephalitis lethargica","Von Economo encephalitis"],[13074,"Encephalocraniocutaneous lipomatosis","Haberland syndrome"],[54865,"Encephalopathy due to mitochondrial and peroxisomal fission defect"],[12719,"Encephalopathy due to prosaposin deficiency","Combined prosaposin deficiency","combined PSAP deficiency"],[19358,"Encephalopathy due to sulfite oxidase deficiency"],[13840,"Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome"],[20413,"Encircling double aortic arch"],[4375,"end stage renal failure"],[43257,"Endemic pemphigus foliaceus","Fogo selvagem","pemphigus and fogo selvagem"],[9169,"Endocardial fibroelastosis","Endomyocardial fibroelastosis"],[100638,"endocrine myopathy"],[12980,"Endocrine-cerebro-osteodysplasia syndrome","ECO syndrome"],[11962,"endometrial cancer"],[6745,"Endometrial stromal sarcoma","Stromal sarcoma of the corpus uteri","endometrioid stromal sarcoma"],[6335,"Endometrioid carcinoma of ovary","ovarian endometrioid adenocarcinoma"],[5133,"endometriosis"],[1287,"endometriosis in cutaneous scar"],[1284,"endometriosis of intestine"],[1285,"endometriosis of pelvic peritoneum"],[1288,"endometriosis of rectovaginal septum and vagina"],[3315,"endometrium carcinoma in situ"],[16047,"Endophthalmitis"],[7764,"Endosteal hyperostosis, Worth type","Autosomal dominant osteosclerosis, Worth type","Worth syndrome"],[7618,"Eng-Strom syndrome","Short stature-locking fingers syndrome"],[18953,"Enlarged parietal foramina","Catlin marks","Fenestrae parietales symmetricae","Foramina parietalia permagna","Hereditary cranium bifidum","Symmetric parietal foramina","parietal foramina"],[1210,"enophthalmos"],[12479,"Enteric anendocrinosis","Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells","congenital malabsorptive diarrhea 4"],[5746,"enterobiasis"],[19473,"Enteropathy-associated T-cell lymphoma","EATL","ETTL","Enteropathy-associated T-cell lymphoma type 1","Enteropathy-type T-cell lymphoma","Intestinal T-cell lymphoma"],[19437,"Enthesitis-related juvenile idiopathic arthritis","Enthesitis-related JIA","Juvenile ERA"],[18676,"Eosinophilic angiocentric fibrosis","IgG4-related eosinophilic angiocentric fibrosis"],[18439,"Eosinophilic colitis"],[5361,"eosinophilic esophagitis"],[9175,"Eosinophilic fasciitis","Diffuse fasciitis with eosinophilia","Shulman syndrome"],[16129,"Eosinophilic gastroenteritis","EGE","Eosinophilic enteritis","Eosinophilic gastroenterocolitis"],[15943,"Eosinophilic granulomatosis with polyangiitis","Churg-Strauss syndrome","EGPA","Granulomatous allergic angiitis"],[17926,"EPAS1-related polycythemia-pheochromocytoma/paraganglioma syndrome","EPAS1-related polycythemia-PPGL syndrome","Paraganglioma-somatostatinoma-polycythemia syndrome","multiple paragangliomas associated with polycythemia"],[16698,"Ependymoma","Classic ependymoma"],[20785,"EPHB4-related capillary malformation-arteriovenous malformation","CM-AVM2","capillary malformation-arteriovenous malformation 2"],[35475,"EPHB4-related lymphatic-related hydrops fetalis","EPHB4-related LRHF/GLD","EPHB4-related generalized lymphatic dysplasia with atrial septal defect","EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis"],[20461,"Epiblepharon"],[16510,"Epibulbar lipodermoid-preauricular appendage-polythelia syndrome"],[1875,"epicondylitis"],[1615,"epidemic keratoconjunctivitis"],[5751,"epidemic pleurodynia"],[19362,"Epidemic typhus","epidemic louse-borne typhus"],[18115,"Epidermal nevus syndrome","Epidermal hamartoma syndrome"],[7547,"epidermoid cysts"],[6541,"epidermolysis bullosa"],[18747,"Epidermolysis bullosa acquisita","Acquired epidermolysis bullosa"],[17610,"Epidermolysis bullosa simplex"],[14180,"Epidermolysis bullosa simplex due to BP230 deficiency","DST-related epidermolysis bullosa simplex","EBS due to BP230 deficiency","epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency"],[14014,"Epidermolysis bullosa simplex due to exophilin 5 deficiency","EBS due to exophilin 5 deficiency","epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive"],[16514,"Epidermolysis bullosa simplex with anodontia/hypodontia","EBS with anodontia/hypodontia","Kallin syndrome"],[12258,"Epidermolysis bullosa simplex with circinate migratory erythema","EBS with circinate migratory erythema","EBS-migr","epidermolysis bullosa simplex 2E, with migratory circinate erythema"],[7556,"Epidermolysis bullosa simplex with mottled pigmentation","EBS with mottled pigmentation","EBS-MP","epidermolysis bullosa simplex 2F, with mottled pigmentation"],[9181,"Epidermolysis bullosa simplex with muscular dystrophy","EBS with muscular dystrophy","EBS-MD","Limb-girdle muscular dystrophy with epidermolysis bullosa simplex","epidermolysis bullosa simplex 5B, with muscular dystrophy"],[12807,"Epidermolysis bullosa simplex with pyloric atresia","EBS with pyloric atresia","EBS-PA","epidermolysis bullosa simplex 5C, with pyloric atresia"],[44656,"Epidermolytic nevus","Epidermal nevus with epidermolytic hyperkeratosis","Epidermolytic epidermal nevus","Epidermolytic verrucous epidermal nevus"],[7758,"Epidermolytic palmoplantar keratoderma","epidermolytic palmoplantar keratoderma, 1"],[1016,"epididymis cancer"],[4779,"epididymitis"],[4778,"epididymo-orchitis"],[4473,"epiglottis cancer"],[15386,"Epignathus","Oropharyngeal teratoma"],[5027,"epilepsy"],[17385,"Epilepsy of infancy with migrating focal seizures","EIMFS","Epilepsy with migrating focal seizure in infancy","MMPEI","MMPSI","MPEI","MPSI","Malignant migrating partial epilepsy of infancy","Malignant migrating partial seizures of infancy","Migrating partial epilepsy of infancy","Migrating partial seizures of infancy"],[10898,"Epilepsy with auditory features","ADEAF","ADLTE","ADPEAF","Autosomal dominant epilepsy with auditory features","Autosomal dominant lateral temporal lobe epilepsy","EAF","Partial epilepsy with auditory aura","Partial epilepsy with auditory features"],[15346,"Epilepsy with eyelid myoclonia","EMA","EMEA","Eyelid myoclonia with and without absences","Jeavons syndrome"],[5754,"Epilepsy with generalized tonic-clonic seizures alone","EGTCS","Epilepsy with grand mal seizures on awakening","GTCA","epilepsy with generalized tonic-clonic seizures"],[19487,"Epilepsy with myoclonic absences"],[14633,"Epilepsy with myoclonic-atonic seizures","Doose syndrome","EMAS","EMAtS","Epilepsy with myoclonic-astatic seizures","MAE","Myoclonic atonic epilepsy","Myoclonic-astatic epilepsy in early childhood","epilepsy with myoclonic atonic seizures"],[7560,"Epilepsy with reading-induced seizures","EwRIS","reading seizures"],[11048,"Epilepsy-microcephaly-skeletal dysplasia syndrome","Battaglia-Neri syndrome"],[9188,"Epilepsy-telangiectasia syndrome"],[13056,"Epileptic encephalopathy with global cerebral demyelination","AGC1 deficiency","Mitochondrial aspartate-glutamate carrier 1 deficiency","developmental and epileptic encephalopathy, 39"],[1918,"epiphora due to excess lacrimation"],[1792,"epiphora due to insufficient drainage"],[15941,"Epiphyseal dysplasia-hearing loss-dysmorphism syndrome","Epiphyseal dysplasia-deafness-dysmorphism syndrome","Finucane-Kurtz-Scott syndrome"],[8175,"Epiphyseal stippling-osteoclastic hyperplasia syndrome","Pacman dysplasia"],[18382,"Epiphysiolysis of the hip","Slipped upper femoral epiphysis","Epiphysiolysis of the upper femur","Femoral head epiphysiolysis","SCFE","SUFE","Slipped capital femoral epiphysis"],[1439,"episcleritis periodica fugax"],[8047,"Episodic ataxia type 1","Episodic ataxia with myokymia"],[11682,"Episodic ataxia type 3","Episodic ataxia-vertigo-tinnitus-myokymia syndrome"],[11681,"Episodic ataxia type 4","PATX","Periodic vestibulocerebellar ataxia"],[13464,"Episodic ataxia type 5"],[12982,"Episodic ataxia type 6"],[12755,"Episodic ataxia type 7"],[14476,"Episodic ataxia with slurred speech","Episodic ataxia type 8"],[971077,"Episodic memory defect leukoencephalopathy","Hippocampal memory defect leukoencephalopathy","White matter hyperintensities-episodic memory defect leukoencephalopathy"],[7375,"Epithelial basement membrane dystrophy","Anterior basement membrane dystrophy","Cogan microcystic epithelial dystrophy","EBMD","Map-dot-fingerprint dystrophy"],[7381,"Epithelial recurrent erosion dystrophy","Dystrophia Helsinglandica","Dystrophia Smolandiensis","ERED","Recurrent hereditary corneal erosions"],[15523,"Epithelioid hemangioendothelioma","EHE"],[21169,"Epithelioid hemangioma","ALHE","Angiolymphoid hyperplasia with eosinophilia","EH","Epithelioid haemangioma"],[17387,"Epithelioid sarcoma"],[16787,"Epithelioid trophoblastic tumor"],[17784,"Epstein-Barr virus-associated gastric carcinoma","EBV-associated gastric carcinoma","EBVaGC"],[17346,"Epstein-Barr virus-positive diffuse large B-cell lymphoma","EBV-positive DLBCL","Epstein-Barr virus-positive diffuse large B-cell lymphoma not otherwise specified","Epstein-Barr virus-positive diffuse large B-cell lymphoma, NOS","Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly"],[1800,"equatorial staphyloma"],[700303,"Erb palsy"],[18153,"Erdheim-Chester disease"],[5362,"erectile dysfunction"],[9196,"Ermine phenotype","O'Doherty syndrome","Pigmentary disorder with deafness","Pigmentary disorder with hearing loss"],[16379,"Erosive pustular dermatosis of the scalp"],[1266,"erysipelas"],[6752,"Erysipelothrix rhusiopathiae infectious disease"],[19526,"Erythema elevatum diutinum"],[6544,"erythema infectiosum"],[6545,"erythema multiforme"],[44719,"Erythema multiforme major","Erythema exsudativum multiforme majus","Erythema multiforme majus"],[850231,"erythema nodosum"],[7570,"Erythema palmare hereditarium","Lane disease","Red palms disease"],[2885,"erythrasma"],[17691,"Erythrocyte galactose epimerase deficiency","Erythrocyte GALE deficiency","Erythrocyte GALE-D","Erythrocyte UDP-galactose-4-epimerase deficiency","Erythrocyte epimerase deficiency galactosemia","Erythrocyte uridine diphosphate galactose-4-epimerase deficiency"],[17787,"Erythroderma desquamativum","Leiner disease"],[17836,"Erythrokeratoderma ''en cocardes''","Degos genodermatosis \"en cocardes\"","erythrokeratoderma en cocardes"],[14355,"Erythrokeratodermia-cardiomyopathy syndrome","EKC syndrome","cardiomyopathy, dilated, with wooly hair, keratoderma, and tooth agenesis"],[16028,"erythromelalgia"],[17231,"Erythropoietic uroporphyria associated with myeloid malignancy"],[8586,"Esophageal atresia","esophageal atresia/tracheoesophageal fistula"],[7576,"esophageal cancer"],[1648,"esophageal candidiasis"],[1221,"esophageal varices"],[21645,"esophageal varices with bleeding"],[21644,"esophageal varices without bleeding"],[1409,"esophagitis"],[4708,"esophagus carcinoma in situ"],[4896,"esotropia"],[9252,"Essential fructosuria","Fructokinase deficiency","Ketohexokinase deficiency"],[20371,"Essential iris atrophy"],[5029,"Essential thrombocythemia","ET","Essential thrombocytosis"],[3233,"essential tremor"],[16029,"Esthesioneuroblastoma","Olfactory neuroblastoma"],[14148,"Estrogen resistance syndrome"],[1763,"ethmoid sinus cancer"],[17861,"Ethylene glycol poisoning"],[11229,"Ethylmalonic encephalopathy"],[5757,"eumycotic mycetoma"],[20464,"Euryblepharon"],[4866,"eustachian tube disorder"],[36045,"Euthyroid dysprealbuminemic hyperthyroxinemia","Euthyroid dystransthyretinemic hyperthyroxinemia"],[18756,"Euthyroid Graves orbitopathy","Euthyroid Graves ophthalmopathy"],[6755,"euthyroid sick syndrome"],[16030,"Evans syndrome","Immune pancytopenia","Autoimmune hemolytic anemia and autoimmune thrombocytopenia"],[14801,"EVEN-plus syndrome","Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome"],[1766,"eversion of lacrimal punctum"],[337,"exanthema subitum"],[1793,"excessive tearing"],[12396,"Exercise-induced hyperinsulinism","EIHI","Exercise-induced hyperinsulinemic hypoglycemia","Hyperinsulinism due to SLC16A1 deficiency","Hyperinsulinism due to monocarboxylate transporter 1 deficiency"],[18752,"Exercise-induced malignant hyperthermia","Exertional heat stroke"],[43233,"exfoliative dermatitis"],[17339,"Exfoliative ichthyosis","Autosomal recessive exfoliative ichthyosis","Ichthyosis exfoliativa"],[983,"exhibitionism"],[32724,"EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity","EXOC6B-SEMD-JL","SEMD-JL3","SEMDJL3","Spondyloepimetaphyseal dysplasia with joint laxity type 3","spondyloepimetaphyseal dysplasia with joint laxity, type 3"],[1684,"exocrine pancreatic insufficiency"],[7584,"Exostoses-anetodermia-brachydactyly type E syndrome"],[1286,"exotropia"],[4794,"exposure keratitis"],[1276,"expressive language disorder"],[17919,"Exstrophy-epispadias complex","BEEC","Bladder exstrophy-epispadias-cloacal extrophy complex","EEC"],[8540,"Extensor tendons of finger anomalies","Hapnes-Boman-Skeie syndrome"],[15385,"External auditory canal aplasia/hypoplasia","External auditory canal stenosis/atresia","obsolete external auditory canal aplasia/hypoplasia"],[7587,"External auditory canal atresia-vertical talus-hypertelorism syndrome","Rasmussen-Johnsen-Thomsen syndrome"],[2776,"external ear disorder"],[24303,"external hirudiniasis"],[44632,"Extracranial carotid artery aneurysm","ECAA","ECCA"],[19025,"Extracutaneous mastocytoma"],[15935,"Extragonadal germinoma"],[19500,"Extragonadal teratoma"],[17246,"Extralobar congenital pulmonary sequestration","Congenital extrapulmonary sequestration","Extralobar congenital bronchopulmonary sequestration"],[8177,"Extramammary Paget disease"],[968987,"Extramedullary conus spinal cord lipoma"],[2754,"extramedullary plasmacytoma"],[15043,"Extramedullary soft tissue plasmacytoma"],[15031,"Extraneural perineurioma","Soft tissue perineurioma"],[19472,"Extranodal nasal NK/T cell lymphoma","Angiocentric T-cell lymphoma","Lethal midline granuloma","NK/T-cell lymphoma","NKTCL","Nasal T/natural killer-cell lymphoma"],[1815,"extrapyramidal and movement disease"],[18270,"Extraskeletal Ewing sarcoma","EOE","Extraosseous Ewing sarcoma","Extraosseous Ewing tumor","Extraskeletal Ewing tumor"],[12825,"Extraskeletal myxoid chondrosarcoma"],[7588,"Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome","Char-Douglas-Dungan syndrome"],[16727,"Extraventricular neurocytoma","EVN"],[4659,"eye carcinoma in situ"],[4884,"eye degenerative disorder"],[9200,"Eyebrow duplication-syndactyly syndrome"],[3382,"eyelid disorder"],[21588,"Eyelid sebaceous carcinoma","eyelid sebaceous gland carcinoma"],[850053,"F12-associated cold autoinflammatory syndrome","FACAS"],[12526,"F12-related hereditary angioedema with normal C1Inh","F12-related HAE with normal C1 inhibitor","HAE 3","HAE-III","Hereditary angioedema type 3","Hereditary angioneurotic edema type 3","Inherited estrogen-associated angioedema","Inherited estrogen-associated angioneurotic edema","Inherited estrogen-dependent angioedema","Inherited estrogen-dependent angioneurotic edema"],[10526,"Fabry disease","Alpha-galactosidase A deficiency","Anderson-Fabry disease","FD"],[15380,"Facial dermoid cyst","Dermoid cyst of the face"],[18818,"Facial diplegia with paresthesias","Facial diplegia with paresthesias variant of GBS","Facial diplegia with paresthesias variant of Guillain-Barré syndrome"],[16031,"Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome","FACES syndrome","Friedman-Goodman syndrome"],[17283,"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion","10p12p11 microdeletion syndrome","Del(10)(p11.21p12.31)","Deletion 10p11.21p12.31","Desanto-Shinawi syndrome due to 10p11.21p12.31 microdeletion","Monosomy 10p11.21p12.31"],[14741,"Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation","Desanto-Shinawi syndrome due to WAC point mutation"],[32820,"Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome","RAC3-related syndrome","neurodevelopmental disorder with structural brain anomalies and dysmorphic facies"],[32714,"Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome","FHEIG syndrome","facial dysmorphism, hypertrichosis, epilepsy, intellectual/developmental delay, and gingival overgrowth syndrome"],[14058,"Facial dysmorphism-immunodeficiency-livedo-short stature syndrome","FILS syndrome"],[11106,"Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome","FDLAB syndrome","Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome","Traboulsi syndrome"],[9074,"Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome"],[12634,"Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome","craniofacial dysplasia - osteopenia syndrome"],[15781,"Facial dysmorphism-shawl scrotum-joint laxity syndrome","Seaver-Cassidy syndrome"],[2098,"facial nerve disorder"],[19405,"Facial onset sensory and motor neuronopathy","FOSMN syndrome"],[9205,"Faciocardiorenal syndrome","Eastman-Bixler syndrome"],[1347,"Facioscapulohumeral dystrophy","FSH dystrophy","FSHD","Facioscapulohumeral muscular dystrophy","Facioscapulohumeral myopathy","Landouzy-Dejerine dystrophy","Landouzy-Dejerine myopathy"],[35743,"Factor V Amsterdam bleeding disorder","FV Amsterdam bleeding disorder"],[35759,"Factor V Atlanta bleeding disorder","FV Atlanta bleeding disorder"],[35742,"Factor V short isoforms-related bleeding disorder","FV short isoforms-related bleeding disorder"],[13408,"FADD-related immunodeficiency"],[1282,"fallopian tube endometriosis"],[10999,"Fallot complex-intellectual disability-growth delay syndrome","Bindewald-Ulmer-Müller syndrome"],[7031,"Familial abdominal aortic aneurysm"],[11953,"Familial acute necrotizing encephalopathy","ADANE","Recurrent acute necrotizing encephalopathy"],[21055,"Familial adenomatous polyposis","classic familial adenomatous polyposis"],[8731,"Familial adrenal hypoplasia with absent pituitary luteinizing hormone","Familial adrenal hypoplasia with absent pituitary LH","Familial adrenal hypoplasia, miniature type"],[19448,"Familial adult myoclonic epilepsy","ADCME","Autosomal dominant cortical myoclonus and epilepsy","BAFME","Benign adult familial myoclonus epilepsy","FAME","FCMTE","Familial cortical myoclonic tremor and epilepsy","benign adult familial myoclonic epilepsy"],[15609,"Familial advanced sleep-phase syndrome","FASPS","advanced sleep phase syndrome"],[8737,"Familial afibrinogenemia","congenital afibrinogenemia"],[17233,"Familial Alzheimer-like prion disease"],[16445,"Familial anetoderma","Hereditary anetoderma","Hereditary macular atrophy"],[8792,"Familial angiolipomatosis"],[24559,"Familial aortic dissection","Annuloaortic ectasia","Cystic medial necrosis of aorta","aortic aneurysm, familial thoracic 1"],[7762,"Familial apolipoprotein A5 deficiency","Familial APOA5 deficiency","Familial apolipoprotein A-V deficiency","hyperlipoproteinemia type V"],[8810,"Familial apolipoprotein C-II deficiency","Familial APOC2 deficiency","Familial apoC-II deficiency"],[7842,"Familial articular hypermobility syndrome","Familial joint instability syndrome","Familial joint laxity","Joint instability syndrome","joint laxity, familial"],[9719,"Familial atrial myxoma"],[18453,"Familial atypical multiple mole melanoma syndrome"],[12126,"Familial avascular necrosis of femoral head","Familial osteonecrosis of the femoral head"],[7368,"Familial benign copper deficiency","Familial benign hypocupremia"],[9235,"Familial benign flecked retina"],[7194,"Familial bicuspid aortic valve","Familial BAV"],[7319,"Familial calcium pyrophosphate deposition","chondrocalcinosis 2"],[10831,"Familial caudal dysgenesis","Rudd-Klimek syndrome"],[12687,"Familial cavitary optic disc anomaly","Familial CODA","familial cavitary optic disk anomaly"],[31037,"Familial cerebral cavernous malformation","Familial brain cavernous angioma","Familial cerebral cavernoma","Hereditary brain cavernous angioma","Hereditary cerebral cavernoma","Hereditary cerebral cavernous malformation","famililal cerebral cavernous malformations"],[16483,"Familial cerebral saccular aneurysm","Familial berry aneurysm","Familial intracranial saccular aneurysm","intracranial berry aneurysm"],[18827,"Familial Chilblain lupus"],[18637,"Familial chylomicronemia syndrome"],[13329,"Familial clubfoot due to 17q23.1q23.2 microduplication","Hereditary clubfoot due to 17q23.1-q23.2 microduplication"],[17382,"Familial clubfoot due to 5q31 microdeletion","Hereditary clubfoot due to 5q31 microdeletion"],[17383,"Familial clubfoot due to PITX1 point mutation","Hereditary clubfoot due to PITX1 point mutation"],[16046,"Familial clubfoot with or without associated lower limb anomalies"],[18768,"Familial cold urticaria","FCAS","FCU","Familial cold autoinflammatory syndrome"],[18604,"Familial colorectal cancer Type X","FCCTX"],[16558,"Familial congenital mirror movements","Familial congenital controlateral synkinesia","Hereditary congenital controlateral synkinesia","Hereditary congenital mirror movements","Isolated congenital controlateral synkinesia","Isolated congenital mirror movements"],[7871,"Familial congenital nasolacrimal duct obstruction"],[7626,"Familial congenital palsy of trochlear nerve"],[13981,"Familial cortical myoclonus","myoclonus, familial"],[7271,"Familial cutaneous collagenoma"],[13806,"Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome","familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome"],[7565,"Familial cylindromatosis","Turban tumor syndrome"],[7448,"familial dermatographia"],[10821,"Familial developmental dysphasia","Billard-Toutain-Maheut syndrome","FOXP2-associated dysphasia"],[11732,"Familial digital arthropathy-brachydactyly"],[7269,"Familial dilated cardiomyopathy with conduction defect due to LMNA mutation","dilated cardiomyopathy 1A"],[9131,"Familial dysautonomia","HSAN3","Hereditary sensory and autonomic neuropathy type 3","Hereditary sensory and autonomic neuropathy type III","Riley-Day syndrome"],[14452,"Familial dysfibrinogenemia"],[800028,"Familial dyskinesia and facial myokymia","FDFM","dyskinesia with orofacial involvement, autosomal dominant"],[11412,"Familial encephalopathy with neuroserpin inclusion bodies","FENIB"],[18319,"Familial episodic pain syndrome","FEPS"],[14247,"Familial episodic pain syndrome with predominantly lower limb involvement"],[14021,"Familial episodic pain syndrome with predominantly upper body involvement"],[8275,"Familial expansile osteolysis","Hereditary expansile polyostotic osteolytic dysplasia","McCabe disease"],[19516,"Familial exudative vitreoretinopathy","Criswick-Schepens syndrome","FEVR","exudative vitreoretinopathy"],[20310,"Familial focal epilepsy with variable foci","FFEVF","Familial partial epilepsy with variable foci"],[18742,"Familial gastric type 1 neuroendocrine tumor"],[7891,"Familial generalized lentiginosis","Familial lentigines profusa","Familial multiple lentigines syndrome without systemic involvement"],[11309,"Familial gestational hyperthyroidism"],[8733,"Familial glucocorticoid deficiency"],[14412,"Familial GPIHBP1 deficiency","Familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency","hyperlipoproteinemia, type 1D"],[15541,"Familial hemophagocytic lymphohistiocytosis","Familial HLH","hereditary hemophagocytic lymphohistiocytosis"],[7080,"Familial hyperaldosteronism type I","Dexamethasone-sensitive hypertension","FH-I","FH1","Familial hyperaldosteronism type 1","GRA","Glucocorticoid-remediable aldosteronism","Glucocorticoid-sensitive hypertension"],[11576,"Familial hyperaldosteronism type II","FH-II","FH2","Familial hyperaldosteronism type 2"],[13359,"Familial hyperaldosteronism type III","FH-III","FH3","Familial hyperaldosteronism type 3"],[14875,"Familial hyperaldosteronism type IV","FH4","hyperaldosteronism, familial, type IV"],[15903,"Familial Hyperalphalipoproteinemia","hyperalphalipoproteinemia"],[31446,"Familial hypercholanemia","Hereditary hypercholanemia","hypercholanemia, familial 1"],[5439,"familial hypercholesterolemia"],[850069,"Familial hyperinflammatory lymphoproliferative immunodeficiency","HEM1 deficiency syndrome","NCKAP1L-associated hyperinflammatory disorder"],[100251,"Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome","Hypercalcemic tumoral calcinosis"],[14250,"Familial hyperprolactinemia","Familial isolated prolactin receptor deficiency"],[12203,"Familial hyperthyroidism due to mutations in TSH receptor","Familial non-immune hyperthyroidism","Resistance to thyroid stimulating hormone"],[18541,"Familial hypoaldosteronism"],[18458,"Familial hypocalciuric hypercalcemia","FBH","FBHH","FHH","Familial benign hypercalcemia","Familial benign hypocalciuric hypercalcemia"],[7791,"Familial hypocalciuric hypercalcemia type 1","FHH type 1","familial hypocalciuric hypercalcemia 1"],[7792,"Familial hypocalciuric hypercalcemia type 2","FHH type 2","familial hypocalciuric hypercalcemia 2"],[10926,"Familial hypocalciuric hypercalcemia type 3","FHH type 3","familial hypocalciuric hypercalcemia 3"],[16638,"Familial hypodysfibrinogenemia"],[15096,"Familial hypofibrinogenemia"],[15666,"Familial idiopathic dilatation of the right atrium"],[44816,"familial idiopathic torsion dystonia"],[10080,"Familial infantile bilateral striatal necrosis","Familial IBSN","Familial infantile striatonigral degeneration","Familial infantile striatonigral necrosis"],[8666,"Familial intestinal malrotation","volvulus of midgut"],[11744,"Familial intraosseous vascular malformation","Hereditary intraosseous vascular malformation","VMOS","primary intraosseous venous malformation"],[7245,"Familial isolated café-au-lait macules","CALs syndrome isolated","Familial CALMs isolated","Familial isolated CALSs","Familial isolated café-au-lait spots","Multiple isolated café-au-lait spots","Multiple isolated café-au-lait syndrome","cafe au lait spots, multiple"],[17461,"Familial isolated clinodactyly of fingers"],[10066,"Familial isolated congenital asplenia"],[700335,"Familial isolated dilated cardiomyopathy","Familial or idiopathic dilated cardiomyopathy"],[15027,"Familial isolated hyperparathyroidism"],[16390,"Familial isolated hypoparathyroidism","familial hypoparathyroidism"],[10618,"Familial isolated hypoparathyroidism due to agenesis of parathyroid gland"],[16000,"Familial isolated hypoparathyroidism due to impaired PTH secretion"],[17824,"Familial isolated pituitary adenoma","FIPA"],[19150,"Familial isolated restrictive cardiomyopathy","obsolete familial isolated restrictive cardiomyopathy"],[8373,"Familial isolated retinal arteriolar tortuosity","Familial retinal arteriolar tortuosity","Retinal arteriolar tortuosity","Retinal hemorrhage with vascular tortuosity","Tortuosity of retinal arteries","retinal arterial tortuosity"],[18472,"Familial isolated trichomegaly"],[7237,"Familial juvenile hypertrophy of the breast","Familial juvenile gigantomastia","Virginal breast hypertrophy"],[18851,"Familial keratoacanthoma","Hereditary keratoacanthoma","Multiple keratoacanthoma"],[9515,"Familial LCAT deficiency","Complete LCAT deficiency","FLD","Norum disease"],[9527,"Familial lipase maturation factor 1 deficiency","Familial LMF1 deficiency","lipase deficiency, combined"],[9387,"Familial lipoprotein lipase deficiency","LPL deficiency"],[14388,"Familial median cleft of the upper and lower lips"],[18088,"Familial Mediterranean fever","Benign paroxysmal peritonitis","Benign recurrent polyserositis","FMF","Familial paroxysmal polyserositis","Periodic disease"],[18961,"Familial melanoma"],[800493,"Familial mesial temporal lobe epilepsy","FLTLE"],[8004,"Familial mitral valve prolapse"],[44645,"Familial monosomy 7 syndrome"],[7681,"Familial multinodular goiter","FMNG","Familial MNG","Familial multinodular goiter syndrome","goiter, multinodular 1, with or without Sertoli-Leydig cell tumors"],[8594,"Familial multiple discoid fibromas","Familial multiple trichodiscomas"],[7909,"Familial multiple lipomatosis"],[16995,"Familial multiple meningioma"],[8094,"Familial multiple nevi flammei","Familial multiple port-wine stains"],[11114,"Familial multiple trichoepithelioma"],[19634,"Familial nasal acilia"],[12502,"Familial normophosphatemic tumoral calcinosis","normophosphatemic familial tumoral calcinosis"],[17235,"Familial omphalocele syndrome with facial dysmorphism"],[18925,"Familial or sporadic hemiplegic migraine"],[7660,"Familial ossifying fibroma","Familial Gigantiform cementoma","Multiple ossifying fibroma"],[100462,"Familial osteochondritis dissecans","Osteochondritis dissecans and short stature","short stature and advanced bone age, with or without early-onset osteoarthritis and/or osteochondritis dissecans"],[9801,"Familial osteodysplasia, Anderson type"],[15278,"Familial pancreatic carcinoma","Familial pancreatic cancer"],[17895,"Familial papillary or follicular thyroid carcinoma","FNMTC","Familial pure nonmedullary thyroid carcinoma"],[11578,"Familial papillary thyroid carcinoma with renal papillary neoplasia","PTC-RCC"],[7163,"Familial paroxysmal ataxia","Episodic ataxia type 2"],[7906,"Familial partial lipodystrophy, Dunnigan type","Dunnigan syndrome","FPLD2","Familial partial lipodystrophy type 2"],[12072,"Familial partial lipodystrophy, Köbberling type","FPLD1","Familial partial lipodystrophy type 1","familial partial lipodystrophy, Kobberling type"],[11827,"Familial patent arterial duct","patent ductus arteriosus"],[8303,"Familial peripheral male-limited precocious puberty","FMPP","Familial gonadotropin-independent male-limited sexual precocity","Male-limited precocious puberty","Testotoxicosis","familial male-limited precocious puberty"],[11071,"Familial platelet disorder with associated myeloid malignancy","FPD/AML","FPDMM","FPS/AML","Familial platelet disorder with predisposition to acute myelogenous leukemia","Familial platelet disorder with predisposition to myeloid malignancy","Familial platelet disorder with propensity to acute myeloid leukemia","Familial thrombocytopenia with propensity to acute myelogenous leukemia","RUNX1 familial platelet disorder","RUNX1 familial platelet disorder with associated myeloid malignancies","RUNX1-FPD","RUNX1-FPDMM","hereditary thrombocytopenia and hematologic cancer predisposition syndrome"],[1115,"familial polycythemia"],[20496,"Familial porencephaly"],[8296,"Familial porphyria cutanea tarda","Porphyria cutanea tarda type II"],[7101,"Familial primary localized cutaneous amyloidosis","FPLCA"],[17239,"Familial progressive hyper- and hypopigmentation","FPHH"],[13648,"Familial progressive hyperpigmentation","Melanosis diffusa congenita","Melanosis universalis hereditaria","Universal melanosis"],[14747,"Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome"],[12204,"Familial pseudohyperkalemia"],[8337,"Familial pterygium of the conjunctiva"],[9000,"Familial reactive perforating collagenosis"],[7592,"Familial recurrent peripheral facial palsy","Familial recurrent Bell palsy"],[9297,"Familial renal glucosuria","Familial renal glycosuria","SGLT2 deficiency"],[13640,"Familial retinal arterial macroaneurysm","FRAM","Retinal arterial macroaneurysm and supravalvular pulmonic stenosis"],[12307,"Familial scaphocephaly syndrome, McGillivray type","Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome"],[18829,"Familial schizencephaly"],[8259,"Familial spontaneous pneumothorax"],[33203,"Familial steroid-resistant nephrotic syndrome with adrenal insufficiency","Primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency","SPLIS","Sphingosine phosphate lyase insufficiency syndrome","nephrotic syndrome 14"],[13836,"Familial steroid-resistant nephrotic syndrome with sensorineural deafness","Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss"],[8101,"Familial supernumerary nipples","Isolated polythelia"],[18257,"Familial syringomyelia"],[5115,"Familial temporal lobe epilepsy","temporal lobe epilepsy"],[19625,"Familial thoracic aortic aneurysm and aortic dissection"],[19111,"Familial thrombocytosis","Familial thrombocythemia","Hereditary thrombocythemia"],[18047,"Familial thrombomodulin anomalies"],[8565,"Familial thyroglossal duct cyst"],[10132,"Familial thyroid dyshormonogenesis","Thyroid dyshormonogenesis"],[18891,"Familial tumoral calcinosis"],[17329,"Familial vesicoureteral reflux","Familial VUR"],[16829,"Familial visceral myopathy","Familial hollow visceral myopathy","Hereditary hollow visceral myopathy","Megaduodenum and/or megacystis"],[19391,"Fanconi anemia","Fanconi pancytopenia"],[9216,"Fanconi-Bickel syndrome","GSD due to GLUT2 deficiency","Glycogen storage disease due to GLUT2 deficiency","Glycogenosis due to GLUT2 deficiency"],[9218,"Farber disease","Acid ceramidase deficiency","Farber lipogranulomatosis"],[1971,"farmer's lung disease"],[4668,"fascioliasis"],[4672,"Fasciolopsiasis"],[15632,"FASTKD2-related infantile mitochondrial encephalomyopathy"],[1101,"fat necrosis of breast"],[9867,"Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease","Fatal congenital hypertrophic cardiomyopathy due to glycogenosis","Fatal congenital hypertrophic cardiomyopathy due to GSD","lethal congenital glycogen storage disease of heart"],[10808,"Fatal familial insomnia","FFI"],[15487,"Fatal infantile cytochrome C oxidase deficiency","Fatal infantile COX deficiency","Fatal infantile cardioencephalomyopathy due to cytochrome C oxidase deficiency","fatal infantile encephalocardiomyopathy"],[13472,"Fatal infantile hypertonic myofibrillar myopathy"],[9504,"Fatal infantile lactic acidosis with methylmalonic aciduria","mitochondrial DNA depletion syndrome 9"],[12512,"Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3","Fatal mitochondrial disease due to COXPD3"],[18316,"Fatal post-viral neurodegenerative disorder"],[16641,"FATCO syndrome","limb transversal defect-cardiac anomaly syndrome"],[17999,"Fatty acid hydroxylase-associated neurodegeneration","FAHN"],[14510,"Fatty acyl-CoA reductase 1 deficiency","FAR1 deficiency","PFCRD","Peroxisomal fatty acyl-CoA reductase 1 disorder"],[18443,"FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome"],[15584,"Febrile infection-related epilepsy syndrome","DESC syndrome","Devastating epileptic encephalopathy in school-aged children","FIRES","Fever-induced refractory epileptic encephalopathy in school-aged children","AERRPS","Acute encephalitis with refractory repetitive partial seizures","Acute non-herpetic encephalitis with severe refractory status epilepticus"],[15267,"Feingold syndrome","Brunner-Winter syndrome","Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum","FGLDS","FS","MMT","MODED syndrome","Microcephaly-digital anomalies-normal intelligence syndrome","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome","ODED syndrome","Oculo-digito-esophageal-duodenal syndrome"],[8115,"Feingold syndrome type 1","Brunner-Winter syndrome type 1","Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1","FGLDS1","FS1","MMT type 1","MODED syndrome type 1","Microcephaly-digital anomalies-normal intelligence syndrome type 1","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 1","Microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1","ODED syndrome type 1","Oculo-digito-esophageal-duodenal syndrome type 1"],[13691,"Feingold syndrome type 2","Brachydactyly-short stature-microcephaly syndrome","Brunner-Winter syndrome type 2","FGLDS2","FS2","MMT type 2","Microcephaly-digital anomalies-normal intelligence syndrome type 2","Microcephaly-intellectual disability-tracheoesophageal fistula syndrome type 2"],[7603,"Felty syndrome","Splenomegaly-neutropenia-rheumatoid arthritis syndrome"],[4255,"Female adnexal tumor of probable Wolffian origin","FATWO","Wolffian adnexal tumor"],[2069,"female breast axillary tail cancer"],[2068,"female breast lower-inner quadrant cancer"],[2067,"female breast upper-inner quadrant cancer"],[21124,"female infertility"],[44626,"Female infertility due to oocyte meiotic arrest"],[14342,"Female infertility due to zona pellucida defect"],[1753,"female infertility of uterine origin"],[4258,"female orgasmic disorder"],[1416,"female reproductive organ cancer"],[1481,"femoral vein thrombophlebitis"],[7604,"Femoral-facial syndrome","FFS","FHUFS","Femoral hypoplasia-unusual facies syndrome"],[9221,"Femur-fibula-ulna complex","FFU complex","Femur-fibula-ulna dysostosis","Femur-fibula-ulna syndrome"],[18346,"Ferro-cerebro-cutaneous syndrome","Cerebro-cutaneous syndrome with iron overload"],[100101,"Fetal akinesia deformation sequence","fetal akinesia deformation sequence 1"],[14149,"Fetal akinesia-cerebral and retinal hemorrhage syndrome","LCCS5","Lethal congenital contracture syndrome type 5"],[16011,"Fetal alcohol syndrome","ARND","Alcohol-related birth defects","Alcohol-related neurodevelopmental disorder","FAS","FASD","Fetal alcohol spectrum disorders","ARBD"],[19415,"Fetal and neonatal alloimmune thrombocytopenia","FNAIT","NAIT"],[18263,"Fetal carbamazepine syndrome"],[17409,"Fetal cytomegalovirus syndrome","Antenatal CMV infection","Antenatal cytomegalovirus infection","Mother-to-child transmission of cytomegalovirus syndrome"],[13334,"Fetal encasement syndrome","cocoon syndrome"],[11945,"Fetal Gaucher disease","Perinatal lethal Gaucher disease","Gaucher disease perinatal lethal"],[16008,"Fetal hydantoin syndrome","Fetal dihydantoin syndrome","Phenytoin embryofetopathy"],[9224,"Fetal iodine syndrome"],[17289,"Fetal lung interstitial tumor","FLIT","Immature interstitial mesenchymal tumor"],[16013,"Fetal methylmercury syndrome","Congenital Minamata disease","Fetal methylmercury poisoning","Intrauterine methylmercury poisoning","Prenatal methylmercury poisoning"],[16014,"Fetal minoxidil syndrome","Minoxidil antenatal exposure"],[17453,"Fetal parvovirus syndrome","Mother-to-child transmission of parvovirus syndrome","Parvovirus antenatal infection"],[16009,"Fetal trimethadione syndrome"],[12275,"Fetal valproate spectrum disorder","Fetal valproate syndrome","Fetal valproic acid syndrome","Valproic acid embryopathy"],[1504,"fetishistic disorder"],[23,"Fever-associated acute infantile liver failure syndrome","infantile liver failure"],[10590,"FG syndrome type 1","Opitz-Kaveggia syndrome","FG syndrome 1"],[13815,"FGFR2-related bent bone dysplasia","Perinatal lethal bent bone dysplasia","bent bone dysplasia syndrome 1"],[16688,"Fibrillary astrocytoma"],[18783,"Fibroblastic rheumatism"],[16068,"Fibrochondrogenesis"],[7606,"Fibrodysplasia ossificans progressiva","FOP","Myositis ossificans progressiva","Stone man syndrome"],[35312,"Fibrohistiocytic inflammatory pseudotumor of the liver"],[6210,"Fibrolamellar hepatocellular carcinoma","FHCC","Fibrolamellar hepatocarcinoma"],[6761,"Fibromuscular dysplasia","FMD"],[981001,"Fibromuscular dysplasia of the arteries of the extremities","Extremity fibromuscular dysplasia","Fibromuscular dysplasia of the arteries of the limbs","Limb fibromuscular dysplasia"],[980997,"Fibromuscular dysplasia of the cervical and intracranial arteries","Cephalocervical FMD","Cerebrovascular FMD","Cerebrovascular fibromuscular dysplasia"],[980999,"Fibromuscular dysplasia of the coronary arteries","Epicardial coronary artery fibromuscular dysplasia"],[980998,"Fibromuscular dysplasia of the renal arteries","Renal FMD","Renal artery fibromuscular dysplasia"],[981000,"Fibromuscular dysplasia of the visceral arteries","Visceral fibromuscular dysplasia"],[5546,"fibromyalgia"],[7671,"Fibronectin glomerulopathy","GFND","Glomerulopathy with fibronectin deposits"],[5164,"Fibrosarcoma"],[9230,"fibrosclerosis, multifocal"],[32651,"Fibrosis-neurodegeneration-cerebral angiomatosis syndrome","FINCA","Interstitial lung fibrosis-neurodegeneration-cerebral angiomatosis syndrome","fibrosis, neurodegeneration, and cerebral angiomatosis"],[845,"Fibrous dysplasia of bone","fibrous dysplasia"],[9231,"Fibular aplasia-complex brachydactyly syndrome","Du Pan syndrome","acromesomelic dysplasia 2B"],[7225,"Fibular aplasia-ectrodactyly syndrome"],[15773,"Fibular dimelia-diplopodia syndrome","Leg duplication-mirror foot syndrome"],[9233,"Fibulo-ulnar hypoplasia-renal anomalies syndrome","Saito-Kuba-Tsuruta syndrome"],[1113,"Fiedler's myocarditis"],[3082,"filamentary keratitis"],[16075,"Filariasis"],[10092,"Filippi syndrome","Type 1 syndactyly-microcephaly-intellectual disability syndrome"],[18249,"Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome","finger hyperphalangy - toe anomalies - severe pectus excavatum syndrome"],[10591,"Fingerprint body myopathy"],[15376,"First branchial cleft anomaly","First branchial cleft cyst","First branchial cleft fistula"],[466,"first-degree atrioventricular block"],[7620,"Fish-eye disease","FED","Partial LCAT deficiency","fish eye disease"],[7655,"fissured tongue"],[17395,"Fixed drug eruption","fixed pigmented erythema"],[17727,"Fixed subaortic stenosis"],[11787,"FKRP-related limb-girdle muscular dystrophy R9","Autosomal recessive limb-girdle muscular dystrophy type 2I","FKRP-related LGMD R9","LGMD due to FKRP deficiency","LGMD type 2I","LGMD2I","Limb-girdle muscular dystrophy due to FKRP deficiency","Limb-girdle muscular dystrophy type 2I"],[8421,"Flat face-microstomia-ear anomaly syndrome","Blepharophimosis-telecanthus-microstomia syndrome","Simosa craniofacial syndrome","Simosa-Penchaszadeh-Bustos syndrome"],[7376,"Fleck corneal dystrophy","FCD","François-Neetens speckled corneal dystrophy"],[10753,"FLNA-related X-linked myxomatous valvular dysplasia","FLNA-related valvular dystrophy","Filamin A-related X-linked myxomatous valvular dysplasia","cardiac valvular dysplasia, X-linked"],[13550,"FLNC-related handgrip and calf weakness-distal myopathy","Distal ABD-filaminopathy","distal myopathy with posterior leg and anterior hand involvement"],[7621,"Floating-Harbor syndrome"],[19368,"Florid cemento-osseous dysplasia","Florid osseous dysplasia","Focal cemento-osseous dysplasia"],[16083,"FLOTCH syndrome","Leukonychia totalis-trichilemmal cysts-ciliary dystrophy syndrome"],[7624,"Flynn-Aird syndrome"],[17677,"Focal acral hyperkeratosis","PPKP3 without elastoidosis","PPPK3 without elastoidosis","Punctate palmoplantar hyperkeratosis type 3 without elastoidosis","Punctate palmoplantar keratoderma type 3 without elastoidosis"],[2164,"focal chorioretinitis"],[10592,"Focal dermal hypoplasia","Goltz syndrome","Goltz-Gorlin syndrome"],[18125,"Focal epilepsy-intellectual disability-cerebro-cerebellar malformation","Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome"],[18363,"Focal facial dermal dysplasia","FFDD"],[7627,"Focal facial dermal dysplasia type I","Bitemporal aplasia cutis congenita","Brauer syndrome","FFDD type I","FFDD1","Focal facial dermal dysplasia 1, Brauer type","Focal facial dermal dysplasia type 1"],[13996,"Focal facial dermal dysplasia type II","FFDD type II","FFDD2","Focal facial dermal dysplasia 2, Brauer-Setleis type"],[9203,"Focal facial dermal dysplasia type III","FFDD type III","FFDD3","Focal facial dermal dysplasia 3, Setleis type","Setleis syndrome"],[13997,"Focal facial dermal dysplasia type IV","FFDD type IV","FFDD4","Focal facial dermal dysplasia 4","Focal facial preauricular dysplasia"],[18845,"Focal myositis","Focal nodular myositis","Inflammatory pseudotumor of skeletal muscle"],[7860,"Focal palmoplantar and gingival keratoderma","Focal palmoplantar and gingival hyperkeratosis"],[18252,"Focal palmoplantar keratoderma with joint keratoses"],[18629,"Focal stiff limb syndrome","Focal stiff-person syndrome","Stiff leg syndrome"],[23171,"Foix-Chavany-Marie syndrome","Bilateral anterior opercular syndrome","Facio-pharyngo-glossal diplegia with automatic-voluntary movement dissociation","Facio-pharyngo-glosso-masticatory diplegia","foix chavany Marie syndrome"],[1860,"folic acid deficiency anemia"],[19197,"Folinic acid-responsive seizures"],[17589,"Follicular cholangitis and pancreatitis","Follicular pancreatocholangitis"],[5764,"Follicular dendritic cell sarcoma"],[18906,"Follicular lymphoma"],[15808,"Folliculotropic mycosis fungoides","Mycosis fungoides-associated follicular mucinosis"],[100008,"food protein-induced enterocolitis syndrome"],[16453,"Foodborne botulism","Intoxication botulism"],[9240,"Formiminoglutamic aciduria","FTCD deficiency","Formiminotransferase cyclodeaminase deficiency","Glutamate formiminotransferase deficiency"],[1998,"Foster-Kennedy syndrome"],[9241,"Fountain syndrome","Deafness-skeletal dysplasia-coarse face with full lips syndrome","Deafness-skeletal dysplasia-lip granuloma syndrome","Hearing loss-skeletal dysplasia-coarse face with full lips syndrome","Hearing loss-skeletal dysplasia-lip granuloma syndrome"],[43352,"fournier gangrene"],[15378,"Fourth branchial cleft anomaly","Fourth branchial cleft cyst","Fourth branchial cleft fistula"],[12216,"Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome","FHONDA syndrome","foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome"],[16395,"Foveal hypoplasia-presenile cataract syndrome","O'Donnell-Pappas syndrome"],[17200,"Fowler urethral sphincter dysfunction syndrome","Fowler syndrome","Fowler-Christmas-Chapple syndrome","polycystic ovaries-urethral sphincter dysfunction syndrome"],[9168,"Fowler vasculopathy","Cerebral proliferative glomeruloid vasculopathy","Encephaloclastic proliferative vasculopathy","Hydrocephaly/hydranencephaly due to cerebral vasculopathy","Proliferative vasculopathy and hydranencephaly/hydrocephaly","Fowler syndrome"],[6553,"Fox-Fordyce disease"],[100040,"FOXG1 syndrome","FOXG1-related epileptic-dyskinetic encephalopathy","FOXG1 disorder"],[16833,"FOXG1 syndrome due to 14q12 microdeletion","Del(14)(q12)","Monosomy 14q12","14q12 microdeletion syndrome"],[13352,"FOXP1 Syndrome","FOXP1-retaled intellectual disability-severe speech delay-mild dysmorphism syndrome","intellectual disability-severe speech delay-mild dysmorphism syndrome"],[10383,"Fragile X syndrome"],[10706,"Fragile X-associated primary ovarian insufficiency","FXPOI","Fragile X-associated POF","Fragile X-associated POI","Fragile X-associated premature ovarian failure","POF associated with fragile X premutation","POI associated with fragile X premutation","Premature ovarian failure associated with fragile X premutation","Primary ovarian insufficiency associated with fragile X premutation","premature ovarian failure 1"],[10382,"Fragile X-associated tremor/ataxia syndrome","FXTAS syndrome"],[9579,"Frank-Ter Haar syndrome","Ter Haar syndrome"],[9046,"Fraser syndrome"],[7635,"Frasier syndrome"],[10659,"FRAXE intellectual disability","Intellectual disability associated with fragile site FRAXE"],[15084,"FRAXF syndrome"],[19366,"Free sialic acid storage disease","FSASD","Free sialic acid storage disorder"],[10027,"Free sialic acid storage disease, infantile form","ISSD"],[8675,"Freeman-Sheldon syndrome","Craniocarpotarsal dysplasia","Craniocarpotarsal dystrophy","Distal arthrogryposis type 2A","Freeman-Burian syndrome","Whistling face syndrome"],[7753,"Frey syndrome","Auriculo-temporal syndrome","Auriculotemporal syndrome","Baillarger syndrome","Dupuy syndrome","Gustatory hyperhidrosis"],[19428,"Fried syndrome"],[11219,"Fried's tooth and nail syndrome"],[100339,"Friedreich ataxia","FA","FRDA"],[16020,"Frontal encephalocele","Anterior encephalocele"],[16776,"Frontal fibrosing alopecia","FFA"],[1756,"frontal sinus cancer"],[9247,"Frontofacionasal dysplasia","Gollop syndrome"],[15942,"Frontometaphyseal dysplasia"],[13268,"Frontonasal dysplasia-alopecia-genital anomalies syndrome","ALX4-related FNDAG","Craniofrontonasal dysplasia with alopecia and hypogonadism","Frontonasal dysplasia type 2","Frontonasal dysplasia with alopecia and genital abnomality","frontonasal dysplasia with alopecia and genital anomaly"],[35018,"Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome"],[13271,"Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome","ALX1-related frontonasal dysplasia","Frontonasal dysplasia type 3","frontonasal dysplasia - severe microphthalmia - severe facial clefting syndrome"],[7636,"Frontorhiny","ALX3-related frontonasal dysplasia","Frontonasal dysplasia type 1","Isolated median cleft face syndrome"],[17276,"frontotemporal dementia"],[17161,"Frontotemporal dementia with motor neuron disease","FTD-ALS","FTD-MND","Frontotemporal dementia with amyotrophic lateral sclerosis"],[800177,"frostbite"],[6763,"frozen shoulder"],[9251,"Fructose-1,6-bisphosphatase deficiency","FBPase deficiency","Fructose-1,6-diphosphatase deficiency"],[9253,"Fryns syndrome","Diaphragmatic hernia-facial dysmorphism-distal limb anomalies syndrome"],[23201,"Fryns-Smeets-Thiry syndrome","Fryns Smeets Thiry syndrome"],[14225,"FTH1-related iron overload","FTH1-associated iron overload","hemochromatosis type 5"],[5321,"Fuchs endothelial corneal dystrophy","Endoepithelial corneal dystrophy","FECD","Late hereditary endothelial dystrophy","Fuchs' endothelial dystrophy"],[16989,"Fuchs heterochromic iridocyclitis","FHI"],[9254,"Fucosidosis","Alpha-L-fucosidase deficiency"],[9232,"Fuhrmann syndrome","Fibular hypoplasia or aplasia-femoral bowing-oligodactyly syndrome","Fuhrmann-Rieger-de Sousa syndrome"],[12699,"Fukutin-related limb-girdle muscular dystrophy R13","Autosomal recessive LGMD type 2M","Autosomal recessive limb-girdle muscular dystrophy type 2M","Fukutin-related LGMD R13","LGMD type 2M","LGMD2M"],[7039,"Full NF2-related schwannomatosis","Full NF2","Full neurofibromatosis type 2","Nonmosaic NF2-related schwannomatosis","Nonmosaic neurofibromatosis type 2","NF2-related schwannomatosis"],[8075,"Full schwannomatosis","Full NF3","Full SWN","Full neurofibromatosis type 3","Neurilemmomatosis","Nonmosaic schwannomatosis","schwannomatosis"],[18109,"Fulminant viral hepatitis"],[11730,"Fumaric aciduria","Fumarase deficiency"],[1272,"functional diarrhea"],[19612,"Functioning gonadotropic adenoma","Functioning pituitary gonadotropic adenoma","Gonadotroph adenoma"],[7639,"Fundus albipunctatus"],[20383,"Fundus pulverulentus"],[2041,"fungal infectious disease"],[33821,"Fungal keratitis","Keratomycosis","Mycotic keratitis"],[16130,"Fungal myositis"],[18941,"Furuncular myiasis","Furunculoid myiasis","Furunculous myiasis"],[35407,"Furuncular myiasis due to Cordylobia anthropophaga","Furunculoid myiasis due to Cordylobia anthropophaga","Furunculous myiasis due to Cordylobia anthropophaga"],[35408,"Furuncular myiasis due to Cordylobia rodhaini","Furunculoid myiasis due to Cordylobia rodhaini","Furunculous myiasis due to Cordylobia rodhaini"],[35406,"Furuncular myiasis due to Dermatobia hominis","Furunculoid myiasis due to Dermatobia hominis","Furunculous myiasis due to Dermatobia hominis"],[16426,"Fusariosis","Fusarium infection"],[7820,"Fused mandibular incisors"],[44738,"Gabriele-de Vries syndrome","YY1 haploinsufficiency syndrome","Gabriele de Vries syndrome"],[9255,"Galactokinase deficiency","GALK deficiency","GALK deficiency galactosemia","Galactokinase deficiency galactosemia","Galactosemia type II","Type 2 galactosemia","Type II galactosemia","Galactosemia type 2"],[9257,"Galactose epimerase deficiency","GALE deficiency","GALE deficiency galactosemia","Galactose epimerase deficiency galactosemia","Galactosemia type 3","Galactosemia type III","Type 3 galactosemia","Type III galactosemia","UDP-galactose-4-epimerase deficiency","Uridine diphosphate galactose-4-epimerase deficiency"],[30105,"Galactose mutarotase deficiency","Galactosemia type IV","Type 4 galactosemia","Type IV galactosemia","GALM deficiency","GALM deficiency galactosemia","Galactose mutarotase deficiency galactosemia","Galactosemia type 4","galactosemia 4"],[18116,"galactosemia"],[9737,"Galactosialidosis","Goldberg syndrome","Neuraminidase deficiency with beta-galactosidase deficiency"],[5411,"gallbladder cancer"],[5281,"gallbladder disorder"],[15073,"Gallbladder neuroendocrine tumor","gallbladder neuroendocrine tumor, grade 1/2"],[9627,"Galloway-Mowat syndrome","Galloway syndrome","Microcephaly-hiatus hernia-nephrotic syndrome","Nephrosis-neuronal dysmigration syndrome"],[13166,"Gamma-aminobutyric acid transaminase deficiency","GABA transaminase deficiency","GABA aminotransaminase deficiency"],[9285,"Gamma-glutamyl transpeptidase deficiency","Gamma-glutamyl transferase deficiency","Glutathionuria"],[15046,"Gamma-heavy chain disease","Franklin disease","Gamma-HCD"],[9677,"Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5","Autosomal recessive limb-girdle muscular dystrophy type 2C","Gamma-sarcoglycan-related LGMD R5","Gamma-sarcoglycanopathy","LGMD due to gamma-sarcoglycan deficiency","LGMD type 2C","LGMD2C","Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency","Limb-girdle muscular dystrophy type 2C"],[16730,"Gangliocytoma"],[16733,"Ganglioglioma"],[5035,"Ganglioneuroblastoma"],[5033,"Ganglioneuroma"],[9263,"GAPO syndrome","Growth delay-alopecia-pseudoanodontia-optic atrophy syndrome"],[5767,"gas gangrene"],[17790,"Gastric adenocarcinoma and proximal polyposis of the stomach","Familial fundic gland polyposis with gastric cancer","GAPPS"],[1056,"gastric cancer"],[100190,"gastric intestinal metaplasia"],[18184,"Gastric linitis plastica","Borrmann gastric cancer type 4","Linitis plastica of the stomach"],[1126,"gastric ulcer"],[7651,"Gastrocutaneous syndrome"],[1701,"gastrointestinal anthrax"],[11719,"Gastrointestinal stromal tumor","GIST","Gastrointestinal stromal sarcoma"],[1916,"gastrointestinal tularemia"],[1155,"gastrojejunal ulcer"],[6769,"gastroparesis"],[9264,"Gastroschisis","Laparoschisis"],[13607,"GATA2 deficiency spectrum","GATA binding protein 2 deficiency spectrum","monocytopenia with susceptibility to infections"],[18150,"Gaucher disease","Acid beta-glucosidase deficiency","Glucocerebrosidase deficiency"],[9265,"Gaucher disease type 1","Non-cerebral juvenile Gaucher disease","Gaucher disease type I"],[9266,"Gaucher disease type 2","Acute neuronopathic Gaucher disease","Infantile cerebral Gaucher disease","Gaucher disease type II"],[9267,"Gaucher disease type 3","Cerebral juvenile and adult form of Gaucher disease","Chronic neuronopathic Gaucher disease","Gaucher disease, subacute neuronopathic type","Gaucher disease type III"],[9268,"Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome","Cardiovascular Gaucher disease","Gaucher disease type 3C","Gaucher-like disease"],[18582,"GCGR-related hyperglucagonemia","Mahvash disease"],[19484,"Gelastic seizures with hypothalamic hamartoma","GS-HH","Hypothalamic hamartoma with gelastic seizures","hypothalamic hamartomas with gelastic seizures"],[8777,"Gelatinous drop-like corneal dystrophy","GDCD","Primary familial amyloidosis of the cornea","Subepithelial amyloidosis of the cornea"],[127,"Geleophysic dysplasia","Geleophysic dwarfism"],[16159,"Gemignani syndrome","Spinocerebellar ataxia-amyotrophy-deafness syndrome","Spinocerebellar ataxia-amyotrophy-hearing loss syndrome"],[16689,"Gemistocytic astrocytoma"],[1942,"generalized anxiety disorder"],[18870,"Generalized arterial calcification of infancy","Idiopathic infantile arterial calcification","Idiopathic obliterative arteriopathy","Infantile arteriosclerosis","Occlusive infantile arteriopathy","arterial calcification of infancy"],[2275,"generalized atherosclerosis"],[11605,"Generalized basaloid follicular hamartoma syndrome"],[12276,"Generalized epilepsy-paroxysmal dyskinesia syndrome","GEPD"],[15532,"Generalized eruptive histiocytosis","Generalized eruptive histiocytoma"],[18471,"Generalized eruptive keratoacanthoma","GEKA","Generalized eruptive keratoacanthomas of Grzybowski","Grzybowski syndrome"],[8534,"Generalized essential telangiectasia","GET"],[17692,"Generalized galactose epimerase deficiency","Generalized GALE deficiency","Generalized GALE-D","Generalized UDP-galactose-4-epimerase deficiency","Generalized epimerase deficiency galactosemia","Generalized uridine diphosphate galactose-4-epimerase deficiency"],[14421,"Generalized glucocorticoid resistance syndrome","glucocorticoid resistance"],[8276,"Generalized juvenile polyposis/juvenile polyposis coli"],[15408,"Generalized lymphatic anomaly","Diffuse lymphangioma","Diffuse lymphangiomatosis","Disseminated lymphangioma","Disseminated lymphangiomatosis","Disseminated lymphatic malformation","GLA","Diffuse lymphatic malformation"],[10033,"Generalized peeling skin syndrome","Generalized deciduous skin","Generalized PSS"],[9917,"Generalized pseudohypoaldosteronism type 1","Autosomal recessive PHA1","Autosomal recessive pseudohypoaldosteronism type 1","Generalized PHA1","pseudohypoaldosteronism, type IB1, autosomal recessive"],[100491,"Generalized pustular psoriasis","GPP"],[958354,"Genetic central precocious puberty in female","Genetic CPP in female","Genetic CPP in girl","Genetic central precocious puberty in girl"],[968990,"Genetic central precocious puberty in male","Genetic CPP in boy","Genetic CPP in male","Genetic central precocious puberty in boy"],[18214,"Genetic epilepsy with febrile seizure plus","GEFS+","Generalized epilepsy with febrile seizures plus"],[16788,"Genetic hyperferritinemia without iron overload","Benign hyperferritinemia","obsolete genetic hyperferritinemia without iron overload"],[20075,"Genetic non-syndromic obesity","Monogenic obesity due to a leptin-melanocortin pathway anomaly","obsolete hereditary non-syndromic obesity"],[20504,"Genetic recurrent myoglobinuria","hereditary recurrent myoglobinuria"],[11792,"Genetic transient congenital hypothyroidism","thyroid dyshormonogenesis 6"],[1873,"geniculate ganglionitis"],[9270,"Genitopalatocardiac syndrome","Gardner-Silengo-Wachtel syndrome","genito-palato-cardiac syndrome"],[11640,"Genitopatellar syndrome","Absent patellae-scrotal hypoplasia-renal anomalies-facial dysmorphism-intellectual disability syndrome"],[19411,"Genochondromatosis type 1"],[19680,"Genochondromatosis type 2"],[5771,"geographic tongue"],[5772,"geotrichosis"],[9272,"German syndrome","Hypotonia-arthrogryposis-facial dysmorphism-lymphedema syndrome"],[4216,"Germinoma of the central nervous system","pineal region germinoma"],[9271,"Geroderma osteodysplastica","geroderma osteodysplasticum"],[5773,"Gerstmann syndrome"],[7656,"Gerstmann-Straussler-Scheinker syndrome","Subacute spongiform encephalopathy, Gerstmann-Straussler type"],[20550,"Gestational choriocarcinoma"],[5406,"gestational diabetes"],[9274,"Ghosal hematodiaphyseal dysplasia","Ghosal syndrome","Diaphyseal dysplasia-anemia syndrome"],[1061001,"Gianotti-Crosti syndrome"],[4150,"Giant adenofibroma of the breast","breast giant fibroadenoma"],[9749,"Giant axonal neuropathy","GAN","giant axonal neuropathy 1"],[8538,"Giant cell arteritis","Horton disease","Temporal arteritis"],[16682,"Giant cell glioblastoma"],[5674,"Giant cell tumor of bone","GCT of bone","Osteoclastoma","bone giant cell tumor"],[1103,"giardiasis"],[7745,"Gilbert syndrome"],[5507,"gingival cancer"],[32886,"Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome","Liang-Wang syndrome"],[9228,"Gingival fibromatosis-facial dysmorphism syndrome"],[7610,"Gingival fibromatosis-hypertrichosis syndrome","CGHT","Congenital generalized hypertrichosis terminalis","Hirsutism-congenital gingival hyperplasia syndrome","Hypertrichosis with or without gingival hyperplasia"],[7612,"Gingival fibromatosis-progressive deafness syndrome","Gingival fibromatosis-progressive hearing loss syndrome","Jones syndrome"],[2507,"gingival overgrowth"],[1268,"gingival recession"],[9904,"Gitelman syndrome"],[850089,"Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation","Gitelman-like kidney tubulopathy due to mtDNA mutation"],[35472,"GJC2-related late-onset primary lymphedema"],[5774,"Glanders","Burkholderia mallei infection","Equinia","Malleus"],[1388,"glans penis cancer"],[100326,"Glanzmann thrombasthenia"],[4542,"Glassy cell carcinoma of the cervix uteri","cervical adenosquamous carcinoma, glassy cell variant"],[5041,"glaucoma"],[16559,"Glaucoma secondary to spherophakia/ectopia lentis and megalocornea","Megalocornea-spherophakia-secondary glaucoma syndrome"],[12013,"Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome","GEMSS syndrome","Weill-Marchesani syndrome 2, dominant"],[7666,"Glaucoma-sleep apnea syndrome"],[4772,"Glaucomatocyclitic crisis disease","Posner-Schlossman syndrome","glaucomatocyclitic crisis"],[18177,"Glioblastoma"],[17105,"Glioependymal/ependymal cyst"],[16683,"Gliomatosis cerebri"],[16681,"Gliosarcoma"],[33642,"Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome","Bachmann-Bupp syndrome","Ornithine decarboxylase deficiency","neurodevelopmental disorder with alopecia and brain abnormalities"],[859298,"Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome","TMEM147-related neurodevelopmental disorder","neurodevelopmental disorder with facial dysmorphism, absent language, and pseudo-pelger-huet anomaly"],[18445,"Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome","GLOW syndrome","global developmental delay - lung cysts - overgrowth - Wilms tumor syndrome"],[14855,"Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome","intellectual disability, autosomal dominant 42"],[19129,"Global developmental delay-osteopenia-ectodermal defect syndrome"],[18822,"Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome"],[19722,"glomerular disorder"],[18327,"Glomus tumor"],[7672,"Glomuvenous malformation","Glomangiomatosis","Hereditary multiple glomangiomas","Multiple glomus tumors","VMGLOM","Venous malformations with glomus cells"],[6771,"glossitis"],[43237,"glossodynia"],[15399,"Glossopalatine ankylosis","Cosack syndrome"],[16372,"Glossopharyngeal neuralgia"],[2351,"glottis cancer"],[19959,"Glucagonoma","Glucagonoma syndrome"],[11731,"Glucose-galactose malabsorption","CGGM","Congenital glucose-galactose malabsorption","GGM","SGLT1 deficiency"],[188,"GLUT1 deficiency syndrome"],[9259,"Glutamate-cysteine ligase deficiency","Gamma-glutamylcysteine synthetase deficiency"],[9283,"Glutaric acidemia type 3","Glutaric aciduria type 3","Glutaryl-CoA oxidase deficiency"],[9281,"Glutaryl-CoA dehydrogenase deficiency","GA1","GCDHD","Glutaric acidemia type 1","Glutaric aciduria type 1","Glutaryl-coenzyme A dehydrogenase deficiency"],[17909,"Glutathione synthetase deficiency","Pyroglutamicaciduria","inherited glutathione synthetase deficiency"],[9947,"Glutathione synthetase deficiency with 5-oxoprolinuria"],[9284,"Glutathione synthetase deficiency without 5-oxoprolinuria"],[17296,"Glycerol kinase deficiency, adult form"],[17295,"Glycerol kinase deficiency, juvenile form"],[11612,"Glycine encephalopathy","NKA","Non-ketotic hyperglycinemia"],[2412,"Glycogen storage disease","GSD","Glycogenosis","disorder of glycogen metabolism"],[9290,"Glycogen storage disease due to acid maltase deficiency","Alpha-1,4-glucosidase acid deficiency","GSD due to acid maltase deficiency","GSD type 2","GSD type II","Glycogen storage disease type 2","Glycogen storage disease type II","Glycogenosis due to acid maltase deficiency","Glycogenosis type 2","Glycogenosis type II","Pompe disease","glycogen storage disease II"],[17694,"Glycogen storage disease due to acid maltase deficiency, infantile onset","Alpha-1,4-glucosidase acid deficiency, infantile onset","GSD due to acid maltase deficiency, infantile onset","GSD type 2, infantile onset","GSD type II, infantile onset","Glycogen storage disease type 2, infantile onset","Glycogen storage disease type II, infantile onset","Glycogenosis due to acid maltase deficiency, infantile onset","Glycogenosis type 2, infantile onset","Glycogenosis type II, infantile onset","Pompe disease, infantile onset"],[18485,"Glycogen storage disease due to acid maltase deficiency, late-onset","Alpha-1,4-glucosidase acid deficiency, late-onset","GSD due to acid maltase deficiency, late-onset","GSD type 2, late-onset","GSD type II, late-onset","Glycogen storage disease type 2, late-onset","Glycogen storage disease type II, late-onset","Glycogenosis type 2, late-onset","Glycogenosis type II, late-onset","Pompe disease, late-onset"],[12747,"Glycogen storage disease due to aldolase A deficiency","GSD due to aldolase A deficiency","GSD type 12","GSD type XII","Glycogen storage disease type 12","Glycogen storage disease type XII","Glycogenosis due to aldolase A deficiency","Glycogenosis type 12","Glycogenosis type XII"],[2413,"Glycogen storage disease due to glucose-6-phosphatase deficiency","G6P deficiency","GSD due to G6P deficiency","GSD type 1","GSD type I","Glycogen storage disease due to G6P deficiency","Glycogen storage disease type 1","Glycogen storage disease type I","Glycogenosis type 1","Glycogenosis type I","Hepatorenal glycogenosis","Von Gierke disease","glycogen storage disease I"],[9287,"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia","G6P deficiency type 1a","GSD due to G6P deficiency type 1a","GSD due to G6P deficiency type Ia","GSD type 1a","GSDIa","Glycogen storage disease due to G6P deficiency type Ia","Glycogen storage disease type 1a","Glycogenosis due to glucose-6-phosphatase deficiency type 1a","Glycogenosis due to glucose-6-phosphatase deficiency type Ia","Glycogenosis type Ia"],[9288,"Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib","G6P deficiency type Ib","G6P translocase deficiency","G6PT deficiency","GSD due to G6P deficiency type 1b","GSD due to G6P deficiency type Ib","GSD due to G6PT deficiency","GSD type 1 non a","GSD type 1b","GSD type Ib","GSDIb","Glycogen storage disease due to G6P deficiency type Ib","Glycogen storage disease type 1b","Glycogen storage disease type Ib","Glycogenosis due to glucose-6-phosphatase deficiency type 1b","Glycogenosis due to glucose-6-phosphatase transport defect type Ib","Glycogenosis type 1b","Glycogenosis type Ib","glycogen storage disease Ib"],[9292,"Glycogen storage disease due to glycogen branching enzyme deficiency","Amylopectinosis","Andersen disease","GSD due to glycogen branching enzyme deficiency","GSD type 4","GSD type IV","Glycogen storage disease type 4","Glycogen storage disease type IV","Glycogenosis due to glycogen branching enzyme deficiency","Glycogenosis type 4","Glycogenosis type IV"],[17701,"Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form","GBE deficiency, adult neuromuscular form","GSD due to glycogen branching enzyme deficiency, adult neuromuscular form","GSD type 4, adult neuromuscular form","GSDIV, adult neuromuscular form","Glycogen storage disease type 4, adult neuromuscular form","Glycogen storage disease type IV, adult neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, adult neuromuscular form","Glycogenosis type 4, adult neuromuscular form","Glycogenosis type IV, adult neuromuscular form"],[17699,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","Glycogenosis type 4, childhood combined hepatic and myopathic form","Glycogenosis type IV, childhood combined hepatic and myopathic form","GBE deficiency, childhood combined hepatic and myopathic form","GSD due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form","GSD type 4, childhood combined hepatic and myopathic form","GSDIV, childhood combined hepatic and myopathic form","Glycogen storage disease type 4, childhood combined hepatic and myopathic form","Glycogen storage disease type IV, childhood combined hepatic and myopathic form","Glycogenosis due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form"],[17700,"Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form","GBE deficiency, childhood neuromuscular form","GSD due to glycogen branching enzyme deficiency, childhood neuromuscular form","GSD type 4, childhood neuromuscular form","GSDIV, childhood neuromuscular form","Glycogen storage disease type 4, childhood neuromuscular form","Glycogen storage disease type IV, childhood neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, childhood neuromuscular form","Glycogenosis type 4, childhood neuromuscular form","Glycogenosis type IV, childhood neuromuscular form"],[17698,"Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form","GBE deficiency, congenital neuromuscular form","GSD due to glycogen branching enzyme deficiency, congenital neuromuscular form","GSD type 4, congenital neuromuscular form","GSDIV, congenital neuromuscular form","Glycogen storage disease type 4, congenital neuromuscular form","Glycogen storage disease type IV, congenital neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, congenital neuromuscular form","Glycogenosis type 4, congenital neuromuscular form","Glycogenosis type IV, congenital neuromuscular form"],[17697,"Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","GBE deficiency, fatal perinatal neuromuscular form","GSD due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","GSD type 4, fatal perinatal neuromuscular form","GSDIV, fatal perinatal neuromuscular form","Glycogen storage disease type 4, fatal perinatal neuromuscular form","Glycogen storage disease type IV, fatal perinatal neuromuscular form","Glycogenosis due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form","Glycogenosis type 4, fatal perinatal neuromuscular form","Glycogenosis type IV, fatal perinatal neuromuscular form"],[17696,"Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form","GBE deficiency, non progressive hepatic form","GSD due to glycogen branching enzyme deficiency, non progressive hepatic form","GSD type 4, non progressive hepatic form","GSDIV, non progressive hepatic form","Glycogen storage disease type 4, non progressive hepatic form","Glycogen storage disease type IV, non progressive hepatic form","Glycogenosis due to glycogen branching enzyme deficiency, non progressive hepatic form","Glycogenosis type 4, non progressive hepatic form","Glycogenosis type IV, non progressive hepatic form"],[17695,"Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form","GBE deficiency, progressive hepatic form","GSD due to glycogen branching enzyme deficiency, progressive hepatic form","GSD type 4, progressive hepatic form","GSDIV, progressive hepatic form","Glycogen storage disease type 4, progressive hepatic form","Glycogen storage disease type IV, progressive hepatic form","Glycogenosis due to glycogen branching enzyme deficiency, progressive hepatic form","Glycogenosis type 4, progressive hepatic form","Glycogenosis type IV, progressive hepatic form"],[9291,"Glycogen storage disease due to glycogen debranching enzyme deficiency","Amylo-1,6-glucosidase deficiency","Cori disease","Cori-Forbes disease","Forbes disease","GDE deficiency","GSD due to glycogen debranching enzyme deficiency","GSD type 3","GSDIII","Glycogen storage disease type 3","Glycogen storage disease type III","Glycogenosis due to glycogen debranching enzyme deficiency","Glycogenosis type 3","Glycogenosis type III","Limit dextrinosis","glycogen storage disease III"],[9414,"Glycogen storage disease due to hepatic glycogen synthase deficiency","GSD due to hepatic glycogen synthase deficiency","GSD type 0a","Glycogen storage disease due to liver glycogen synthase deficiency","Glycogen storage disease type 0a","Glycogenosis type 0a","glycogen storage disorder due to hepatic glycogen synthase deficiency"],[16527,"Glycogen storage disease due to lactate dehydrogenase deficiency","GSD due to lactate dehydrogenase deficiency","Glycogenosis due to lactate dehydrogenase deficiency","LDH deficiency"],[13587,"Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency","GSD due to lactate dehydrogenase H-subunit deficiency","Glycogenosis due to lactate dehydrogenase H-subunit deficiency","LDH-H subunit deficiency","Lactate dehydrogenase B deficiency"],[13047,"Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency","GSD due to lactate dehydrogenase M-subunit deficiency","Glycogenosis due to lactate dehydrogenase M-subunit deficiency","LDH-M subunit deficiency","Lactate dehydrogenase A deficiency"],[9868,"Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency","GSD due to liver and muscle phosphorylase kinase deficiency","GSD type 9B","GSD type IXb","Glycogen storage disease type 9B","Glycogen storage disease type IXb","Glycogenosis due to liver and muscle phosphorylase kinase deficiency","Glycogenosis type 9B","Glycogenosis type IXb","glycogen storage disease IXb"],[9294,"Glycogen storage disease due to liver glycogen phosphorylase deficiency","GSD due to liver glycogen phosphorylase deficiency","GSD type 6","GSD type VI","Glycogen storage disease type 6","Glycogen storage disease type VI","Glycogenosis due to liver glycogen phosphorylase deficiency","Glycogenosis type 6","Glycogenosis type VI","Hepatic glycogen phosphorylase deficiency","Hepatic phosphorylase deficiency","Hers disease","Liver glycogen phosphorylase deficiency","glycogen storage disease VI"],[20693,"Glycogen storage disease due to liver phosphorylase kinase deficiency","GSD due to liver phosphorylase kinase deficiency","GSD type 9A","GSD type 9C","GSD type IXa","GSD type IXc","Glycogen storage disease type 9A","Glycogen storage disease type 9C","Glycogen storage disease type IXa","Glycogen storage disease type IXc","Glycogenosis due to liver phosphorylase kinase deficiency","Glycogenosis type 9A","Glycogenosis type 9C","Glycogenosis type IXa","Glycogenosis type IXc","XLG"],[12693,"Glycogen storage disease due to muscle and heart glycogen synthase deficiency","GSD due to muscle and heart glycogen synthase deficiency","GSD type 0b","Glycogen storage disease type 0b","Glycogenosis due to muscle and heart glycogen synthase deficiency","Glycogenosis type 0b"],[13046,"Glycogen storage disease due to muscle beta-enolase deficiency","GSD due to muscle beta-enolase deficiency","GSDXIII","Glycogenosis due to muscle beta-enolase deficiency","Glycogenosis type 13","Muscle enolase deficiency","Muscular enolase deficiency"],[9293,"Glycogen storage disease due to muscle glycogen phosphorylase deficiency","GSD due to muscle glycogen phosphorylase deficiency","GSD type 5","GSD type V","Glycogen storage disease type 5","Glycogen storage disease type V","Glycogenosis due to muscle glycogen phosphorylase deficiency","Glycogenosis type 5","Glycogenosis type V","McArdle disease","Myophosphorylase deficiency","glycogen storage disease V"],[9295,"Glycogen storage disease due to muscle phosphofructokinase deficiency","GSD due to muscle phosphofructokinase deficiency","GSD type 7","GSD type VII","Glycogen storage disease type 7","Glycogen storage disease type VII","Glycogenosis due to muscle phosphofructokinase deficiency","Glycogenosis type 7","Glycogenosis type VII","Tarui disease","glycogen storage disease VII"],[10362,"Glycogen storage disease due to muscle phosphorylase kinase deficiency","GSD due to muscle phosphorylase kinase deficiency","GSD type 9D","GSD type 9E","GSD type IXd","GSD type IXe","Glycogen storage disease type 9D","Glycogen storage disease type 9E","Glycogen storage disease type IXd","Glycogen storage disease type IXe","Glycogenosis due to muscle phosphorylase kinase deficiency","Glycogenosis type 9D","Glycogenosis type 9E","Glycogenosis type IXd","Glycogenosis type IXe","glycogen storage disease IXd"],[10392,"Glycogen storage disease due to phosphoglycerate kinase 1 deficiency","GSD due to phosphoglycerate kinase 1 deficiency","Glycogenosis due to phosphoglycerate kinase 1 deficiency"],[9865,"Glycogen storage disease due to phosphoglycerate mutase deficiency","DiMauro disease","GSD due to phosphoglycerate mutase 2 deficiency","GSD type 10","Glycogen storage disease due to PGAM2 deficiency","Glycogen storage disease due to phosphoglycerate mutase 2 deficiency","Glycogen storage disease, type 10","Glycogen storage disease, type X","Glycogenosis due to phosphoglycerate mutase 2 deficiency","Muscle phosphoglycerate mutase deficiency","Myopathy due to phosphoglycerate mutase deficiency","PGAM deficiency","PGAM-M  deficiency"],[13291,"Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency","GSD type 15","GSD type XV","GSD with severe cardiomyopathy due to glycogenin deficiency","Glycogen storage disease type 15","Glycogen storage disease type XV","Glycogenosis type 15","Glycogenosis type XV","Glycogenosis with severe cardiomyopathy due to glycogenin deficiency","glycogen storage disease XV"],[18149,"GM1 gangliosidosis","Beta-galactosidase-1 deficiency","GLB1 deficiency","Landing disease"],[9260,"GM1 gangliosidosis type 1","Infantile GM1 gangliosidosis","Norman-Landing disease"],[9261,"GM1 gangliosidosis type 2","Juvenile GM1 gangliosidosis","Late-infantile GM1 gangliosidosis"],[9262,"GM1 gangliosidosis type 3","Adult-onset GM1 gangliosidosis"],[17720,"GM2 gangliosidosis"],[10099,"GM2 gangliosidosis, AB variant","Hexosaminidase activator deficiency","Tay-Sachs disease AB variant"],[18274,"GM3 synthase deficiency"],[14142,"GMPPB-related limb-girdle muscular dystrophy R19","Autosomal recessive limb-girdle muscular dystrophy type 2T","GMPPB-related LGMD R19","LGMD type 2T","LGMD2T","Limb-girdle muscular dystrophy type 2T"],[7679,"GMS syndrome","Goniodysgenesis-intellectual disability-short stature syndrome"],[60491,"GNAO1-related developmental delay-seizures-movement disorder spectrum","GNAO1-related neurodevelopmental disorder","GNAO1-related spectrum","neurodevelopmental disorder with involuntary movements"],[8151,"Gnathodiaphyseal dysplasia","GDD"],[5776,"gnathomiasis"],[14953,"GNB5-related intellectual disability-cardiac arrhythmia syndrome"],[11603,"GNE myopathy","DMRV","Distal myopathy with rimmed vacuoles","Distal myopathy, Nonaka type","HIBM2","Hereditary inclusion body myopathy type 2","IBM2","Inclusion body myopathy type 2","Nonaka myopathy","Quadriceps-sparing myopathy"],[18017,"Goblet cell carcinoma","GCC","Goblet cell adenocarcinoid","Goblet cell carcinoid","Goblet cell tumor"],[12280,"Goldberg-Shprintzen megacolon syndrome","GOSHS","Megacolon-microcephaly syndrome","Goldberg-Shprintzen syndrome"],[100289,"Goldmann-Favre syndrome","ESCS","Enhanced S-cone syndrome","Retinoschisis with early nyctalopia"],[9222,"Gollop-Wolfgang complex","Bifid femur-monodactylous ectrodactyly syndrome"],[2697,"Gonadoblastoma","ovarian gonadoblastoma"],[15455,"Gonococcal conjunctivitis"],[4774,"gonococcal iridocyclitis"],[4852,"gonococcal keratitis"],[21161,"gonococcal prostatitis"],[7252,"Gordon syndrome","Camptodactyly-cleft palate-clubfoot syndrome","Distal arthrogryposis type 3","Distal arthrogryposis type IIA"],[7414,"Gorham-Stout disease","Gorham disease","Gorham syndrome","Idiopathic massive osteolysis","Progressive massive osteolysis","Vanishing bone disease"],[7187,"Gorlin syndrome","nevoid basal cell carcinoma syndrome"],[12853,"Gorlin-Chaudhry-Moss syndrome","Craniofacial dysostosis-genital, dental, cardiac anomalies syndrome","Cranofacial dysostosis-hypertrichosis-hypoplasia of labia majora syndrome","Dental and eye anomalies-patent ductus arteriosus-normal intelligence syndrome","GCM syndrome","Fontaine progeroid syndrome","Progeroid syndrome, Petty type","Petty syndrome","Petty-Laxova-Wiedemann syndrome"],[5393,"gout"],[11308,"GRACILE syndrome","Fellman disease","Growth restriction-aminoaciduria-cholestasis-iron overload-lactic acidosis-early death syndrome"],[6234,"grade III prostatic intraepithelial neoplasia"],[13730,"Graft versus host disease","GvHD"],[18858,"Graham Little-Piccardi-Lassueur syndrome","Graham Little syndrome","Piccardi-Lassueur-Little syndrome"],[11243,"Grange syndrome","Grange occlusive arterial syndrome","Progressive arterial occlusive disease-hypertension-heart defects-bone fragility-brachysyndactyly syndrome"],[7683,"Grant syndrome"],[7377,"Granular corneal dystrophy type I","Classic GCD","Classic granular corneal dystrophy","Corneal dystrophy Groenouw type I","GCD1","GCDI","Granular corneal dystrophy type 1"],[11855,"Granular corneal dystrophy type II","Avellino corneal dystrophy","GCD2","GCDII","Granular corneal dystrophy type 2","Granular-lattice corneal dystrophy"],[6554,"granuloma annulare"],[35879,"Granuloma faciale","Facial granuloma of Lever","Granuloma of Lever"],[5777,"granuloma inguinale"],[12105,"Granulomatosis with polyangiitis","GPA","Wegener granulomatosis"],[18987,"Granulomatous mastitis","IGM","Idiopathic granulomatous mastitis"],[20977,"granulomatous prostatitis"],[18031,"Granulomatous slack skin","granulomatous slack skin disease"],[7686,"Gray platelet syndrome","Alpha storage pool deficiency","GPS","Platelet alpha-granule deficiency"],[17391,"Grayson-Wilbrandt corneal dystrophy","GWCD"],[1060229,"green tobacco sickness"],[8974,"Greenberg dysplasia"],[8287,"Greig cephalopolysyndactyly syndrome","GCPS"],[958130,"Greig cephalopolysyndactyly-contiguous gene syndrome","GCP-CGS"],[19955,"GRFoma","GRF tumor","Growth hormone releasing factor tumor"],[13509,"GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder","GRIN2B-Related Neurodevelopmental Disorder","intellectual disability, autosomal dominant 6"],[18306,"Griscelli syndrome","Chédiak-Higashi-like syndrome","Griscelli-Pruniéras syndrome","Partial albinism-immunodeficiency syndrome"],[8962,"Griscelli syndrome type 1","Griscelli-Pruniéras syndrome type 1","Hypopigmentation-neurologic impairment syndrome"],[11872,"Griscelli syndrome type 2","Griscelli-Pruniéras syndrome type 2","Hypopigmentation-immunodeficiency with or without neurologic impairment syndrome"],[12220,"Griscelli syndrome type 3","Griscelli-Pruniéras syndrome type 3"],[971080,"Grisel syndrome","Atlantoaxial non-traumatic subluxation"],[17807,"Growing teratoma syndrome"],[14261,"Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome"],[10038,"Growth delay due to insulin-like growth factor I resistance","Resistance to IGF-1"],[12110,"Growth delay due to insulin-like growth factor type 1 deficiency","Growth delay-deafness-intellectual disability syndrome","Growth delay-hearing loss-intellectual disability syndrome","IGF-1 deficiency","Primary insulin-like growth factor deficiency"],[9362,"Growth delay-hydrocephaly-lung hypoplasia syndrome","Game-Friedman-Paradice syndrome"],[14911,"Growth delay-intellectual disability-hepatopathy syndrome","growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy"],[18317,"Growth retardation-mild developmental delay-chronic hepatitis syndrome"],[9313,"Grubben-de Cock-Borghgraef syndrome","Developmental delay-hypotonia-extremities hypertrophy syndrome"],[100186,"GTP cyclohydrolase I deficiency","GTPCH deficiency","Hyperphenylalaninemia due to GTP cyclohydrolase deficiency","GTP cyclohydrolase I deficiency with hyperphenylalaninemia"],[12999,"Guanidinoacetate methyltransferase deficiency","GAMT deficiency"],[16218,"Guillain-Barré syndrome","GBS","Guillain-Barré-Strohl syndrome","Guillain-Barre syndrome"],[23297,"guttate psoriasis"],[8301,"Guttmacher syndrome","Preaxial deficiency-postaxial polydactyly-hypospadias syndrome"],[20540,"Gynandroblastoma","ovarian gynandroblastoma"],[9796,"Gyrate atrophy of choroid and retina","HOGA","Hyperornithinemia","Hyperornithinemia-gyrate atrophy of choroid and retina syndrome","Ornithine aminotransferase deficiency"],[11157,"Gómez-López-Hernández syndrome","Cerebellotrigeminal-dermal dysplasia syndrome","Craniosynostosis-alopecia-brain defect syndrome","Gomez-Lopez-Hernandez syndrome"],[11273,"H syndrome"],[20493,"Haddad syndrome","Congenital central alveolar hypoventilation-Hirschsprung disease syndrome","Ondine-Hirschsprung disease","Ondine-Hirschsprung syndrome"],[8218,"Hailey-Hailey disease","Benign chronic familial pemphigus"],[9491,"Haim-Munk syndrome","Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome","Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome","Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome"],[17600,"Hairy cell leukemia variant","HCL-v","Leukemic reticuloendotheliosis variant","Prolymphocytic variant of HCL","Prolymphocytic variant of hairy cell leukemia"],[7057,"Hajdu-Cheney syndrome","acroosteolysis dominant type"],[9320,"Hall-Riggs syndrome"],[9318,"Hallermann-Streiff syndrome"],[1585,"hallucinogen abuse"],[4939,"hallucinogen dependence"],[9321,"Hallux varus-preaxial polysyndactyly syndrome","Kleiner-Holmes syndrome"],[19767,"Hamel cerebro-palato-cardiac syndrome"],[12726,"HANAC syndrome","Autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome","Hereditary angiopathy-nephropathy-aneurysms-muscle cramps syndrome"],[5779,"hand, foot and mouth disease"],[7698,"Hand-foot-genital syndrome","HFGS","Hand-foot-uterus syndrome"],[5784,"hantavirus hemorrhagic fever with renal syndrome"],[17879,"Hantavirus pulmonary syndrome"],[14805,"Hao-Fountain syndrome","HAFOUS"],[100528,"Hao-Fountain syndrome due to 16p13.2 microdeletion","Chromosome 16p13.2 deletion syndrome","Del(16)(p13.2)","Monosomy 16p13.2"],[8659,"Haptocorrin deficiency","TCI deficiency","Transcobalamin I deficiency"],[4719,"hard palate cancer"],[30048,"Harderoporphyria"],[12997,"Hardikar syndrome","Cholestasis-pigmentary retinopathy-cleft palate syndrome","HDKR","MED12-related Hardikar syndrome"],[9443,"Harlequin ichthyosis","Autosomal congenital ichthyosis, Harlequin type","HI","Ichthyosis congenita, Harlequin type","autosomal recessive congenital ichthyosis 4B"],[16040,"Harlequin syndrome","Progressive isolated segmental anhidrosis"],[10993,"Harrod syndrome","Cranio-facio-digito-genital syndrome"],[9324,"Hartnup disease","Aminoaciduria, Hartnup type","Hartnup disorder"],[14196,"Hartsfield syndrome","Holoprosencephaly-ectrodactyly-cleft lip/palate syndrome","Hartsfield-Bixler-Demyer syndrome"],[7699,"Hashimoto thyroiditis"],[7700,"Hawkinsinuria","4-HPPD deficiency","4-alpha-hydroxyphenylpyruvate hydroxylase deficiency","4-hydroxyphenylpyruvic acid dioxygenase deficiency"],[11848,"headache associated with sexual activity"],[5365,"hearing loss disorder"],[17921,"Hearing loss-familial salivary gland insensitivity to aldosterone syndrome","Tungland-Bellman syndrome"],[6779,"heart aneurysm"],[1340,"heart cancer"],[9008,"Heart defect-tongue hamartoma-polysyndactyly syndrome","Ostravik-Lindemann-Solberg syndrome","heart defect - tongue hamartoma - polysyndactyly syndrome"],[8917,"Heart defects-limb shortening syndrome"],[5252,"heart failure"],[15284,"Heart-hand syndrome type 2","Atriodigital dysplasia type 2","Tabatznik syndrome"],[7702,"Heart-hand syndrome type 3","Atriodigital dysplasia type 3","Cardiomelic syndrome type 3","Heart-hand syndrome, Spanish type","Heart-limb syndrome type 3"],[12417,"Heart-hand syndrome, Slovenian type","Atriodigital dysplasia, Slovenian type","Cardiac conduction disease-dilated cardiomyopathy-brachydactyly syndrome"],[19728,"Heavy chain deposition disease","HCDD"],[19464,"Heavy chain disease","HCD"],[10901,"HEC syndrome","Hydrocephalus-endocardial fibroelastosis-cataract syndrome"],[2209,"heel spur"],[20554,"Heiner syndrome","Cow's milk-induced pulmonary hypersensitivity syndrome"],[7176,"Helicoid peripapillary chorioretinal degeneration","Atrophia areata","SCRA","Sveinsson chorioretinal atrophy"],[8585,"HELLP syndrome","Hemolysis, elevated liver enzymes, low platelets in pregnancy","Hemolysis-elevated liver enzymes-low platelets syndrome"],[4664,"helminthiasis"],[14379,"Helsmoortel-Van der Aa syndrome","ADNP syndrome","ADNP-related Helsmoortel-Van der Aa syndrome","ADNP-related syndromic intellectual disability-autism spectrum disorder","HVDAS","ADNP-related multiple congenital anomalies - intellectual disability - autism spectrum disorder"],[16748,"Hemangioblastoma"],[6500,"hemangioma"],[4431,"hemarthrosis"],[5570,"hematologic disorder"],[13536,"Heme oxygenase-1 deficiency","HO-1 deficiency","heme oxygenase 1 deficiency"],[19485,"Hemiconvulsion-hemiplegia-epilepsy syndrome","IHHS","HHE","HHE syndrome","idiopathic hemiconvulsion-hemiplegia syndrome"],[18615,"Hemicrania continua"],[17649,"Hemidystonia-hemiatrophy syndrome","HD-HA syndrome"],[7590,"Hemifacial hyperplasia","Hemifacial hypertrophy"],[11723,"Hemifacial myohyperplasia"],[7713,"Hemifacial spasm","Facial hemispasm","Focal myoclonus of face","clonic hemifacial spasm"],[17177,"Hemihyperplasia-multiple lipomatosis syndrome","HHML"],[20492,"Hemimegalencephaly","Unilateral megalencephaly"],[17636,"Hemiparkinsonism-hemiatrophy syndrome","HP-HA syndrome"],[15579,"Hemoglobin Bart's fetalis syndrome","HBHF","Haemoglobin Bart's disease","Haemoglobin Bart's hydrops fetalis","Hb Bart's hydrops fetalis syndrome","Hemoglobin Bart's disease","Hemoglobin Bart's hydrops fetalis","Homozygous alpha0-thalassemia","Alpha-thalassemia hydrops fetalis","Alpha-thalassemia major","BHFS","Hb Bart's hydrops fetalis"],[16242,"Hemoglobin C disease","HbCC disease"],[16490,"Hemoglobin C-beta-thalassemia syndrome","C-beta-thalassemia","HbC-beta-thalassemia syndrome"],[19537,"Hemoglobin D disease"],[16243,"Hemoglobin E disease"],[16491,"Hemoglobin E-beta-thalassemia syndrome","E-beta-thalassemia","HbE-beta-thalassemia syndrome"],[13512,"Hemoglobin H disease","Alpha-thalassemia intermedia","HbH disease"],[18022,"Hemoglobin Lepore-beta-thalassemia syndrome","HbLepore-beta-thalassemia syndrome","Lepore-beta-thalassemia syndrome"],[18023,"Hemoglobin M disease","Autosomal dominant methemoglobinemia","M hemoglobinopathy"],[3656,"hemoglobinuria"],[3664,"hemolytic anemia"],[20106,"Hemolytic anemia due to a disorder of glycolytic enzymes","obsolete hemolytic anemia due to a disorder of glycolytic enzymes"],[12967,"Hemolytic anemia due to adenylate kinase deficiency"],[20107,"Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder","Hemolytic anemia due to an erythroenzymopathy","obsolete hemolytic anemia due to an erythrocyte nucleotide metabolism disorder"],[9113,"Hemolytic anemia due to diphosphoglycerate mutase deficiency"],[20458,"Hemolytic anemia due to erythrocyte adenosine deaminase overproduction"],[13275,"Hemolytic anemia due to glucophosphate isomerase deficiency","GPI deficiency","Glucose-6-phosphate isomerase deficiency"],[19531,"Hemolytic anemia due to glutathione reductase deficiency"],[9946,"Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency","P5N deficiency","UMPH1 deficiency","Uridine 5'-monophosphate hydrolase deficiency"],[9950,"Hemolytic anemia due to red cell pyruvate kinase deficiency","Pyruvate kinase deficiency of erythrocytes","pyruvate kinase deficiency of red cells"],[17164,"Hemolytic disease of the newborn with Kell alloimmunization","Anti-K HDN","Maternal anti-Kell alloimmunization"],[18159,"Hemolytic uremic syndrome with DGKE deficiency","HUS with DGKE deficiency","atypical hemolytic-uremic syndrome with DGKE deficiency"],[1549,"hemolytic-uremic syndrome"],[6782,"hemometra"],[15540,"hemophagocytic syndrome"],[10602,"Hemophilia A","Congenital F8 deficiency","Congenital FVIII deficiency","Congenital Factor VIII deficiency"],[10604,"Hemophilia B","Congenital F9 deficiency","Congenital factor IX deficiency","Christmas disease"],[850054,"Hemophilia B Leyden","F9 deficiency, Leyden type","Factor IX deficiency, Leyden type"],[43240,"hemophilic arthropathy"],[6783,"hemopneumothorax"],[15801,"Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation"],[6784,"hemorrhagic disease of newborn"],[18081,"Hemorrhagic fever-renal syndrome","Hantavirosis","Hantavirus fever"],[17942,"Hendra virus infection"],[16256,"Hennekam syndrome","Lymphedema-lymphangiectasia-intellectual disability syndrome"],[18308,"Hepatic cystic hamartoma","Biliary hamartoma","MHL","Mesenchymal hamartoma of liver","VMC","Von Meyenburg complexes disease","liver mesenchymal hamartoma"],[8941,"Hepatic fibrosis-renal cysts-intellectual disability syndrome","Thompson-Baraitser syndrome"],[2357,"hepatic flexure cancer"],[19514,"Hepatic veno-occlusive disease","Sinusoidal obstruction syndrome"],[9338,"Hepatic veno-occlusive disease-immunodeficiency syndrome","VODI syndrome"],[5789,"Hepatitis delta","HDV","Hepatitis D virus","hepatitis D virus infection"],[18666,"Hepatoblastoma"],[18902,"Hepatocellular adenoma"],[7256,"Hepatocellular carcinoma","HCC"],[12191,"Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1","Hepatoencephalopathy due to COXPD1"],[19799,"Hepatoerythropoietic porphyria","HEP"],[18991,"Hepatoportal sclerosis","Obliterative portal venopathy"],[4694,"hepatopulmonary syndrome"],[1382,"hepatorenal syndrome"],[19474,"Hepatosplenic T-cell lymphoma"],[17365,"Hereditary acrokeratotic poikiloderma","Weary syndrome","hereditary acrokeratotic poikiloderma, Weary type"],[7099,"Hereditary amyloidosis with primary renal involvement","Amyloidosis, Ostertag type","Familial amyloid nephropathy","Familial renal amyloidosis","Hereditary amyloid nephropathy","Hereditary renal amyloidosis","familial visceral amyloidosis"],[15053,"Hereditary angioedema type 1","Hereditary angioneurotic edema type 1","HAE 1","HAE-I"],[15054,"Hereditary angioedema type 2","HAE 2","HAE-II","Hereditary angioneurotic edema type 2"],[33946,"Hereditary angioedema with C1Inh deficiency","HAE with C1 inhibitor deficiency","HAE with C1Inh deficiency","Hereditary angioneurotic edema with C1 inhibitor deficiency","Hereditary angioneurotic edema with C1Inh deficiency"],[100567,"Hereditary angioedema with normal C1Inh","HAE with normal C1 inhibitor","HAE with normal C1Inh","Hereditary angioedema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1 inhibitor","Hereditary angioneurotic edema with normal C1Inh"],[35734,"Hereditary angioedema with normal C1Inh not related to F12 or PLG variant"],[7450,"Hereditary arginine vasopressin deficiency","Hereditary CDI","Hereditary neurogenic diabetes insipidus","neurohypophyseal diabetes insipidus"],[8895,"Hereditary arterial and articular multiple calcification syndrome","CALJA","Calcification of joints and arteries"],[100309,"hereditary ataxia"],[18054,"Hereditary atrial fibrillation","familial atrial fibrillation"],[980715,"Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease","cardiac conduction disease with or without cardiomyoopathy"],[7100,"Hereditary ATTR amyloidosis","ATTRv amyloidosis","Familial TTR-related amyloidosis","Familial transthyretin-related amyloidosis","Hereditary TTR amyloid polyneuropathy","Hereditary TTR amyloidosis","Hereditary transthyretin amyloid polyneuropathy","hATTR","familial amyloid neuropathy"],[7486,"Hereditary benign intraepithelial dyskeratosis","HBID","Hereditary benign corneal intraepithelial dyskeratosis"],[3582,"Hereditary breast and/or ovarian cancer syndrome","hereditary breast ovarian cancer syndrome"],[10540,"Hereditary bullous dystrophy, macular type","bullous dystrophy, macular type"],[15270,"Hereditary butyrylcholinesterase deficiency","Hereditary pseudocholinesterase deficiency","butyrylcholinesterase deficiency"],[5620,"Hereditary cerebral amyloid angiopathy","HCHWA","Hereditary cerebral hemorrhage with amyloidosis","cerebral amyloid angiopathy"],[18492,"Hereditary clear cell renal cell carcinoma","Hereditary clear cell renal cell adenocarcinoma"],[15722,"Hereditary combined deficiency of vitamin K-dependent clotting factors","Hereditary combined deficiency of factors II, VII, IX and X","congenital vitamin K-dependent coagulation factors deficiency"],[19943,"Hereditary continuous muscle fiber activity"],[7369,"Hereditary coproporphyria"],[8494,"Hereditary cryohydrocytosis with normal stomatin","cryohydrocytosis"],[12143,"Hereditary cryohydrocytosis with reduced stomatin","CHC type 2","Hereditary cryohydrocytosis type 2","Stomatin-deficient cryohydrocytosis","sdCHC"],[7648,"Hereditary diffuse gastric cancer","FDGC","Familial diffuse cancer of stomach","Familial diffuse gastric cancer","HDGC","Hereditary diffuse cancer of stomach","Hereditary diffuse gastric adenocarcinoma"],[17319,"Hereditary elliptocytosis"],[14310,"Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome","POIKTMP syndrome","hereditary sclerosing poikiloderma with tendon and pulmonary involvement"],[9238,"Hereditary folate malabsorption","Congenital folate malabsorption"],[9249,"Hereditary fructose intolerance","Hereditary fructose-1-phosphate aldolase deficiency","Hereditary fructosemia"],[8588,"Hereditary geniospasm","Hereditary chin myoclonus","Hereditary chin-trembling","Familial trembling of the chin"],[16070,"Hereditary gingival fibromatosis","Autosomal dominant gingival fibromatosis","Autosomal dominant gingival hyperplasia","Hereditary gingival hyperplasia"],[6507,"hereditary hemochromatosis"],[19180,"Hereditary hemorrhagic telangiectasia","HHT","Rendu-Osler disease","Rendu-Osler-Weber disease"],[7272,"Hereditary hypercarotenemia and vitamin A deficiency"],[21022,"Hereditary hyperekplexia"],[10952,"Hereditary hyperferritinemia-cataract syndrome","HHCS","Hereditary hyperferritinemia with cataracts","Hereditary hyperferritinemia-cataract disease","hereditary hyperferritinemia with congenital cataracts"],[9431,"Hereditary hypophosphatemic rickets with hypercalciuria","HHRH"],[13136,"Hereditary hypotrichosis with recurrent skin vesicles"],[17931,"Hereditary inclusion body myopathy type 4","HIBM4"],[19195,"Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome","HIBM3","Hereditary inclusion body myopathy type 3","IBM3","Inclusion body myopathy type 3"],[17057,"Hereditary isolated thrombocytopenia with normal platelets size","obsolete hereditary thrombocytopenia with normal platelets"],[8199,"Hereditary late-onset Parkinson disease","Autosomal dominant late-onset Parkinson disease","LOPD","late-onset Parkinson disease"],[7888,"Hereditary leiomyomatosis and renal cell cancer","Familial leiomyomatosis and renal cell cancer","Familial leiomyomatosis cutis et uteri","Familial leiomyomatosis with renal carcinoma","Familial multiple cutaneous leiomyomas","HLRCC","Hereditary leiomyomatosis","Hereditary leiomyomatosis with renal carcinoma","Hereditary multiple cutaneous leiomyomas","MCUL","Multiple cutaneous and uterine leiomyomas","Reed syndrome"],[11023,"Hereditary mixed polyposis syndrome","HMPS"],[15358,"hereditary motor and sensory neuropathy"],[10877,"Hereditary motor and sensory neuropathy type 5","Charcot-Marie-Tooth disease-pyramidal features syndrome","HMSN 5","HMSN V","Hereditary motor and sensory neuropathy type V","Charcot-Marie-Tooth disease type 5"],[19551,"Hereditary motor and sensory neuropathy type 6","CMT6","Charcot-Marie-Tooth disease type 6","HMSN 6","HMSN VI","Hereditary motor and sensory neuropathy type VI","Peripheral neuropathy and optic atrophy"],[19550,"Hereditary motor and sensory neuropathy with acrodystrophy","AR-CMT2 with acrodystrophy","Autosomal recessive Charcot-Marie-Tooth type 2 with acrodystrophy","Autosomal recessive axonal Charcot-Marie-Tooth disease with acrodystrophy","HMSN with acrodystrophy"],[11468,"Hereditary motor and sensory neuropathy, Okinawa type","HMSNP","Hereditary motor and sensory neuropathy, proximal type"],[8017,"Hereditary mucoepithelial dysplasia","Urban-Schosser-Spohn syndrome"],[11362,"Hereditary myopathy with early respiratory failure","myopathy, myofibrillar, 9, with early respiratory failure"],[9706,"Hereditary myopathy with lactic acidosis due to ISCU deficiency","ISCU-related myopathy","Myopathy due to succinate dehydrogenase and aconitase deficiency","Myopathy with exercise intolerance, Swedish type"],[7116,"Hereditary neurocutaneous malformation","hereditary neurocutaneous angioma"],[18698,"Hereditary neuroendocrine tumor of small intestine","Hereditary SB-NET","Hereditary SI-NET","Hereditary neuroendocrine tumor of small bowel","Small bowel hereditary neuroendocrine tumor","Small intestine hereditary neuroendocrine tumor"],[8087,"Hereditary neuropathy with liability to pressure palsies","Current pressure-sensitive neuropathy","HNPP","Heterozygous microdeletion 17p11.2p12","Potato-grubbing palsy","Tomaculous neuropathy","Tulip-bulb digger's palsy"],[8092,"Hereditary neutrophilia"],[11497,"Hereditary North American Indian childhood cirrhosis"],[43878,"hereditary optic atrophy"],[9797,"Hereditary orotic aciduria","Orotidylic decarboxylase deficiency","Uridine monophosphate synthetase deficiency","orotic aciduria"],[7248,"Hereditary painful callosities","PPK nummularis","Plamoplantar hyperkeratosis nummularis","Plamoplantar keratoderma nummularis","Keratosis palmoplantaris nummularis"],[3789,"Hereditary papillary renal cell carcinoma","HPRC"],[14425,"Hereditary persistence of alpha-fetoprotein","obsolete hereditary persistence of alpha-fetoprotein"],[20989,"hereditary persistence of fetal hemoglobin"],[18749,"Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome","HPFH-beta-thalassemia syndrome"],[14914,"Hereditary persistence of fetal hemoglobin-intellectual disability syndrome","Dias-Logan syndrome"],[16672,"Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome","HPFH-sickle cell disease syndrome"],[17366,"Hereditary pheochromocytoma-paraganglioma","Familial pheochromocytoma-paraganglioma"],[19490,"Hereditary progressive cardiac conduction defect","Hereditary Lenègre disease","Hereditary Lev disease","Hereditary Lev-Lenègre disease","Hereditary PCCD","Hereditary bundle branch defect","Hereditary progressive heart block","progressive familial heart block"],[7725,"Hereditary progressive mucinous histiocytosis"],[12580,"Hereditary pulmonary alveolar proteinosis","Congenital PAP","Congenital pulmonary alveolar proteinosis"],[9071,"Hereditary renal hypouricemia","Familial renal hypouricemia"],[18160,"Hereditary retinoblastoma"],[8261,"Hereditary sclerosing poikiloderma, Weary type"],[17237,"Hereditary sensorimotor neuropathy with hyperelastic skin"],[14016,"Hereditary sensory and autonomic neuropathy due to TECPR2 mutation","Autosomal recessive spastic paraplegia type 49","HSAN due to TECPR2 mutation","SPG49","hereditary spastic paraplegia 49"],[18213,"Hereditary sensory and autonomic neuropathy type 1","Hereditary sensory and autonomic neuropathy type I","HSAN1"],[44720,"Hereditary sensory and autonomic neuropathy type 1B","HSAN with cough and gastroesophageal reflux","HSAN1B","Hereditary sensory and autonomic neuropathy type 1 with cough and gastroesophageal reflux","Hereditary sensory and autonomic neuropathy type IB","cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome","CABV syndrome","CANVAS","Cerebellar ataxia with bilateral vestibulopathy syndrome"],[19941,"Hereditary sensory and autonomic neuropathy type 2","Autosomal recessive sensory radicular neuropathy","HSAN2","Hereditary sensory and autonomic neuropathy type II","Neurogenic acroosteolysis"],[9746,"Hereditary sensory and autonomic neuropathy type 4","CIPA","Congenital insensitivity to pain with anhidrosis","HSAN4","Hereditary sensory and autonomic neuropathy type IV"],[12092,"Hereditary sensory and autonomic neuropathy type 5","CIP","Congenital insensitivity to pain and thermal analgesia","HSAN5","Hereditary sensory and autonomic neuropathy type V"],[13839,"Hereditary sensory and autonomic neuropathy type 6","HSAN6","Hereditary sensory and autonomic neuropathy type VI","Familial dysautonomia with contractures"],[14244,"Hereditary sensory and autonomic neuropathy type 7","CIP with hyperhidrosis and gastrointestinal dysfunction","Congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction","HSAN with hyperhidrosis and gastrointestinal dysfunction","HSAN7","Hereditary sensory and autonomic neuropathy type VII","Hereditary sensory and autonomic neuropathy with hyperhidrosis and gastrointestinal dysfunction"],[14662,"Hereditary sensory and autonomic neuropathy type 8","HSAN8","Hereditary sensory and autonomic neuropathy type VIII","congenital insensitivity to pain-hypohidrosis syndrome"],[15354,"Hereditary sensory and autonomic neuropathy with deafness and global delay","HSAN with deafness and global delay","HSAN with hearing loss and global delay","Hereditary sensory and autonomic neuropathy with hearing loss and global delay"],[13584,"Hereditary sensory neuropathy-deafness-dementia syndrome","HSAN1E","HSN1E","Hereditary sensory neuropathy-sensorineural hearing loss-dementia syndrome"],[12061,"Hereditary sick sinus syndrome","familial sick sinus syndrome"],[17629,"Hereditary sodium channelopathy-related small fibers neuropathy","obsolete sodium channelopathy-related small fiber neuropathy"],[19064,"Hereditary spastic paraplegia","Hereditary spastic paraparesis","SPG","Strümpell-Lorrain disease","Familial spastic paraplegia","HSP"],[19350,"Hereditary spherocytosis","Minkowski-Chauffard disease"],[19006,"Hereditary steroid-resistant nephrotic syndrome","familial idiopathic steroid-resistant nephrotic syndrome"],[11197,"Hereditary thermosensitive neuropathy"],[14837,"Hereditary thrombocytopenia with early-onset myelofibrosis","thrombocytopenia 6"],[13144,"Hereditary thrombophilia due to congenital antithrombin deficiency","Hereditary thrombophilia due to congenital antithrombin 3 deficiency","hereditary antithrombin deficiency"],[13143,"Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency","Hereditary thrombophilia due to congenital HRG deficiency"],[18106,"Hereditary xanthinuria","Classic xanthinuria","Xanthic urolithiasis","Xanthine stone disease"],[17148,"Heritable pulmonary arterial hypertension","FPAH","Familial pulmonary arterial hypertension","HPAH","Hereditary pulmonary arterial hypertension"],[19312,"Hermansky-Pudlak syndrome","HPS"],[11997,"Hermansky-Pudlak syndrome due to AP-3 deficiency","Hermansky-Pudlak syndrome due to adaptor protein 3 complex deficiency","Hermansky-Pudlak syndrome with neutropenia","Hermansky-Pudlak syndrome 2"],[13559,"Hermansky-Pudlak syndrome due to BLOC-1 deficiency","Hermansky-Pudlak syndrome 7"],[16502,"Hermansky-Pudlak syndrome due to BLOC-2 deficiency","HPS without pulmonary fibrosis","Hermansky-Pudlak syndrome without pulmonary fibrosis"],[16501,"Hermansky-Pudlak syndrome due to BLOC-3 deficiency","HPS with pulmonary fibrosis","Hermansky-Pudlak syndrome with pulmonary fibrosis"],[16290,"Hernández-Aguirre Negrete syndrome","Intellectual disability-epilepsy-bulbous nose syndrome"],[5791,"herpangina"],[4712,"herpes simplex dermatitis"],[4609,"herpes simplex infectious disease"],[12521,"Herpes simplex virus encephalitis","HSE","HSV encephalitis","HSVE","Herpes simplex meningo-encephalitis","Herpes simplex neuroinvasion","Herpetic encephalitis","herpes simplex encephalitis"],[15291,"Herpes simplex virus stromal keratitis","stromal keratitis"],[5609,"herpes zoster"],[16164,"Herpetiform pemphigus"],[19754,"HHV-8-associated multicentric Castleman disease","Human herpesvirus-8-associated multicentric Castleman disease","multicentric Castleman disease"],[18572,"HIDEA syndrome","severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome"],[6559,"hidradenitis suppurativa"],[7510,"Hidrotic ectodermal dysplasia","Clouston syndrome"],[11063,"Hidrotic ectodermal dysplasia, Christianson-Fourie type","Christianson-Fourie syndrome"],[15883,"Hidrotic ectodermal dysplasia, Halal type","Halal-Setton-Wang syndrome","Trichodysplasia-abnormal dermatoglyphics-intellectual disability syndrome"],[31257,"High altitude pulmonary edema","HAPE"],[17791,"High bone mass osteogenesis imperfecta","High bone mass OI"],[18813,"High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement"],[9082,"High myopia-sensorineural deafness syndrome","High myopia-sensorineural hearing loss syndrome"],[5253,"high output heart failure"],[16276,"High-grade neuroendocrine carcinoma of the cervix uteri","High-grade neuroendocrine carcinoma of the uterine cervix","Poorly differentiated neuroendocrine carcinoma of the cervix uteri","Poorly differentiated neuroendocrine cervical carcinoma"],[16269,"High-grade neuroendocrine carcinoma of the corpus uteri","High-grade neuroendocrine carcinoma of the uterine corpus","Poorly differentiated neuroendocrine carcinoma of the corpus uteri","Poorly differentiated neuroendocrine carcinoma of the endometrium"],[19395,"Hinman syndrome","HAS","HS","Hinman-Allen syndrome","Non-neurogenic neurogenic bladder","Occult neuropathic bladder"],[7726,"Hip dysplasia, Beukes type","BFHD","Beukes familial hip dysplasia","Cilliers-Beighton syndrome","Premature degenerative osteoarthropathy of the hip"],[18309,"Hirschsprung disease","Aganglionic megacolon","Colonic aganglionosis","Congenital intestinal aganglionosis","HSCR"],[9342,"Hirschsprung disease-deafness-polydactyly syndrome","Hirschsprung disease-hearing loss-polydactyly syndrome","Santos-Mateus-Leal syndrome"],[13082,"Hirschsprung disease-ganglioneuroblastoma syndrome"],[9344,"Hirschsprung disease-nail hypoplasia-dysmorphism syndrome","Al Gazali-Donnai-Muller syndrome"],[16294,"Hirschsprung disease-type D brachydactyly syndrome"],[17989,"His bundle tachycardia","JET","Junctional ectopic tachycardia"],[9345,"Histidinemia","HAL deficiency","HIS deficiency","Histidase deficiency","Histidine ammonia-lyase deficiency","Histidinuria","Hyperhistidinemia"],[9346,"Histidinuria-renal tubular defect syndrome","histidinuria due to a renal tubular defect"],[19479,"Histiocytic sarcoma"],[10771,"Histiocytoid cardiomyopathy","Foamy myocardial transformation of infancy","Infantile cardiomyopathy with histiocytoid change","Infantile xanthomatous cardiomyopathy","Oncocytic cardiomyopathy"],[18312,"Histoplasmosis","Darling disease"],[2613,"histrionic personality disorder"],[5109,"HIV infectious disease"],[18628,"HIV-associated cancer"],[19257,"HJV or HAMP-related hemochromatosis","Hemochromatosis type 2","Juvenile hemochromatosis"],[7669,"HNF1B-related autosomal dominant tubulointerstitial kidney disease","ADTKD-HNF1B","HNF1B-MODY","HNF1B-related nephropathy","MODY5","Maturity-onset diabetes of the young type 5","RCAD syndrome","Renal cysts and diabetes syndrome","Renal dysfunction-early-onset diabetes syndrome"],[12410,"HNRNPA1-related adult-onset distal myopathy","Distal myopathy type 3","Finnish upper limb-onset distal myopathy","MPD3"],[12193,"HNRNPDL-related limb-girdle muscular dystrophy D3","Autosomal dominant limb-girdle muscular dystrophy type 1G","HNRNPDL-related LGMD D3","LGMD type 1G","LGMD1G","Limb-girdle muscular dystrophy type 1G"],[3258,"Hobnail hemangioma","HH","Hobnail haemangioma","THH","Targetoid hemosiderotic haemangioma","Targetoid hemosiderotic hemangioma"],[4952,"Hodgkins lymphoma"],[18690,"Holmes-Adie syndrome","Adie syndrome","Tonic pupil-tendon areflexia syndrome"],[9666,"Holocarboxylase synthetase deficiency","Early-onset multiple carboxylase deficiency","Neonatal multiple carboxylase deficiency"],[16296,"Holoprosencephaly","HPE"],[16299,"Holoprosencephaly-caudal dysgenesis syndrome"],[11059,"Holoprosencephaly-craniosynostosis syndrome","Camero-Lituania-Cohen syndrome","Genoa syndrome"],[9921,"Holoprosencephaly-postaxial polydactyly syndrome","Pseudo-trisomy 13 syndrome"],[8488,"Holoprosencephaly-radial heart renal anomalies syndrome","Steinfeld syndrome"],[7732,"Holt-Oram syndrome"],[9350,"Holzgreve syndrome","Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome","Holzgreve-Wagner-Rehder syndrome"],[4737,"homocystinuria"],[9352,"Homocystinuria due to cystathionine beta-synthase deficiency","CBS-deficient HCU","Classical homocystinuria","Cystathionine beta-synthase deficiency","Cystathionine beta-synthase-deficient homocystinuria","Homocystinuria due to CBS deficiency","classic homocystinuria"],[9353,"Homocystinuria due to methylene tetrahydrofolate reductase deficiency","MTHFR deficiency","Methylene tetrahydrofolate reductase deficiency"],[18964,"Homocystinuria without methylmalonic aciduria","Functional methionine synthase deficiency","Methylcobalamin deficiency"],[18328,"Homozygous familial hypercholesterolemia","HoFH"],[979355,"Homozygous hemoglobin O Arab disease","Homozygous O Arab hemoglobinopathy"],[1642,"hordeolum externum"],[11810,"Horizontal gaze palsy with progressive scoliosis"],[1294,"Horner syndrome"],[13229,"Hot water reflex epilepsy","HWE"],[14602,"Houge-Janssens syndrome type 1","PPP2R5D-related Houge-Janssens syndrome","PPP2R5D-related neurodevelopmental disorder","HJS1","Houge-Janssens syndrome 1"],[14605,"Houge-Janssens syndrome type 2","HJS2","PPP2R1A-related neurodevelopmental disorder","PPP2R1A-related Houge-Janssens syndrome","Houge-Janssens syndrome 2"],[18045,"Hoyeraal-Hreidarsson syndrome","Progressive pancytopenia-immunodeficiency-cerebellar hypoplasia syndrome"],[10327,"HSD10 disease","2-methyl-3-hydroxybutyric aciduria","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency","HSD10 deficiency","MHBD deficiency","HSD10 mitochondrial disease"],[37149,"HSD10 disease, atypical type","HSD10 deficiency, atypical type","Syndromic X-linked intellectual disability type 10","X-linked intellectual disability-choreoathetosis-abnormal behavior syndrome"],[18322,"HSD10 disease, infantile type","2-methyl-3-hydroxybutyric aciduria, classic type","2-methyl-3-hydroxybutyric aciduria, infantile type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, classic type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, infantile type","HSD10 deficiency, classic type","HSD10 deficiency, infantile type","HSD10 disease, classic type","MHBD deficiency, classic type","MHBD deficiency, infantile type"],[18323,"HSD10 disease, neonatal type","2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency, neonatal type","HSD10 deficiency, neonatal type","MHBD deficiency, neonatal type","2-methyl-3-hydroxybutyric aciduria, neonatal type"],[976133,"HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome","MFM13","Myofibrillar myopathy-rimmed vacuoles type 13","myopathy, myofibrillar, 13, with rimmed vacuoles"],[18832,"HTRA1-related autosomal dominant cerebral small vessel disease","HTRA1-related autosomal dominant cerebral angiopathy"],[16425,"Hughes-Stovin syndrome"],[5118,"human granulocytic anaplasmosis"],[18583,"Human infection by orthopoxvirus"],[8611,"Humerus trochlea hypoplasia","humerus trochlea aplasia"],[11065,"Hunter-McAlpine syndrome","Hunter-McAlpine craniosynostosis"],[7739,"Huntington disease","Huntington chorea"],[11299,"Huntington disease-like 1","Early-onset prion disease with prominent psychiatric features","HDL1"],[11671,"Huntington disease-like 2","HDL2"],[11487,"Huntington disease-like 3","HDL3"],[18425,"Huntington disease-like syndrome due to C9ORF72 expansions","C9ORF72-related Huntington disease phenocopy","C9ORF72-related Huntington disease-like syndrome","Huntington disease phenocopy due to C9ORF72 expansions"],[8416,"Huriez syndrome","Palmoplantar hyperkeratosis-sclerodactyly syndrome","Palmoplantar keratoderma-sclerodactyly syndrome","Scleroatrophic syndrome","Sclerotylosis"],[11758,"Hurler syndrome","Hurler disease","MPS1H","MPSIH","Mucopolysaccharidosis type 1H","Mucopolysaccharidosis type IH"],[11759,"Hurler-Scheie syndrome","MPS1H/S","MPSIH/S","Mucopolysaccharidosis type 1H/S","Mucopolysaccharidosis type IH/S"],[8310,"Hutchinson-Gilford progeria syndrome","HGPS","Progeria"],[9229,"Hyaline fibromatosis syndrome"],[11093,"Hyaluronidase deficiency","MPS9","MPSIX","Mucopolysaccharidosis type 9","Mucopolysaccharidosis type IX"],[6248,"Hydatidiform mole","Molar pregnancy"],[16344,"Hydranencephaly"],[18024,"Hydroa vacciniforme"],[18224,"Hydroa vacciniforme-like lymphoma","Angiocentric cutaneous T-cell lymphoma of childhood","HVLL","Hydroa-like cutaneous T-cell lymphoma"],[1150,"hydrocephalus"],[10611,"Hydrocephalus with stenosis of the aqueduct of Sylvius","Bickers-Adams syndrome","HSAS","X-linked HSAS","X-linked acqueductal stenosis","X-linked hydrocephalus","X-linked hydrocephalus with stenosis of aqueduct of Sylvius","X-linked hydrocephalus with stenosis of the aqueduct of Sylvius"],[16350,"Hydrocephalus-blue sclerae-nephropathy syndrome","Daentl-Townsend-Siegel syndrome"],[10972,"Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome","Ferlini-Ragno-Calzolari syndrome","Waaler-Aarskog syndrome"],[16346,"Hydrocephalus-obesity-hypogonadism syndrome","Sengers-Hamel-Otten syndrome"],[10612,"Hydrocephaly-cerebellar agenesis syndrome"],[43164,"Hydrocephaly-low insertion umbilicus syndrome","Palmer-Pagon syndrome","palmer pagon syndrome"],[9363,"Hydrocephaly-tall stature-joint laxity syndrome","Daish-Hardman-Lamont syndrome"],[6037,"Hydrolethalus","hydrolethalus syndrome"],[15193,"Hydrops fetalis","Fetal anasarca","Fetal hydrops","Generalized fetal edema","HF"],[4859,"hydrops of gallbladder"],[14869,"Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome"],[9372,"Hydroxykynureninuria","Kynureninase deficiency","Xanthurenic aciduria","encephalopathy due to hydroxykynureninuria"],[9375,"hymen, imperforate"],[5802,"Hymenolepiasis"],[9378,"Hyper-beta-alaninemia","Hyperalaninemia"],[18037,"hyper-IgE syndrome"],[3947,"hyper-IgM syndrome"],[11528,"Hyper-IgM syndrome type 2","AID deficiency","Activation-induced cytidine deaminase deficiency","HIGM2"],[11735,"Hyper-IgM syndrome type 3","HIGM3","Hyper-IgM syndrome due to CD40 deficiency"],[11985,"Hyper-IgM syndrome type 4","HIGM4"],[11971,"Hyper-IgM syndrome type 5","HIGM5","Hyper-IgM syndrome due to UNG deficiency","Hyper-IgM syndrome due to uracil N-glycosylase"],[15975,"Hyper-IgM syndrome with susceptibility to opportunistic infections","HIGM with susceptibility to opportunistic infections","obsolete hyper-IgM syndrome with susceptibility to opportunistic infections"],[15976,"Hyper-IgM syndrome without susceptibility to opportunistic infections","HIGM without susceptibility to opportunistic infections","obsolete hyper-IgM syndrome without susceptibility to opportunistic infections"],[43303,"hyperacusis"],[3009,"hyperaldosteronism"],[9377,"Hyperammonemia due to N-acetylglutamate synthase deficiency","NAGS deficiency"],[14332,"Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency","CA-VA deficiency"],[193,"Hyperandrogenism due to cortisone reductase deficiency","11-beta-hydroxysteroid dehydrogenase deficiency type 1","cortisone reductase deficiency"],[13595,"Hyperbiliverdinemia","Green jaundice"],[1566,"hypercalcemia disease"],[6790,"hypercementosis"],[16203,"Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency"],[12465,"Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency","Congenital disorder of glycosylation due to PIGM deficiency","PIGM-CDG"],[10375,"Hyperekplexia-epilepsy syndrome","developmental and epileptic encephalopathy, 8"],[15691,"hypereosinophilic syndrome"],[9417,"Hypergonadotropic hypogonadism-cataract syndrome","Lubinsky syndrome"],[9849,"Hyperimmunoglobulinemia D with periodic fever","HIDS","Hyper-IgD syndrome","Hyperimmunoglobinemia D with recurrent fever","Hyperimmunoglobulinemia D syndrome","Partial mevalonate kinase deficiency"],[17935,"Hyperinsulinism due to HNF1A deficiency","Hyperinsulinemic hypoglycemia due to HNF1A deficiency"],[12381,"Hyperinsulinism due to INSR deficiency","Hyperinsulinemic hypoglycemia due to INSR deficiency","Hyperinsulinemic hypoglycemia due to insulin receptor deficiency"],[12382,"Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency","hyperinsulinemic hypoglycemia, familial, 4"],[17183,"Hyperinsulinism due to UCP2 deficiency","Hyperinsulinemic hypoglycemia due to UCP2 deficiency"],[11717,"Hyperinsulinism-hyperammonemia syndrome","HI/HA syndrome"],[8224,"Hyperkalemic periodic paralysis"],[7756,"Hyperkeratosis lenticularis perstans","Flegel disease"],[7757,"Hyperkeratosis-hyperpigmentation syndrome"],[21187,"hyperlipidemia"],[13533,"Hyperlipidemia due to hepatic triacylglycerol lipase deficiency","Hyperlipidemia due to HL deficiency","Hyperlipidemia due to HTGL deficiency","Hyperlipidemia due to hepatic lipase deficiency","Hyperlipidemia due to hepatic triglyceride lipase deficiency"],[9388,"Hyperlysinemia","Hyperlysinemia type I","Lysine alpha-ketoglutarate reductase deficiency"],[11698,"Hypermethioninemia due to glycine N-methyltransferase deficiency","Glycine N-methyltransferase deficiency","Hypermethioninemia due to GNMT deficiency"],[100255,"Hypermethioninemia encephalopathy due to adenosine kinase deficiency","ADK hypermethioninemia","Hypermethioninemia encephalopathy due to ADK deficiency","adenosine kinase deficiency"],[7523,"Hypermobile Ehlers-Danlos syndrome","EDS III","EDS-HT","Ehlers-Danlos syndrome hypermobility type","Ehlers-Danlos syndrome type 3","Hypermobile EDS","hEDS","Ehlers-Danlos syndrome, hypermobility type"],[1798,"hypermobility syndrome"],[4891,"hyperopia"],[9393,"Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome","HHH syndrome","ORNT1 deficiency","Ornithine carrier deficiency","Ornithine translocase deficiency","Triple H syndrome"],[2185,"hyperostosis"],[9395,"Hyperostosis corticalis generalisata","Hyperphosphatasemia tarda","Van Buchem disease"],[7765,"Hyperostosis cranialis interna"],[7768,"Hyperparathyroidism-jaw tumor syndrome","HPT-JT","hyperparathyroidism 2 with jaw tumors"],[44304,"Hyperphenylalaninemia due to DNAJC12 deficiency","Non-phenylketonuric non-BH4-deficiency hyperphenylalaninemia"],[16543,"Hyperphenylalaninemia due to tetrahydrobiopterin deficiency","Hyperphenylalaninemia due to BH4 deficiency"],[16596,"Hyperphosphatasia-intellectual disability syndrome","Mabry syndrome"],[5804,"hyperprolactinemia"],[9400,"Hyperprolinemia type 1","Proline oxidase deficiency"],[9401,"Hyperprolinemia type 2","Delta-1-pyrroline-5-carboxylate dehydrogenase deficiency"],[1205,"hypersecretion glaucoma"],[17853,"Hypersensitivity pneumonitis"],[5466,"hypersomnia"],[6795,"hypersplenism"],[9402,"Hypertelorism-hypospadias-polysyndactyly syndrome","Acrofrontofacionasal dysostosis type 2","Acrofrontofacionasal syndrome type 2","Naguib-Richieri-Costa syndrome","acrofrontofacionasal dysostosis 2"],[9404,"Hypertelorism-microtia-facial clefting syndrome","Bixler-Christian-Gorlin syndrome","HMC syndrome","hypertelorism, microtia, facial clefting syndrome"],[13614,"Hypertelorism-preauricular sinus-punctual pits-deafness syndrome","HPPD","Hypertelorism-preauricular sinus-punctual pits-hearing loss syndrome"],[11517,"Hypertension due to gain-of-function mutations in the mineralocorticoid receptor","Early-onset hypertension with exacerbation in pregnancy","Pseudohyperaldosteronism type 2"],[5044,"hypertensive disorder"],[6796,"hypertensive encephalopathy"],[1302,"hypertensive heart disease"],[6797,"hypertensive retinopathy"],[7693,"Hypertrichosis cubiti","Hairy elbows syndrome","MacDermot-Patton-Williams syndrome","hypertrichosis cubiti-short stature syndrome"],[16381,"Hypertrichosis lanuginosa congenita","Hypertrichosis universalis"],[1334,"hypertrichosis of eyelid"],[17933,"Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation","Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation","Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation","hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation"],[21377,"hypertrophic lichen planus"],[19559,"Hypertrophic or verrucous lupus erythematosus"],[1560,"hypertrophic pyloric stenosis"],[1100,"hypertrophy of breast"],[1689,"hypertrophy of tongue papillae"],[10907,"Hypertryptophanemia","familial hypertryptophanemia"],[13458,"Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome","HUPRA syndrome"],[6798,"hypervitaminosis A"],[4937,"hypervitaminosis D"],[11174,"Hyperzincemia and hypercalprotectinemia","Hz/Hc","PAMI syndrome","PSTPIP1-associated myeloid-related proteinemia inflammatory syndrome","hyperzincemia with functional zinc depletion"],[17181,"Hypnic headache"],[16574,"Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome","Westerhof-Beemer-Cormane syndrome"],[1821,"hypoactive sexual desire disorder"],[9924,"Hypocalcemic vitamin D-dependent rickets","1-alpha-hydroxylase deficiency","PDDRI","Pseudovitamin D-deficient rickets","VDDI","VDDR-I","Vitamin D dependent rickets type I","Vitamin D-dependency type I","vitamin D-dependent rickets, type 1"],[19642,"Hypocalcemic vitamin D-resistant rickets","HVDRR","Hereditary vitamin D-resistant rickets","VDDR II","VDRR II","Vitamin D-dependent rickets type II","Vitamin D-resistant rickets type II","vitamin D-dependent rickets, type 2"],[968955,"Hypocalcified amelogenesis imperfecta","Amelogenesis imperfecta type 3"],[1596,"hypochondriasis"],[19669,"Hypochondrogenesis"],[7793,"Hypochondroplasia"],[18227,"Hypocomplementemic urticarial vasculitis","Anti-C1q vasculitis","Mac Duffie hypocomplementemic urticarial vasculitis","Mac Duffie syndrome","McDuffie hypocomplementemic urticarial vasculitis","McDuffie syndrome"],[8582,"Hypodontia-dysplasia of nails syndrome","Hypodontia-nail dysgenesis syndrome","Tooth and nail syndrome","Witkop syndrome"],[32584,"Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome","ARED14","Autosomal recesive ectodermal dysplasia 14","ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis"],[7073,"Hypoglossia-hypodactyly syndrome","Aglossia-adactylia syndrome","Hanhart syndrome","Jussieu syndrome"],[15497,"Hypoglossia/aglossia","obsolete hypoglossia/aglossia"],[16385,"Hypogonadism-mitral valve prolapse-intellectual disability syndrome","Cantalamessa-Baldini-Ambrosi syndrome"],[16384,"Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome","Salti-Salem syndrome"],[16386,"Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome","Chang-Davidson-Carlson syndrome"],[17406,"Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome","Hypogonadotropic hypogonadism-severe microcephaly-sensorineural deafness-dysmorphism syndrome"],[60564,"Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome","HELIX syndrome"],[14131,"Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome","Shaheen syndrome"],[16535,"Hypohidrotic ectodermal dysplasia","HED"],[10293,"Hypohidrotic ectodermal dysplasia with immunodeficiency","HED-ID","ectodermal dysplasia and immune deficiency"],[9150,"Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome","ANOTHER syndrome","HEDH syndrome"],[10295,"Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome","OL-HED-ID","anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome"],[9416,"Hypoinsulinemic hypoglycemia and body hemihypertrophy"],[8223,"Hypokalemic periodic paralysis","Westphall disease"],[9425,"Hypomandibular faciocranial dysostosis"],[15048,"Hypomaturation amelogenesis imperfecta","Amelogenesis imperfecta type 2"],[7093,"Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism","Amelogenesis imperfecta type 4"],[100600,"Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome","Ataxia-delayed dentition-hypomyelination syndrome"],[700428,"Hypomyelination neuropathy-arthrogryposis syndrome"],[35398,"Hypomyelination of early myelinating structures","HEMS","obsolete hypomyelination of early myelinating structures"],[12905,"Hypomyelination with atrophy of basal ganglia and cerebellum","H-ABC","leukodystrophy, hypomyelinating, 6"],[14115,"Hypomyelination with brain stem and spinal cord involvement and leg spasticity","HBSL"],[18655,"Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome"],[12514,"Hypomyelination-congenital cataract syndrome","leukodystrophy, hypomyelinating, 5"],[19505,"Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome","obsolete hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome"],[1220,"hypoparathyroidism"],[7797,"Hypoparathyroidism-sensorineural deafness-renal disease syndrome","Barakat syndrome","HDR syndrome","Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome","hypoparathyroidism-deafness-renal disease syndrome"],[5806,"hypopharynx cancer"],[18570,"Hypophosphatasia","HPP","Phosphoethanolaminuria","Rathbun disease"],[14227,"Hypopigmentation-punctate palmoplantar keratoderma syndrome","Cole disease","Guttate hypopigmentation and punctate palmoplantar keratoderma","Hypopigmentation and punctate keratosis of the palms and soles"],[5152,"hypopituitarism"],[20399,"Hypoplasia of the mitral valve annulus","congenital hypoplasia of the mitral valve annulus"],[9009,"Hypoplasminogenemia"],[15047,"Hypoplastic amelogenesis imperfecta","Amelogenesis imperfecta type 1"],[4933,"Hypoplastic left heart syndrome","HLHS"],[17400,"Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome","hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome"],[20291,"Hypoplastic right heart syndrome"],[1036,"hypopyon"],[11323,"Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome","Bosma arhinia-microphthalmia syndrome","Bosma-Henkin-Christiansen syndrome","arhinia, choanal atresia, and microphthalmia"],[5345,"hypospadias"],[9435,"Hypospadias-intellectual disability, Goldblatt type syndrome","Goldblatt-Wallis syndrome"],[5468,"hypotensive disorder"],[18620,"Hypothalamic adipsic hypernatraemia syndrome"],[16411,"Hypothyroidism due to deficient transcription factors involved in pituitary development or function"],[10142,"Hypothyroidism due to TSH receptor mutations"],[45,"hypothyroidism, congenital, nongoitrous"],[12718,"Hypotonia with lactic acidemia and hyperammonemia","COXPD5","Combined oxidative phosphorylation defect type 5"],[11669,"Hypotonia-cystinuria syndrome","HCS"],[13539,"Hypotonia-failure to thrive-microcephaly syndrome","LTC4 synthase deficiency","Leukotriene C4 synthase deficiency"],[14176,"Hypotonia-speech impairment-severe cognitive delay syndrome","Infantile hypotonia-psychomotor retardation-characteristic facies syndrome","IHPRF syndrome","hypotonia, infantile, with psychomotor retardation and characteristic facies"],[24567,"Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency","hypotonia, infantile, with psychomotor retardation and characteristic facies 1"],[14777,"Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency","hypotonia, infantile, with psychomotor retardation and characteristic facies 2"],[18914,"Hypotrichosis simplex","Hereditary hypotrichosis simplex"],[19575,"Hypotrichosis simplex of the scalp","Hereditary hypotrichosis simplex of the scalp"],[11107,"Hypotrichosis with juvenile macular degeneration","HJMD","Hypotrichosis with juvenile macular dystrophy","congenital hypotrichosis with juvenile macular dystrophy"],[18021,"Hypotrichosis-deafness syndrome","Hypotrichosis-hearing loss syndrome"],[16414,"Hypotrichosis-intellectual disability, Lopes type","Lopes-Marques de Faria syndrome"],[7670,"Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome","Hypotrichosis-lymphedema-telangiectasia-membranoproliferative glomerulonephritis syndrome","hypotrichosis-lymphedema-telangiectasia syndrome (grouping)"],[11884,"Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome","HOPP syndrome","Hypotrichosis-osteolysis-periodontitis-palmoplantar hyperkeratosis syndrome","Hypotrichosis-striate palmoplantar hyperkeratosis-acroosteolysis-periodontitis syndrome","Hypotrichosis-striate palmoplantar keratoderma-acroosteolysis-periodontitis syndrome"],[10299,"Hypoxanthine guanine phosphoribosyltransferase partial deficiency","HPRT deficiency, grade I","HPRT partial deficiency","HPRT-related gout","HPRT-related hyperuricemia","HPRT1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase 1 partial deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade I","Kelley-Seegmiller syndrome"],[16778,"Iatrogenic botulism","Inadvertent botulism"],[34976,"Iatrogenic Creutzfeldt-Jakob disease","Iatrogenic MCJ","iCJD"],[43543,"iatrogenic disease"],[133,"ICF syndrome","Immunodeficiency-centromeric instability-facial anomalies syndrome","Immunodeficiency-centromeric instability-facial dysmorphism syndrome"],[979234,"ICHAD syndrome","Immune dysregulation-craniofacial anomalies-hearing impairment-athelia-developmental delay syndrome"],[100212,"Ichthyosis follicularis-alopecia-photophobia syndrome","IFAP syndrome","Ichthyosis follicularis-atrichia-photophobia syndrome"],[7808,"Ichthyosis hystrix of Curth-Macklin"],[9444,"Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome","Jagell-Holmgren-Hofer syndrome"],[9445,"Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome","Dykes-Marks-Harper syndrome"],[11218,"Ichthyosis-hypotrichosis syndrome","Hypotrichosis-congenital ichthyosis syndrome","IFAH syndrome","IHS","Ichthyosis-follicular atrophoderma-hypotrichosis syndrome","Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome","autosomal recessive congenital ichthyosis 11"],[9446,"Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome","Passwell-Goodman-Siprkowski syndrome"],[9792,"Ichthyosis-oral and digital anomalies syndrome","Clayton Smith-Donnai syndrome"],[12089,"Ichthyosis-prematurity syndrome","Congenital ichthyosis type 4","IPS","ichthyosis prematurity syndrome"],[13176,"Ichthyosis-short stature-brachydactyly-microspherophakia syndrome","15q26.3 microdeletion syndrome","Weill-Marchesani 4 syndrome, recessive"],[19635,"Idiopathic achalasia"],[19122,"Idiopathic acute eosinophilic pneumonia","IAEP"],[15344,"Idiopathic acute transverse myelitis"],[12197,"Idiopathic aplastic anemia","Idiopathic bone marrow failure"],[18380,"Idiopathic avascular necrosis","Idiopathic AVN"],[15743,"Idiopathic bilateral vestibulopathy"],[18956,"Idiopathic bronchiectasis"],[15271,"Idiopathic camptocormia","Idiopathic camptocormism","Idiopathic progressive lumbar kyphosis"],[957487,"Idiopathic catatonia","Idiopathic catatonic syndrome","Isolated catatonia","Isolated catatonic syndrome"],[14226,"Idiopathic CD4 lymphocytopenia"],[17363,"Idiopathic chronic eosinophilic pneumonia","Chronic eosinophilic pneumonia"],[979357,"Idiopathic chronic pancreatitis"],[19858,"Idiopathic congenital hypothyroidism"],[16204,"Idiopathic copper-associated cirrhosis","Non-Wilsonian hepatic copper toxicosis of infancy and childhood"],[1182,"idiopathic corneal edema"],[18654,"Idiopathic dropped head syndrome","Isolated neck extensor myopathy"],[18807,"Idiopathic ductopenia","Idiopathic adult ductopenia","IAD"],[16610,"Idiopathic eosinophilic myositis","Idiopathic eosinophilia-associated myopathy"],[15927,"Idiopathic eosinophilic pneumonia"],[34150,"Idiopathic gastroparesis"],[18008,"Idiopathic giant cell myocarditis","IGCM"],[700418,"Idiopathic hypercalciuria"],[11895,"Idiopathic hypereosinophilic syndrome"],[18044,"Idiopathic hypersomnia","Idiopathic excessive sleepiness"],[16451,"idiopathic hypersomnia with long sleep time"],[16452,"idiopathic hypersomnia without long sleep time"],[2429,"idiopathic interstitial pneumonia"],[9468,"Idiopathic intracranial hypertension","Benign intracranial hypertension","IIH","Pseudotumor cerebri"],[19849,"Idiopathic isolated micropenis","isolated micropenis"],[19409,"Idiopathic juvenile osteoporosis","IJO","Juvenile osteoporosis"],[17789,"Idiopathic linear interstitial keratitis"],[19554,"Idiopathic localized lipodystrophy"],[18146,"Idiopathic macular telangiectasia type 1","Aneurysmal telangiectasia","Visible and exudative idiopathic juxtafoveolar retinal telangiectasis","macular telangiectasia type 1"],[18147,"Idiopathic macular telangiectasia type 3","Occlusive idiopathic juxtafoveolar retinal telangiectasis","macular telangiectasia type 3"],[19393,"Idiopathic malabsorption due to bile acid synthesis defects","Idiopathic bile acid malabsorption"],[100051,"idiopathic mast cell activation syndrome"],[35838,"Idiopathic multicentric Castleman disease","HHV-8-negative multicentric Castleman disease","Human herpesvirus-8-negative multicentric Castleman disease"],[35459,"Idiopathic multidrug-resistant nephrotic syndrome"],[18684,"Idiopathic neonatal atrial flutter"],[35763,"Idiopathic non-lupus full-house nephropathy","Idiopathic non-lupus FHN"],[44690,"Idiopathic optic perineuritis","Idiopathic OPN","optic perineuritis"],[17258,"Idiopathic panuveitis"],[18809,"Idiopathic peliosis hepatis","Idiopathic peliosis hepatitis"],[1295,"idiopathic peripheral autonomic neuropathy"],[18635,"Idiopathic phalangeal acro-osteolysis","Idiopathic phalangeal acroosteolysis"],[44633,"Idiopathic pleuroparenchymal fibroelastosis","IPPFE","Idiopathic pleuropulmonary fibroelastosis"],[17257,"Idiopathic posterior uveitis"],[957481,"Idiopathic pregnancy-associated osteoporosis","PLO","Pregnancy and lactation-associated osteoporosis","Pregnancy induced osteoporosis","Idiopathic premenopausal osteoporosis associated with pregnancy","Osteoporosis of pregnancy","PAO"],[1999,"Idiopathic pulmonary arterial hypertension","IPAH","Primary pulmonary arterial hypertension"],[15664,"Idiopathic pulmonary artery dilatation"],[800504,"Idiopathic pulmonary fibrosis","IPF"],[8346,"Idiopathic pulmonary hemosiderosis","pulmonary hemosiderosis"],[16662,"Idiopathic recurrent pericarditis","Idiopathic relapsing pericarditis"],[17170,"Idiopathic recurrent stupor"],[958265,"Idiopathic scleritis"],[958122,"Idiopathic small fibers neuropathy","Idiopathic-SFN"],[7385,"Idiopathic spontaneous coronary artery dissection","Idiopathic SCAD"],[31008,"Idiopathic steroid-resistant nephrotic syndrome","Idiopathic SRNS","nephrotic syndrome, type 24"],[35460,"Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy","Idiopathic steroid-resistant nephrotic syndrome with sensitivity to intensified immunosuppression"],[19067,"Idiopathic steroid-sensitive nephrotic syndrome"],[35764,"Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance","Idiopathic SSNS with secondary steroid resistance","Secondary SRNS","Secondary steroid-resistant nephrotic syndrome"],[958099,"Idiopathic subglottic stenosis","iSGS"],[20510,"Idiopathic syringomyelia"],[8060,"Idiopathic trachyonychia","nonsyndromic congenital nail disorder 1"],[44211,"idiopathic urticaria"],[16206,"Idiopathic uveal effusion syndrome"],[100234,"Idiopathic ventricular fibrillation","paroxysmal familial ventricular fibrillation"],[15924,"Idiopathic/heritable pulmonary arterial hypertension","Idiopathic and/or familial pulmonary arterial hypertension","pulmonary arterial hypertension"],[975919,"IFIH1-related hereditary spastic paraplegia","Interferon induced with helicase C domain 1-related hereditary spastic paraplegia"],[34127,"IgA pemphigus"],[18672,"IgG4-related aortitis"],[19191,"IgG4-related dacryoadenitis and sialadenitis","Chronic dacryoadenitis and sialadenitis","Mikulicz disease"],[18671,"IgG4-related kidney disease"],[18978,"IgG4-related mediastinitis","Fibrosing mediastinitis","Mediastinal fibrosis","Sclerosing mediastinitis"],[16544,"IgG4-related mesenteritis","Isolated mesenteric lipodystrophy","Lipomatous mesenteritis","Liposclerotic mesenteritis","Mesenteric lipogranuloma","Mesenteric panniculitis","Sclerosing mesenteritis"],[18675,"IgG4-related ophthalmic disease","IgG4-related ophthalmic disorder"],[18673,"IgG4-related pachymeningitis","Idiopathic hypertrophic pachymeningitis"],[18848,"IgG4-related retroperitoneal fibrosis","Idiopathic retroperitoneal fibrosis","Ormond disease"],[18645,"IgG4-related sclerosing cholangitis"],[18674,"IgG4-related submandibular gland disease","Küttner tumor"],[17287,"IgG4-related systemic disease","immunoglobulin G4-related sclerosing disease"],[18992,"IgG4-related thyroid disease","Riedel disease","Riedel thyroiditis"],[14338,"IL21-related infantile inflammatory bowel disease","IL21-related infantile IBD"],[15065,"Ileal neuroendocrine tumor","Ileal neuroendocrine neoplasm","ileal neuroendocrine tumor, well differentiated, low or intermediate grade"],[955,"ileum cancer"],[32916,"Imagawa-Matsumoto syndrome","SUZ12-related overgrowth syndrome"],[13873,"IMAGe syndrome","Intrauterine growth retardation-metaphyseal dysplasia-adrenal hypoplasia congenita-genital anomalies syndrome"],[9853,"Imerslund-Gräsbeck syndrome","Familial megaloblastic anemia","Selective cobalamin malabsorption with proteinuria","Imerslund-Grasbeck syndrome"],[9448,"Iminoglycinuria"],[979328,"Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency"],[33969,"Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome","NFAT5 haploinsufficiency","inflammatory bowel disease-recurrent sinopulmonary infections syndrome"],[16542,"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome","IL10-related early-onset IBD","IL10-related early-onset inflammatory bowel disease"],[33968,"Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome"],[10580,"Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome","Autoimmune enteropathy type 1","IPEX"],[18221,"Immune hydrops fetalis","IHF","Immune HF","Immune fetal edema","Immune fetal hydrops"],[100185,"immune reconstitution inflammatory syndrome"],[8558,"Immune thrombocytopenia","ITP","Immune thrombocytopenic purpura","autoimmune thrombocytopenic purpura"],[16098,"Immune-mediated necrotizing myopathy","AINM","Autoimmune necrotizing myositis","IMNM","NAM","Necrotizing autoimmune myositis"],[958266,"Immune-mediated scleritis"],[19740,"Immune-mediated thrombotic thrombocytopenic purpura","Acquired TTP","Acquired thrombotic thrombocytopenic purpura","Autoimmune thrombotic thrombocytopenic purpura","Thrombotic thrombocytopenic purpura due to anti-ADAMTS-13 antibodies","aTTP","iTTP"],[11476,"Immunodeficiency by defective expression of MHC class I","Bare lymphocyte syndrome type 1","MHC class I deficiency"],[8855,"Immunodeficiency by defective expression of MHC class II","Bare lymphocyte syndrome type 2","MHC class II deficiency"],[15699,"Immunodeficiency due to a classical component pathway complement deficiency","Immunodeficiency due to C1, C4, or C2 component complement deficiency","Immunodeficiency due to an early component of complement deficiency"],[15136,"Immunodeficiency due to a complement cascade protein anomaly","obsolete immunodeficiency due to a genetic complement cascade protein anomaly"],[15700,"Immunodeficiency due to a late component of complement deficiency","Immunodeficiency due to C5 to C9 component complement deficiency","Terminal complement pathway deficiency"],[11664,"Immunodeficiency due to CD25 deficiency","Interleukin-2 receptor alpha chain deficiency"],[13467,"Immunodeficiency due to ficolin3 deficiency"],[13423,"Immunodeficiency due to MASP-2 deficiency"],[19093,"Immunodeficiency due to selective anti-polysaccharide antibody deficiency","SPAD","Selective anti-polysaccharide antibody deficiency","Specific anti-polysaccharide antibody deficiency","Specific polysaccharide antibody deficiency"],[12350,"Immunodeficiency with factor H anomaly","complement factor H deficiency"],[12594,"Immunodeficiency with factor I anomaly","Complete factor I deficiency","complement factor I deficiency"],[5342,"Immunoglobulin A nephropathy","Berger disease","IgA nephropathy","IgA glomerulonephritis"],[19167,"Immunoglobulin A vasculitis","Anaphylactoid purpura","Henoch-Schönlein purpura","IgA vasculitis","Purpura rheumatica","Rheumatoid purpura"],[15697,"Immunoglobulin heavy chain deficiency"],[14005,"Immunoglobulin-mediated membranoproliferative glomerulonephritis","Ig-mediated MPGN","Ig-mediated membranoproliferative glomerulonephritis","Immunoglobulin-mediated MPGN"],[19991,"Immunotactoid glomerulopathy","Immunotactoid glomerulonephritis"],[957423,"Immunotherapy induced hypophysitis"],[1343,"impaired renal function disease"],[1046,"imperforate anus"],[17162,"Imperforate oropharynx-costovertebral anomalies syndrome","Seghers syndrome","imperforate oropharynx-costo vetebral anomalies syndrome"],[4592,"impetigo"],[6802,"inappropriate ADH syndrome"],[19228,"inborn disorder of histidine metabolism"],[18685,"Incessant infant ventricular tachycardia"],[507,"Inclusion body myopathy with Paget disease of bone and frontotemporal dementia"],[7827,"Inclusion body myositis","IBM","Sporadic inclusion body myositis","sIBM"],[5808,"inclusion conjunctivitis"],[35696,"Incomplete septal cirrhosis","Incomplete septal fibrosis"],[10631,"Incontinentia pigmenti","Bloch-Siemens syndrome","Bloch-Sulzberger syndrome"],[15538,"Indeterminate cell histiocytosis","Indeterminate dendritic cell neoplasm","Indeterminate dendritic cell tumor"],[6038,"indeterminate colitis"],[1391,"indeterminate leprosy"],[24665,"indeterminate sex and/or pseudohermaphroditism"],[20331,"Indolent systemic mastocytosis"],[16005,"Indomethacin embryofetopathy","Fetal indomethacin syndrome"],[15804,"Infant botulism","Infant intestinal botulism","Infant intestinal toxemia botulism","Infant intestinal toxin-mediated botulism","Infantile botulism"],[1323,"infant gynecomastia"],[858940,"Infant-type hemispheric glioma","IHG"],[19092,"Infantile apnea","Apnea in full-term infants","Apnea of infancy"],[13802,"Infantile cerebellar-retinal degeneration"],[13351,"Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly"],[8981,"Infantile choroidocerebral calcification syndrome"],[16039,"Infantile digital fibromatosis","Inclusion body fibromatosis","Recurring digital fibrous tumor of childhood","Reye tumor"],[13150,"Infantile dystonia-parkinsonism","DTDS","Dopamine transporter deficiency syndrome","IPD","PKDYS","parkinsonism-dystonia, infantile"],[18097,"Infantile epileptic spasms syndrome","IESS","infantile spasms"],[18226,"Infantile epileptic-dyskinetic encephalopathy"],[17354,"Infantile glycine encephalopathy","Infantile NKH","Infantile non-ketotic hyperglycinemia"],[14162,"Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency","COXPD16","Combined oxidative phosphorylation defect type 16"],[1010169,"Infantile hypophosphatasia","Infantile Rathbun disease","Infantile phosphoethanolaminuria"],[33864,"Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome","BAGOS","Baker-Gordon syndrome","SYT1-related neurodevelopmental disorder"],[32601,"Infantile inflammatory bowel disease with neurological involvement","inflammatory bowel disease, immunodeficiency, and encephalopathy"],[16089,"Infantile Krabbe disease","Krabbe disease, classic form","Krabbe disease, early-onset"],[11988,"Infantile LAD-like disease due to RAC2 deficiency","Infantile leukocyte adhesion deficiency due to Rac family small GTPase 2 deficiency","neutrophil immunodeficiency syndrome"],[16588,"Infantile mercury poisoning","Erythroedema polyneuritis","Feer disease","Infantile acrodynia","Infantile mercury intoxication","Pink disease","Swift disease","Swift-Feer disease"],[8000012,"Infantile multisystem neurologic-endocrine-pancreatic disease","IMNEPD","neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1"],[16824,"Infantile myofibromatosis"],[11190,"Infantile nephronophthisis","Autosomal recessive infantile NPHP","Autosomal recessive infantile nephronophthisis","nephronophthisis 2"],[18467,"Infantile nephropathic cystinosis","nephropathic infantile cystinosis"],[33613,"Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome","HPDL-related Leigh-like encephalopathy","HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome","neurodevelopmental disorder with progressive spasticity and brain white matter abnormalities"],[9756,"Infantile neurovisceral acid sphingomyelinase deficiency","Infantile neurovisceral ASMD","NPD-A","Niemann-Pick disease type A"],[16661,"Infantile onset panniculitis with uveitis and systemic granulomatosis"],[10866,"Infantile osteopetrosis with neuroaxonal dysplasia"],[19609,"Infantile Refsum disease","IRD","Mild PBD-ZSD","Mild peroxisome biogenesis disorder-Zellweger spectrum disorder","Zellweger spectrum disorders","Zellweger syndrome"],[17852,"Infantile spasms-broad thumbs syndrome","Tsao-Ellingson syndrome"],[16981,"Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome","infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome"],[16331,"Infantile systemic hyalinosis"],[11797,"Infantile-onset ascending hereditary spastic paralysis","IAHSP"],[11950,"Infantile-onset autosomal recessive nonprogressive cerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 6","SCAR6"],[18705,"Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome","ANOAC","Axonal neuropathy-optic atrophy-cognitive deficit syndrome"],[44637,"Infantile-onset generalized dyskinesia with orofacial involvement","Infantile-onset orofacial-trunk-limbs dyskinesia"],[14912,"Infantile-onset periodic fever-panniculitis-dermatosis syndrome","ORAS","OTULIN deficiency","OTULIN-related autoinflammatory syndrome","Otulipenia","autoinflammation, panniculitis, and dermatosis syndrome, autosomal recessive"],[20840,"Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","OAS1 deficiency","OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia","pulmonary alveolar proteinosis with hypogammaglobulinemia"],[10060,"Infantile-onset spinocerebellar ataxia","IOSCA","Ohaha syndrome","Ophthalmoplegia-hypotonia-ataxia-hypoacusis-athetosis syndrome","mitochondrial DNA depletion syndrome 7 (hepatocerebral type)"],[10532,"Infantile-onset X-linked spinal muscular atrophy","SMAX2","Spinal muscular atrophy with arthrogryposis","X-linked distal arthrogryposis multiplex congenita","X-linked spinal muscular atrophy type 2"],[4919,"infected hydrocele"],[34103,"Infection-related hemolytic uremic syndrome","Infection-related HUS"],[17210,"Infectious anterior uveitis"],[5550,"infectious disease"],[15289,"Infectious epithelial keratitis"],[23483,"infectious myositis"],[100642,"infectious neuropathy"],[17211,"Infectious panuveitis"],[4522,"infectious peritonitis"],[17209,"Infectious posterior uveitis"],[958264,"Infectious scleritis"],[17326,"Infective dermatitis associated with HTLV-1","IDH","Infective dermatitis associated with human T-lymphotropic virus type 1","Infective dermatitis associated with human T-lymphotropic virus type I"],[565,"Infective endocarditis","Infectious endocarditis"],[20452,"Inferior vena cava interruption without azygos continuation","IVC interruption","Inferior caval vein interruption","inferior vena cava interruption"],[1337,"inflamed seborrheic keratosis"],[6804,"Inflammatory breast cancer","IBC","ICB","Inflammatory carcinoma of the breast","Mastitis carcinomatosa","inflammatory breast carcinoma"],[19318,"Inflammatory linear verrucous epidermal nevus","ILVEN"],[15798,"Inflammatory myofibroblastic tumor"],[16609,"Inflammatory myopathy with abundant macrophages","IMAM"],[19528,"Inflammatory pseudotumor of the liver"],[16534,"Infundibulo-neurohypophysitis"],[16595,"Inhalational anthrax","Inhalation anthrax disease","Pulmonary anthrax","Respiratory anthrax","Respiratory anthrax disease"],[16777,"Inhalational botulism","Inhalation botulism"],[17893,"Inherited acute myeloid leukemia","Familial AML","Inherited AML","Pure familial AML","Pure familial acute myeloid leukemia"],[11584,"Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations","Fanconi anemia complementation group D1"],[16215,"Inherited congenital spastic tetraplegia","Inherited congenital spastic quadriplegia","spastic quadriplegic cerebral palsy"],[7403,"Inherited Creutzfeldt-Jakob disease","Inherited CJD"],[20573,"inherited disease susceptibility"],[9176,"Inherited epidermodysplasia verruciformis","Lewandowsky-Lutz syndrome","Lutz-Lewandowsky epidermodysplasia verruciformis","epidermodysplasia verruciformis"],[15947,"inherited ichthyosis"],[17337,"Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency"],[16342,"Inherited isolated arrhythmogenic cardiomyopathy","familial isolated arrhythmogenic right ventricular dysplasia"],[17401,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant","ALVC","Arrhythmogenic cardiomyopathy dominant-left variant","Arrhythmogenic cardiomyopathy with left ventricular involvement","Familial isolated arrhythmogenic ventricular dysplasia, left-dominant form","familial isolated arrhythmogenic ventricular dysplasia, left dominant form"],[17403,"Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant","Arrhythmogenic cardiomyopathy dominant-right variant","Arrhythmogenic cardiomyopathy with right ventricular involvement","Familial isolated arrhytmogenic ventricular dysplasia, right dominant form","familial isolated arrhythmogenic ventricular dysplasia, right dominant form"],[17402,"Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant","Familial isolated arrhythmogenic ventricular dysplasia, biventricular form"],[19118,"inherited retinal dystrophy"],[18968,"Iniencephaly"],[2467,"inner ear disorder"],[13600,"insomnia"],[18465,"Insulin autoimmune syndrome","Hirata disease"],[12520,"Insulin-resistance syndrome type A"],[16464,"Insulin-resistance syndrome type B"],[5048,"Insulinoma","pancreatic insulin-producing neuroendocrine tumor"],[32919,"intellectual developmental disorder 62"],[1071,"intellectual disability"],[18733,"Intellectual disability syndrome due to a DYRK1A point mutation","DYRK1A-related intellectual disability syndrome due to a point mutation"],[9584,"Intellectual disability, Buenos-Aires type","Mutchinick syndrome"],[10203,"Intellectual disability, Wolff type","Wolff-Zimmermann syndrome"],[10460,"Intellectual disability-alacrima-achalasia syndrome","syndromic X-linked intellectual disability 17"],[60568,"Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome","Pilarowski-Bjornsson syndrome"],[10505,"Intellectual disability-balding-patella luxation-acromicria syndrome","Scholte-Begeer-van Essen syndrome"],[12095,"Intellectual disability-brachydactyly-Pierre Robin syndrome"],[34989,"Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome","Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome due to mutation in PUF60 gene"],[9798,"Intellectual disability-cataracts-calcified pinnae-myopathy syndrome","Primrose syndrome"],[14601,"Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome","SNX14-related autosomal recessive spinocerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 20","Intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome","SCAR20","autosomal recessive spinocerebellar ataxia 20"],[32830,"Intellectual disability-cupped ears syndrome","Snijders Blok-Fisher syndrome"],[9581,"Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome"],[31002,"Intellectual disability-early-onset cataract-microcephaly syndrome","Baralle-Macken syndrome"],[14952,"Intellectual disability-epilepsy-extrapyramidal syndrome"],[14035,"Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome","CTNNB1 syndrome","CTNNB1-NDD","CTNNB1-related neurodevelopmental disorder","severe intellectual disability-progressive spastic diplegia syndrome"],[18253,"Intellectual disability-facial dysmorphism-hand anomalies syndrome"],[18243,"Intellectual disability-hyperkinetic movement-truncal ataxia syndrome"],[15458,"Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome","Da Silva syndrome"],[17805,"Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome"],[18711,"Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome"],[9671,"Intellectual disability-myopathy-short stature-endocrine defect syndrome","Chudley-Rozdilsky syndrome"],[18123,"Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome","Autosomal recessive intellectual disability due to TRAPPC9 deficiency"],[11722,"Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome","MOMES syndrome"],[17682,"Intellectual disability-polydactyly-uncombable hair syndrome","Kozlowski-Krajewska syndrome"],[54636,"Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome","Skraban-Deardorff syndrome"],[14165,"Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome","Congenital disorder of glycosylation due to PIGT deficiency","MCAHS type 3","Multiple congenital anomalies-hypotonia-seizures syndrome type 3","PIGT-CDG","multiple congenital anomalies-hypotonia-seizures syndrome 3"],[18248,"Intellectual disability-seizures-macrocephaly-obesity syndrome","Der(8)t(8;12)"],[17668,"Intellectual disability-short stature-hypertelorism syndrome","Stoll-Géraudel-Chauvin syndrome"],[9524,"Intellectual disability-spasticity-ectrodactyly syndrome","Jancar syndrome"],[60763,"Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome","BCL11B-related neurodevelopmental disorder","intellectual developmental disorder with speech delay, dysmorphic facies, and t-cell abnormalities"],[14119,"Intellectual disability-strabismus syndrome"],[6664,"Interatrial communication","ASD","Atrial septal defect","Interauricular communication"],[9975,"Interdigitating dendritic cell sarcoma","Interdigitating cell sarcoma","Reticulum cell sarcoma"],[35557,"Intermediate atrioventricular septal defect","Intermediate AVSD","Intermediate atrioventricular canal defect","Transitional atrioventricular canal defect","obsolete intermediate atrioventricular septal defect"],[958353,"Intermediate collagen VI-related muscular dystrophy","Intermediate COL6-RD"],[6805,"intermediate coronary syndrome"],[20569,"Intermediate DEND syndrome","Developmental delay-epilepsy-neonatal diabetes syndrome, intermediate form"],[15006,"Intermediate epidermolysis bullosa simplex with cardiomyopathy","Intermediate EBS with cardiomyopathy","epidermolysis bullosa simplex 6, generalized, with scarring and hair loss"],[19307,"Intermediate generalized junctional epidermolysis bullosa","Generalized atrophic benign epidermolysis bullosa","Generalized junctional epidermolysis bullosa, non-Herlitz type","Intermediate generalized JEB","Junctional epidermolysis bullosa generalisata mitis","Junctional epidermolysis bullosa, Disentis type","generalized junctional epidermolysis bullosa non-Herlitz type"],[17052,"Intermediate maple syrup urine disease","Intermediate BCKD deficiency","Intermediate MSUD","Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency"],[15736,"Intermediate nemaline myopathy"],[12679,"Intermediate osteopetrosis","Autosomal recessive intermediate osteopetrosis","autosomal recessive osteopetrosis 6"],[17737,"Intermediate severe Salla disease"],[6806,"Intermediate uveitis","IU"],[1521,"intermittent explosive disorder"],[18015,"Intermittent hydrarthrosis"],[17053,"Intermittent maple syrup urine disease","Intermittent BCKD deficiency","Intermittent MSUD","Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency"],[1512,"intermittent proptosis"],[2152,"intermittent squint"],[20048,"Internal carotid absence","internal carotid agenesis"],[24302,"internal hirudiniasis"],[3417,"internuclear ophthalmoplegia"],[700052,"intersphincteric abscess"],[18301,"Interstitial cystitis","Bladder pain syndrome","IC/BPS","IC/PBS","Interstitial cystitis/bladder pain syndrome","Interstitial cystitis/painful bladder syndrome","Painful bladder syndrome"],[923,"interstitial emphysema"],[19199,"Interstitial granulomatous dermatitis with arthritis","Ackerman dermatitis syndrome","Ackerman syndrome","IGDA"],[15925,"interstitial lung disease"],[12582,"Interstitial lung disease due to ABCA3 deficiency","Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency"],[18603,"Interstitial lung disease due to SP-C deficiency","Interstitial lung disease due to surfactant protein C deficiency","SFTPC-related interstitial lung disease"],[100215,"Interstitial lung disease-brain calcification syndrome","Brain calcification, Rajab type","Developmental delay-brain calcification-interstitial lung disease syndrome","Interstitial lung disease-brain calcification syndrome, Rajab type","Rajab interstitial lung disease with brain calcifications 1"],[13881,"Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome","ILNEB syndrome","JEB with interstitial lung disease and nephrotic syndrome","Junctional epidermolysis bullosa with interstitial lung disease and nephrotic syndrome","epidermolysis bullosa, junctional 7, with interstitial lung disease and nephrotic syndrome"],[1085,"interstitial nephritis"],[1742,"interval angle-closure glaucoma"],[7112,"Interventricular septum aneurysm"],[15805,"Intestinal botulism","Intestinal colonization botulism","Intestinal toxemia botulism","Intestinal toxin-mediated botulism"],[916,"intestinal infectious disease"],[13843,"Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency","Meconium ileus due to guanylate cyclase 2C deficiency"],[1678,"intestinal tuberculosis"],[4570,"intestinal volvulus"],[2337,"intra-abdominal hemangioma"],[2328,"intracranial hemangioma"],[6811,"intracranial hypotension"],[15295,"Intractable diarrhea-choanal atresia-eye anomalies syndrome"],[4285,"Intraductal papillary mucinous carcinoma of pancreas","IPMN","Pancreatic intraductal papillary mucinous carcinoma","pancreatic intraductal papillary-mucinous carcinoma"],[34987,"Intraductal tubulopapillary neoplasm of pancreas","ITPN"],[3210,"intrahepatic cholangiocarcinoma"],[100429,"Intrahepatic cholestasis of pregnancy","Gravidic intrahepatic cholestasis","Pregnancy-related cholestasis","Recurrent intrahepatic cholestasis of pregnancy"],[17245,"Intralobar congenital pulmonary sequestration","Congenital intrapulmonary sequestration","Intralobar congenital bronchopulmonary sequestration"],[958075,"Intramedullary non-dysraphic spinal cord lipoma"],[15032,"Intraneural perineurioma"],[17050,"Intraocular medulloepithelioma","Orbital medulloepithelioma"],[41775,"intraoperative floppy iris syndrome"],[971111,"Intraoral basal cell carcinoma","Basal cell carcinoma of the buccal mucosa","Basal cell carcinoma of the oral cavity","IOBCC intramucosal basal cell carcinoma"],[34991,"Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome"],[18573,"Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome"],[14948,"Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome","ARCN1-related syndrome","short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay"],[20324,"Intravascular large B-cell lymphoma","Angioendotheliomatosis proliferans systemisata","Angiotropic large cell lymphoma","Intravascular lymphomatosis","Malignant angioendotheliomatosis","Tappeiner-Pfleger disease"],[43349,"Intravascular papillary endothelial hyperplasia","IPEH","Masson's haemangioma","Masson's hemangioma","Masson's tumor","Masson's vegetant intravascular hemangiendothelioma","Reactive papillary endothelial hyperplasia","Vegetant intravascular hemangioendothelioma"],[7835,"intussusception"],[44067,"Invasive candidiasis","Disseminated candidiasis","Systemic candidiasis","candidiasis, invasive"],[20549,"Invasive mole","invasive hydatidiform mole"],[17944,"Invasive non-typhoidal salmonellosis","Invasive non-typhoidal salmonella disease","iNTS disease"],[859004,"Invasive scopulariopsis infection"],[20362,"Inverse Marcus-Gunn phenomenon"],[18027,"Inverted duplicated chromosome 15 syndrome","Duplication/inversion 15q11","Inv dup (15) syndrome","Isodicentric chromosome 15 syndrome","Non-distal tetrasomy 15q","Non-telomeric tetrasomy 15q","idic (15) syndrome"],[60759,"IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome","neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures"],[8788,"IRIDA syndrome","Iron-refractory iron deficiency anemia"],[18988,"Iridocorneal endothelial syndrome","ICE syndrome"],[4773,"iridocyclitis"],[1356,"iron deficiency anemia"],[2279,"iron metabolism disease"],[1831,"irregular astigmatism"],[5052,"irritable bowel syndrome"],[6564,"irritant dermatitis"],[16205,"IRVAN syndrome","Idiopathic retinal vasculitis-aneurysms-neuroretinitis syndrome"],[19399,"Isaacs syndrome","Continuous muscle fiber activity syndrome","Isaacs-Mertens syndrome","Quantal squander syndrome","Isaac syndrome"],[12648,"Isobutyryl-CoA dehydrogenase deficiency","Isobutyric aciduria"],[20304,"Isochromosomy Yp syndrome","isochromosomy Yp"],[20305,"Isochromosomy Yq syndrome","isochromosomy Yq"],[17443,"Isolated absence of both forearm and hand","congenital absence of both forearm and hand"],[17444,"Isolated absence of both lower leg and foot","congenital absence of both lower leg and foot"],[17442,"Isolated absence of thigh and lower leg with foot present","congenital absence of thigh and lower leg with foot present"],[17441,"Isolated absence of upper arm and forearm with hand present","Isolated congenital humero-radio-ulnar intercalary transverse meromelia","congenital absence of upper arm and forearm with hand present"],[7062,"Isolated absence/hypoplasia of fingers excluding thumb, unilateral","Isolated congenital adactyly of hand, unilateral","Isolated digits 2-5 hypodactyly, unilateral","Isolated digits 2-5 oligodactyly, unilateral","adactylia, unilateral"],[17445,"Isolated acheiria","acheiria"],[8700,"Isolated acheiropodia","Isolated acheiropody","acheiropody"],[7642,"Isolated agenesis of gallbladder"],[17438,"Isolated amelia of lower limb","Isolated congenital absence of lower limb","amelia of lower limb"],[17437,"Isolated amelia of upper limb","Isolated congenital absence of upper limb","amelia of upper limb"],[17088,"Isolated amyelia"],[978312,"Isolated anal canal duplication","ACD"],[35401,"Isolated anencephaly"],[8791,"Isolated anencephaly/exencephaly","anencephaly 1"],[971126,"Isolated angioid streaks"],[7119,"Isolated aniridia"],[19626,"Isolated ankyloblepharon filiforme adnatum"],[979257,"Isolated anogenital granulomatosis","AGG"],[10887,"Isolated anterior cervical hypertrichosis","Hairy throat syndrome","Tsukahara-Kajii syndrome"],[17446,"Isolated apodia","apodia"],[968959,"Isolated arhinencephaly"],[15237,"Isolated arrhinia","Isolated nose agenesis","arrhinia"],[16103,"Isolated asymptomatic elevation of creatine phosphokinase","Idiopathic asymptomatic hyperCKemia","Isolated asymptomatic hyperCKemia"],[14471,"Isolated ATP synthase deficiency","Isolated mitochondrial respiratory chain complex V deficiency","mitochondrial proton-transporting ATP synthase complex deficiency"],[15281,"Isolated atrial standstill","Isolated atrial cardiomyopathy with heart block","atrial standstill"],[16048,"Isolated autosomal dominant hypomagnesemia, Glaudemans type"],[17113,"Isolated bilateral hemispheric cerebellar hypoplasia"],[8867,"Isolated biliary atresia","Isolated atresia of bile ducts","Non-syndromic biliary atresia","biliary atresia"],[33809,"Isolated blepharochalasis"],[15558,"Isolated bone marrow mastocytosis"],[8939,"Isolated cerebellar agenesis","Near total absence of cerebellum","Subtotal absence of cerebellum","isolated cerebellar hypoplasia/agenesis"],[17107,"Isolated cerebellar vermis agenesis"],[16053,"Isolated cerebellar vermis hypoplasia"],[11184,"Isolated childhood apraxia of speech","Isolated CAS","Isolated developmental verbal dyspraxia","Pure CAS","Pure childhood apraxia of speech","Speech and language disorder with orofacial dyspraxia","Speech-language disorder type 1","childhood apraxia of speech"],[16043,"Isolated cleft lip"],[170,"Isolated colobomatous microphthalmia","Isolated microphthalmia with colobomatous cyst","microphthalmia, isolated, with coloboma"],[971084,"Isolated colonic duplication","Isolated duplication of the colon","colonic duplication"],[5514,"Isolated complete colobomatous microphthalmia","Nanophthalmos","Nanophthalmia"],[100133,"Isolated complex I deficiency","mitochondrial complex I deficiency"],[15448,"Isolated complex III deficiency","Isolated CoQ-cytochrome C reductase deficiency","Isolated coenzyme Q-cytochrome C reductase deficiency","Isolated mitochondrial respiratory chain complex III deficiency","Isolated ubiquinone-cytochrome C reductase deficiency","mitochondrial complex III deficiency"],[7619,"Isolated congenital adermatoglyphia","Congenital absence of fingerprints","Immigration delay disease"],[35410,"Isolated congenital aglossia"],[19627,"Isolated congenital alacrima"],[19211,"Isolated congenital anonychia","Isolated anonychia"],[7137,"Isolated congenital anosmia"],[15570,"Isolated congenital auditory ossicle malformation","Congenital auditory ossicle malformation without external ear abnormality"],[15855,"Isolated congenital breast hypoplasia/aplasia","Isolated congenital amastia"],[975902,"Isolated congenital cholesteatoma of the middle ear","CCME","CMEC","Congenital middle ear cholesteatoma"],[20463,"Isolated congenital ectropion"],[34971,"Isolated congenital entropion"],[971109,"Isolated congenital femoral bifurcation","Isolated congenital distal femoral duplication"],[18840,"Isolated congenital hepatic fibrosis","Isolated CHF"],[35411,"Isolated congenital hypoglossia"],[13003,"Isolated congenital hypoglossia/aglossia"],[16553,"Isolated congenital hypogonadotropic hypogonadism","Gonadotropic deficiency","Isolated congenital gonadotropin deficiency","Isolated gonadotropin-releasing hormone deficiency"],[7880,"Isolated congenital laryngeal web","congenital laryngeal web"],[19171,"Isolated congenital long QT syndrome","Romano-Ward long QT syndrome","Isolated congenital LQTS","familial long QT syndrome"],[10649,"Isolated congenital megalocornea","Congenital anterior megalophthalmia"],[16056,"Isolated congenital microcephaly"],[15568,"Isolated congenital nasal pyriform aperture stenosis","Isolated apertura pyriformis stenosis","Isolated nasal pyriform aperture hypoplasia"],[11595,"Isolated congenital onychodysplasia","COIF","COIF syndrome","Congenital onychodysplasia of the index fingers","Iso-Kikuchi syndrome","nonsyndromic congenital nail disorder 7"],[17469,"Isolated congenital radial head dislocation","Isolated congenital elbow dislocation","congenital elbow dislocation"],[19629,"Isolated congenital sclerocornea","sclerocornea"],[15409,"Isolated congenital syngnathia","Isolated congenital maxillomandibular fusion"],[16302,"Isolated congenitally uncorrected transposition of the great arteries","Isolated congenitally uncorrected transposition of the great vessels"],[9022,"Isolated corpus callosum agenesis","corpus callosum, agenesis of"],[7410,"Isolated cryptophthalmia"],[33885,"Isolated cytochrome C oxidase deficiency","Isolated COX deficiency","Isolated mitochondrial respiratory chain complex IV deficiency","mitochondrial complex IV deficiency, nuclear-type"],[9072,"Isolated Dandy-Walker malformation","Dandy-Walker syndrome"],[16630,"Isolated delta-storage pool disease","Isolated delta-SPD","Isolated dense-SPD","Isolated dense-storage pool disease"],[15384,"Isolated digestive duplication cyst of the tongue","Enteric duplication cyst of the tongue","Foregut duplication cyst of the tongue","Gastric duplication cyst of the tongue","digestive duplication cyst of the tongue"],[8509,"Isolated distal symphalangism","distal symphalangism"],[7464,"Isolated distichiasis","obsolete isolated distichiasis"],[978306,"Isolated duodenal duplication","Isolated duplication of the duodenum"],[15998,"Isolated ectopia lentis","Ectopia lentis syndrome","Familial ectopia lentis"],[16057,"Isolated encephalocele"],[19759,"Isolated epispadias","epispadias"],[15050,"Isolated esophageal duplication cyst","esophageal duplication cyst"],[35402,"Isolated exencephaly"],[16373,"isolated facial myokymia"],[7958,"Isolated familial medullary thyroid carcinoma","Hereditary isolated MTC","Isolated familial MTC","familial medullary thyroid carcinoma"],[35821,"Isolated female hypospadias"],[16032,"Isolated femoral agenesis/hypoplasia","femoral agenesis/hypoplasia"],[19672,"Isolated fibular hemimelia","Isolated congenital longitudinal deficiency of the fibula","Isolated fibular deficiency","Isolated fibular longitudinal meromelia","fibular hemimelia"],[958347,"Isolated filum lipoma","Lipoma of the filum terminale"],[19009,"Isolated focal cortical dysplasia","Epilepsy due to FCD"],[17095,"Isolated focal cortical dysplasia type I","FCD type I"],[17096,"Isolated focal cortical dysplasia type Ia","FCD type Ia"],[17097,"Isolated focal cortical dysplasia type Ib","FCD type Ib"],[17098,"Isolated focal cortical dysplasia type Ic","FCD type Ic"],[11818,"Isolated focal cortical dysplasia type II","Cortical dysplasia, Taylor type","FCD type II","Isolated focal cortical dysplasia type 2"],[17101,"Isolated focal cortical dysplasia type IIa","FCD type IIa"],[17102,"Isolated focal cortical dysplasia type IIb","FCD type IIb"],[14622,"Isolated focal non-epidermolytic palmoplantar keratoderma"],[9239,"Isolated follicle stimulating hormone deficiency","Isolated FSH deficiency","hypogonadotropic hypogonadism 24 without anosmia"],[34978,"Isolated foveal hypoplasia"],[971083,"Isolated gallbladder duplication","gallbladder duplication"],[971082,"Isolated gastric duplication","Isolated stomach duplication","gastric duplication"],[7118,"Isolated generalized anhidrosis with normal sweat glands","isolated anhidrosis with normal sweat glands"],[18459,"Isolated glycerol kinase deficiency","Hyperglycerolemia"],[9876,"Isolated growth hormone deficiency type IA","Congenital IGHD type IA","Congenital isolated GH deficiency type IA","Congenital isolated growth hormone deficiency type IA"],[13006,"Isolated growth hormone deficiency type IB","Congenital IGHD type IB","Congenital isolated GH deficiency type IB","Congenital isolated growth hormone deficiency type IB"],[8250,"Isolated growth hormone deficiency type II","Congenital IGHD type II","Congenital isolated GH deficiency type II","Congenital isolated growth hormone deficiency type II"],[10615,"Isolated growth hormone deficiency type III","Congenital IGHD type III","Congenital isolated GH deficiency type III","Congenital isolated growth hormone deficiency type III","X-linked IGHD","X-linked isolated growth hormone deficiency"],[32567,"Isolated growth hormone deficiency type IV","isolated growth hormone deficiency, type 4"],[9331,"Isolated hemihyperplasia","Hemi 3 syndrome","Hemicorporal hypertrophy","Isolated hemihypertrophy"],[11090,"Isolated hereditary congenital facial paralysis"],[17440,"Isolated humeral agenesis/hypoplasia","Isolated congenital absence of humerus","Isolated congenital humeral deficiency","Isolated congenital hypoplasia of humerus","Isolated humeral intercalary meromelia","humeral agenesis/hypoplasia"],[7737,"Isolated humero-radial synostosis","humeroradial synostosis"],[17983,"Isolated humero-radio-ulnar synostosis","humero-radio-ulnar synostosis"],[19782,"Isolated humero-ulnar synostosis","Isolated congenital humeroulnar fusion","humero-ulnar synostosis"],[7747,"Isolated hyperchlorhidrosis","Carbonic anhydrase XII deficiency"],[17455,"Isolated hyperphalangy","hyperphalangy"],[17447,"Isolated hypoplasia of thumb","obsolete congenital absence/hypoplasia of thumb"],[17256,"Isolated idiopathic anterior uveitis","Isolated IAU","idiopathic anterior uveitis"],[33810,"Isolated iridoschisis"],[18772,"Isolated Joubert syndrome","CPD IV","Cerebelloparenchymal disorder IV","Classic Joubert syndrome","Joubert syndrome type A","Joubert-Boltshauser syndrome","Pure Joubert syndrome","Joubert syndrome"],[1029,"Isolated Klippel-Feil syndrome","Congenital cervical vertebral fusion","Congenital fused cervical segments","Klippel-Feil malformation","Klippel-Feil sequence","Klippel-Feil syndrome"],[958269,"Isolated left bronchial isomerism","Left bronchial isomerism without heterotaxy"],[15205,"Isolated lissencephaly type 1 without known genetic defects"],[15382,"Isolated lower lip fistula","Isolated lower lip pits","Non-syndromic familial congenital lower lip pits","lower lip fistula"],[18720,"Isolated lymphatic malformation","Common cystic lymphatic malformation","obsolete common cystic lymphatic malformation"],[17089,"Isolated megalencephaly"],[34980,"Isolated megalopapilla","obsolete isolated megalopapilla"],[35136,"Isolated melanotic schwannoma","Isolated melanocytic schwannoma"],[35009,"Isolated mesenteric vein thrombosis"],[958263,"Isolated micronodular adrenocortical disease","i-MAD"],[34977,"Isolated microspherophakia","obsolete isolated microspherophakia"],[9465,"Isolated multiple intestinal atresia","multiple intestinal atresia"],[7343,"Isolated nail clubbing","Isolated congenital acropachy","Isolated congenital digital clubbing"],[18816,"Isolated neonatal sclerosing cholangitis"],[16202,"Isolated ocular Stickler syndrome","Autosomal dominant rhegmatogenous retinal detachment"],[958342,"Isolated optic nerve aplasia"],[8136,"Isolated optic nerve hypoplasia"],[44688,"Isolated optic neuritis"],[15634,"Isolated osteopoikilosis"],[17109,"Isolated partial cerebellar vermis agenesis"],[19932,"Isolated partial vaginal agenesis","Congenital absence of vagina"],[8205,"Isolated patella aplasia/hypoplasia","PTLAH","patella aplasia/hypoplasia"],[100164,"Isolated permanent neonatal diabetes mellitus","Isolated PNDM","permanent neonatal diabetes mellitus"],[957476,"Isolated persistent urogenital sinus","Isolated PUGS"],[9869,"Isolated Pierre Robin sequence","PRS","isolated Pierre-Robin syndrome"],[447,"Isolated polycystic liver disease","ADPCLD","Autosomal dominant polycystic liver disease","PCLD"],[17076,"Isolated posterior meningocele","posterior meningocele"],[958262,"Isolated primary pigmented nodular adrenocortical disease","Isolated PPNAD","i-PPNAD"],[859006,"Isolated proximal femoral focal deficiency","CPFD","Isolated congenital proximal femoral deficiency","PFFD","proximal femoral focal deficiency"],[15525,"Isolated pseudoarthrosis of the limbs","Congenital pseudoarthrosis of the limbs","Isolated congenital pseudarthrosis of the limbs"],[958123,"Isolated pulmonary artery sling","Isolated anomalous left pulmonary artery","Isolated left pulmonary artery sling","LPA","PAS"],[17018,"Isolated pulmonary capillaritis"],[971085,"Isolated pyloric duplication","Congenital isolated double pylorus","Isolated duplication cyst of the pyloric canal","Isolated duplication cyst of the pylorus","pyloric duplication"],[19671,"Isolated radial hemimelia","Isolated congenital longitudinal deficiency of the radius","Isolated radial club hand","Isolated radial longitidinal meromelia","Isolated radial ray agenesis","radial hemimelia"],[17985,"Isolated radio-ulnar synostosis","congenital radioulnar synostosis"],[15734,"Isolated rectal duplication","rectal duplication"],[971123,"Isolated retinal racemose hemangioma","Isolated retinal arteriovenous aneurysm 3","Isolated retinal racemose haemangioma","RRH"],[18946,"Isolated rhombencephalosynapsis","rhombencephalosynapsis"],[10179,"Isolated right ventricular hypoplasia"],[14969,"Isolated sedoheptulokinase deficiency","Isolated SHPK deficiency"],[971133,"Isolated segmental infantile hemangioma","Isolated segmental infantile haemangioma","Large segmental haemangioma","Large segmental hemangioma","Segmental haemangioma of infancy","Segmental hemangioma of infancy"],[971086,"Isolated small intestine duplication","small intestine duplication"],[35008,"Isolated splenic vein thrombosis"],[18703,"Isolated splenogonadal fusion","SGF"],[16576,"Isolated split hand-split foot malformation","split hand-foot malformation"],[44355,"Isolated sternocostoclavicular hyperostosis","Isolated SCCH"],[100294,"Isolated succinate-CoQ reductase deficiency","Isolated mitochondrial respiratory chain complex II deficiency","Isolated succinate dehydrogenase deficiency","Isolated succinate-coenzyme Q reductase deficiency","Isolated succinate-ubiquinone reductase deficiency","mitochondrial complex II deficiency, nuclear type 1"],[10089,"Isolated sulfite oxidase deficiency","ISOD","Sulfocysteinuria"],[17439,"Isolated tetra-amelia","Isolated total amelia","tetra-amelia"],[10139,"Isolated thyroid-stimulating hormone deficiency","Isolated TSH deficiency","Isolated thyrotropin deficiency"],[10140,"Isolated thyrotropin-releasing hormone deficiency","Isolated TRF deficiency","Isolated TRH deficiency","Isolated TSH-releasing factor deficiency","Isolated prothyroliberin deficiency","Isolated protirelin deficiency","Isolated thyroliberin deficiency","Isolated thyrotropin-releasing factor deficiency"],[10144,"Isolated tibial hemimelia","Isolated congenital absence of tibia","Isolated congenital aplasia and dysplasia of the tibia with intact fibula","Isolated congenital longitudinal deficiency of the tibia","Isolated tibial longitudinal meromelia","tibial hemimelia"],[17467,"Isolated tibio-fibular synostosis","Isolated congenital tibiofibular fusion","tibio-fibular synostosis"],[17108,"Isolated total cerebellar vermis agenesis"],[18694,"Isolated tracheoesophageal fistula","H-type tracheoesophageal fistula","isolated tracheo-esophageal fistula"],[958346,"Isolated transitional filum lipoma"],[15051,"Isolated tubular duplication of the esophagus","tubular duplication of the esophagus"],[19670,"Isolated ulnar hemimelia","Isolated congenital longitudinal deficiency of the ulna","Isolated ulnar clubhand","Isolated ulnar deficiency of forearm","Isolated ulnar longitudinal meromelia","ulnar hemimelia"],[17112,"Isolated unilateral hemispheric cerebellar hypoplasia/dysplasia","isolated unilateral hemispheric cerebellar hypoplasia"],[18769,"Isosporiasis","Cystoisosporiasis"],[16467,"Isotretinoin syndrome","Isotretinoin embryopathy","Retinoic acid embryopathy","Retinoids embryopathy"],[9473,"Isotretinoin-like syndrome","Kawashima syndrome","Microtia-aortic arch syndrome"],[9475,"Isovaleric acidemia","Isovaleric acid CoA dehydrogenase deficiency"],[14474,"ISPD-related limb-girdle muscular dystrophy R20","autosomal recessive limb-girdle muscular dystrophy type 2U"],[18591,"ITM2B amyloidosis","Familial cerebral amyloid angiopathy","ITM2B-related amyloidosis","ITM2B-related cerebral amyloid angiopathy"],[14719,"ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement","Martsolf-like syndrome","developmental and epileptic encephalopathy, 35"],[7836,"IVIC syndrome","Oculo-oto-radial syndrome","Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia"],[7400,"Jackson-Weiss syndrome","Craniosynostosis-midfacial hypoplasia-foot abnormalities syndrome","JWS"],[7838,"Jacobsen syndrome","11q terminal deletion syndrome","Chromosome 11q deletion syndrome","Del(11)(q23.3)","Del(11)(qter)","Distal deletion 11q","Distal monosomy 11q","Monosomy 11qter","Telomeric deletion 11q"],[9007,"Jalili syndrome","Cone rod dystrophy-amelogenesis imperfecta syndrome"],[44318,"Jansen-de Vries syndrome","Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome","JDVS","intellectual developmental disorder with gastrointestinal difficulties and high pain threshold"],[19209,"Japanese encephalitis"],[9622,"Jawad syndrome"],[6815,"jejunal cancer"],[2441,"Jervell and Lange-Nielsen syndrome","Long QT interval-deafness syndrome","Long QT interval-hearing loss syndrome"],[18051,"Jessner lymphocytic infiltration of the skin","Jessner-Kanof lymphocytic infiltration of the skin"],[18770,"Jeune syndrome","Asphyxiating thoracic dystrophy of the newborn","JATD","Jeune asphyxiating thoracic dystrophy"],[9479,"Johanson-Blizzard syndrome","JBS"],[7837,"Johnson neuroectodermal syndrome","Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome","Alopecia-anosmia-deafness-hypogonadism syndrome","Johnson-McMillin syndrome"],[100349,"Joubert syndrome with hepatic defect","COACH syndrome","Cerebellar vermis hypoplasia-oligophrenia-congenital ataxia-coloboma-hepatic fibrosis","Gentile syndrome","JS-H","Joubert syndrome with congenital hepatic fibrosis"],[18342,"Joubert syndrome with Jeune asphyxiating thoracic dystrophy","JBTS with JATD","Joubert syndrome with JATD"],[16364,"Joubert syndrome with ocular anomaly","Joubert syndrome with ocular defect"],[9480,"Joubert syndrome with oculorenal defect","Arima syndrome","CORS","Cerebellooculorenal syndrome","Dekaban-Arima syndrome","JS type B","JS-OR","Joubert syndrome with Senior-Loken syndrome"],[12308,"Joubert syndrome with renal defect","JS-R"],[8992,"Juberg-Hayward syndrome","Cleft lip/palate-abnormal thumbs-microcephaly syndrome","Orocraniodigital syndrome"],[19308,"Junctional epidermolysis bullosa inversa","JEB inversa","JEB-I"],[9183,"Junctional epidermolysis bullosa with pyloric atresia","Carmi syndrome","JEB with pyloric atresia","JEB-PA"],[11078,"Jung syndrome","anterior chamber cleavage disorder, cerebellar hypoplasia, hypothyroidism, and tracheal stenosis"],[800453,"Juvenile absence epilepsy","JAE"],[17593,"Juvenile amyotrophic lateral sclerosis","JALS","Juvenile Charcot disease","Juvenile Lou Gehrig disease"],[20655,"juvenile ankylosing spondylitis"],[12786,"Juvenile cataract-microcornea-renal glucosuria syndrome","Juvenile cataract-microcornea-renal glycosuria syndrome"],[8054,"Juvenile dermatomyositis","Juvenile DM"],[20367,"Juvenile glaucoma","juvenile open angle glaucoma"],[16621,"Juvenile Huntington disease","JHD","Juvenile Huntington chorea"],[16071,"Juvenile hyaline fibromatosis","Murray-Puretic-Drescher syndrome","Puretic syndrome"],[100076,"juvenile idiopathic scoliosis"],[18325,"Juvenile myasthenia gravis","Childhood myasthenia gravis","Juvenile acquired myasthenia","Juvenile autoimmune myasthenia gravis"],[11908,"Juvenile myelomonocytic leukemia","JMML","Juvenile chronic myelomonocytic leukemia"],[9696,"Juvenile myoclonic epilepsy"],[17340,"Juvenile nasopharyngeal angiofibroma","JNA"],[9728,"Juvenile nephronophthisis","nephronophthisis 1"],[9066,"Juvenile nephropathic cystinosis","Intermediate cystinosis","Juvenile cystinosis"],[15521,"Juvenile or adult CACH syndrome"],[18011,"Juvenile overlap myositis"],[9394,"Juvenile Paget disease","Familial osteoectasia","Hereditary hyperphosphatasia","Hyperostosis corticalis deformans juvenilis","JPG"],[19734,"Juvenile polymyositis","Juvenile PM"],[19190,"Juvenile polyposis of infancy","Infantile juvenile polyposis syndrome"],[17380,"Juvenile polyposis syndrome","JIP","JPS","Juvenile gastrointestinal polyposis","Juvenile intestinal polyposis"],[11663,"Juvenile primary lateral sclerosis","JPLS","Juvenile PLS"],[19681,"Juvenile sialidosis type 2"],[16848,"Juvenile temporal arteritis","JTA","Non-giant cell granulomatous temporal arteritis with eosinophilia"],[15534,"Juvenile xanthogranuloma","JXG"],[14523,"Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome","Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome","Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome"],[35648,"Juvenile-onset Steinert myotonic dystrophy","Juvenile-onset Steinert disease","Juvenile-onset myotonic dystrophy type 1"],[20431,"Juxtaposition of the atrial appendages","Juxtaposition of the atrial auricles"],[16512,"Kabuki syndrome","Kabuki make-up syndrome","Niikawa-Kuroki syndrome"],[16779,"Kagami-Ogata syndrome","KOS","multiple congenital anomalies due to 14q32.2 maternally expressed gene defect"],[16783,"Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation","maternal 14q32.2 hypermethylation syndrome"],[16781,"Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion","Maternal del(14)(q32.2)","Maternal monosomy 14q32.2","maternal 14q32.2 microdeletion syndrome"],[11975,"Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14","UPD(14)pat","paternal uniparental disomy of chromosome 14"],[18800,"Kallmann syndrome","Congenital hypogonadotropic hypogonadism with anosmia","Olfacto-genital pathological sequence"],[16515,"Kallmann syndrome-heart disease syndrome"],[9236,"Kandori fleck retina"],[5055,"Kaposi sarcoma","Kaposi's sarcoma"],[16236,"Kaposiform hemangioendothelioma"],[18736,"Kaposiform lymphangiomatosis"],[9483,"Kapur-Toriello syndrome","Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome"],[8466,"Karsch-Neugebauer syndrome","Split hand/split foot-nystagmus syndrome"],[13898,"Karyomegalic interstitial nephritis","KIN","Systemic karyomegaly"],[7708,"Kasabach-Merritt phenomenon","Haemangioma-thrombocytopenia syndrome","Hemangioma-thrombocytopenia syndrome","Kasabach-Merritt syndrome"],[14558,"KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome","Arboleda-Tham syndrome","KAT6A syndrome","autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome"],[12727,"Kawasaki disease","Mucocutaneous lymph node syndrome"],[7846,"KBG syndrome","ANKRD11-related disorder","Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome"],[13387,"KCNQ2-related developmental and epileptic encephalopathy","KCNQ2-DEE","developmental and epileptic encephalopathy, 7"],[858999,"KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome","Diets-Jongmans Syndrome"],[10355,"KDM5C-related syndromic X-linked intellectual disability","Claes-Jensen syndrome","syndromic X-linked intellectual disability Claes-Jensen type"],[10787,"Kearns-Sayre syndrome"],[9720,"Keipert syndrome","Nasodigitoacoustic syndrome"],[10735,"Kennedy disease","SBMA","SMAX1","X-linked BSMA","X-linked bulbospinal amyotrophy","X-linked bulbospinal muscular atrophy","X-linked spinal and bulbar muscular atrophy"],[16516,"Kenny-Caffey syndrome","Kenny syndrome"],[13572,"Keppen-Lubinsky syndrome","Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome"],[3085,"keratitis"],[7849,"Keratitis fugax hereditaria","KFH","Keratoendotheliitis fugax hereditaria"],[4768,"keratoconjunctivitis"],[15486,"keratoconus"],[18648,"Keratocystic odontogenic tumor","KTOC","Odontogenic keratocystoma"],[7422,"Keratoderma hereditarium mutilans","Mutilating keratoderma of Vohwinkel","Mutilating keratoderma plus deafness","Mutilating keratoderma plus hearing loss","PPK mutilans and deafness","PPK mutilans and hearing loss","Vohwinkel syndrome"],[11396,"Keratoderma hereditarium mutilans with ichthyosis","Camisa disease","Keratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndrome","Loricrin keratoderma","Vohwinkel syndrome with ichthyosis"],[7854,"Keratolytic winter erythema","Erythrokeratolysis hiemalis","Oudtshoorn disease"],[1250,"keratomalacia"],[136,"Keratosis follicularis spinulosa decalvans"],[10638,"Keratosis follicularis-dwarfism-cerebral atrophy syndrome"],[11169,"Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome","KLICK syndrome"],[7857,"Keratosis palmaris et plantaris-clinodactyly syndrome","Palmoplantar keratoderma-clinodactyly syndrome"],[10146,"Kerion celsi"],[6567,"kernicterus due to isoimmunization"],[17394,"Ketamine-induced biliary dilatation"],[14490,"Ketoacidosis due to monocarboxylate transporter-1 deficiency"],[9495,"Keutel syndrome","Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome"],[60631,"KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome","Alkuraya-Kucinskas syndrome"],[18781,"KID syndrome","Ichthyosis hystrix Rheydt type","KID/HID syndrome","Keratitis-ichthyosis-deafness/Hystrix-like ichthyosis-deafness syndrome","Keratitis-ichthyosis-hearing loss/Hystrix-like ichthyosis-hearing loss syndrome","Senter syndrome"],[2513,"kidney benign neoplasm"],[4841,"kidney hypertrophy"],[19130,"Kidney tubulopathy-dilated cardiomyopathy syndrome","tubular renal disease-cardiomyopathy syndrome"],[19967,"Kienbock disease","Aseptic necrosis of the lunate bone","Lunatomalacia","Osteochondrosis of the lunate bone","Progressive avascular necrosis of the lunate bone"],[18864,"Kikuchi-Fujimoto disease","Histiocytic necrotizing lymphadenitis","Kikuchi disease"],[18830,"Kimura disease","Eosinophilic lymphogranuloma"],[8260,"Kindler epidermolysis bullosa","Congenital bullous poikiloderma","Kindler syndrome","Poikiloderma of Kindler"],[20485,"King-Denborough syndrome","Koussef-Nichols syndrome"],[10044,"Kjellin syndrome","Autosomal recessive spastic paraplegia type 15","Hereditary spastic paraparesis type 15","SPG15","Spastic paraplegia-retinal degeneration syndrome","hereditary spastic paraplegia 15"],[30602,"Klebsiella pneumonia"],[12455,"Kleefstra syndrome"],[19896,"Kleefstra syndrome due to 9q34 microdeletion","9q subtelomeric deletion syndrome","9qSTDS","Kleefstra syndrome due to 9q subtelomeric deletion","Kleefstra syndrome due to del(9)(q34)","Kleefstra syndrome due to monosomy 9q34"],[16865,"Kleefstra syndrome due to a point mutation"],[7863,"Kleine-Levin syndrome"],[1520,"kleptomania"],[14890,"KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome","PERCHING syndrome"],[35823,"KLHL7-related Bohring-Opitz-like syndrome","KLHL7-related BOS-like syndrome"],[35824,"KLHL7-related Crisponi/cold-induced sweating-like syndrome","KLHL7-related Crisponi-like syndrome","KLHL7-related cold-induced sweating-like syndrome"],[18370,"KLHL9-related early-onset distal myopathy"],[14689,"Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome"],[5817,"Klüver-Bucy syndrome","Kluver-Bucy syndrome"],[7987,"Kniest dysplasia"],[800167,"Knobloch syndrome","Knobloch-Layer syndrome","Retinal detachment-occipital encephalocele syndrome","Knobloch syndrome 1"],[7865,"knuckle pads"],[7866,"Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome","Bart-Pumphrey syndrome","Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome","Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome","Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome"],[20415,"Kommerell diverticulum"],[12496,"Koolen-De Vries syndrome","KdVS"],[18217,"Koolen-De Vries syndrome due to a point mutation"],[14704,"Kosaki overgrowth syndrome","Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome"],[12548,"Kostmann syndrome","Infantile agranulocytosis","Severe congenital neutropenia type 3"],[16522,"Kousseff syndrome","Sacral meningocele-conotruncal heart defects syndrome"],[9499,"Krabbe disease","GALC deficiency","Galactocerebrosidase deficiency","Galactosylceramidase deficiency","Globoid cell leukodystrophy"],[10962,"KRT1-related diffuse nonepidermolytic keratoderma","KRT1-related diffuse NEPPK","diffuse nonepidermolytic palmoplantar keratoderma"],[11706,"Kufor-Rakeb syndrome","PARK9"],[3940,"Kummell disease"],[6825,"Kuru"],[15241,"Kuskokwim syndrome","Arthrogryposis-like syndrome","Kuskokwim disease"],[6826,"kwashiorkor"],[17881,"Kyasanur forest disease","Kyasanur hemorrhagic fever","Monkey disease","Monkey fever"],[8881,"Kyphomelic dysplasia"],[44648,"Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome","Kyphoscoliosis-lateral tongue atrophy-HSP syndrome"],[7770749,"Kyphoscoliotic Ehlers-Danlos syndrome","Ehlers-Danlos syndrome type 6","Kyphoscoliotic EDS","kEDS","EDS VI"],[13800,"Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency","Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness","Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss","FKBP14-related EDS","FKBP22-deficient EDS","Kyphoscoliotic EDS due to FKBP22 deficiency","kEDS-FKBP14","Ehlers-Danlos syndrome, kyphoscoliotic type, 2"],[16002,"Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency","Cutis hyperelastica","EDS VIA","Ehlers-Danlos syndrome type 6A","Kyphoscoliotic EDS due to lysyl hydroxylase 1 deficiency","Lysyl hydroxylase-deficient EDS","Ocular-scoliotic EDS","kEDS-PLOD1","Ehlers-Danlos syndrome, kyphoscoliotic type 1"],[1492,"kyphoscoliotic heart disease"],[44647,"Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome"],[7869,"Kyrle disease"],[9370,"L-2-hydroxyglutaric aciduria","L-2-HGA","L-2-hydroxyglutaric acidemia"],[12996,"L-Arginine:glycine amidinotransferase deficiency","AGAT deficiency"],[14274,"L-ferritin deficiency"],[17140,"L1 syndrome","CRASH syndrome","Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome","L1CAM syndrome"],[19378,"La Crosse encephalitis","Californian encephalitis"],[1526,"labia minora cancer"],[2008,"labyrinthitis"],[957,"lacrimal passage granuloma"],[7872,"Lacrimoauriculodentodigital syndrome","LADD syndrome","LARD syndrome","Lacrimoauriculoradiodental syndrome","Levy-Hollister syndrome"],[100345,"lactose intolerance"],[9697,"Lafora disease","EPM2","PME type 2","Progressive myoclonic epilepsy type 2","Progressive myoclonus epilepsy type 2"],[1604,"lagophthalmos"],[8050,"Laing distal myopathy","Distal myopathy type 1","MPD1","MYH7-related skeletal myopathy"],[33856,"LAMA5-related multisystemic syndrome"],[14778,"Lamb-Shaffer syndrome","SOX5 haploinsufficiency syndrome"],[9507,"Lambert syndrome","Branchial dysplasia-intellectual disability-inguinal hernia syndrome"],[18556,"Lambert-Eaton myasthenic syndrome"],[17778,"Lamellar ichthyosis","LI"],[11925,"Laminin subunit alpha 2-related congenital muscular dystrophy","congenital merosin-deficient muscular dystrophy 1A"],[29136,"Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23","LGMD type R23","Laminin subunit alpha 2-related LGMD R23","Laminin subunit alpha 2-related late-onset muscular dystrophy","muscular dystrophy, limb-girdle, autosomal recessive 23"],[9509,"Landau-Kleffner syndrome","Acquired epileptic aphasia","LKS"],[9588,"Langer mesomelic dysplasia","Mesomelic dwarfism, Langer type"],[18310,"Langerhans cell histiocytosis"],[19480,"Langerhans cell sarcoma"],[44792,"Large/giant congenital melanocytic nevus","LGCMN","Large/giant CMN syndrome","Large/giant congenital pigmented nevus","large congenital melanocytic nevus"],[9877,"Laron syndrome","Complete growth hormone insensitivity","GH receptor deficiency","Growth hormone receptor deficiency","Laron-type dwarfism","Primary GH insensitivity","Primary GH resistance","Primary growth hormone insensitivity","Primary growth hormone resistance","Short stature due to growth hormone resistance"],[100211,"Laron syndrome with immunodeficiency","Laron-like syndrome","Short stature due to STAT5b deficiency","growth hormone insensitivity with immune dysregulation 1, autosomal recessive"],[7875,"Larsen syndrome"],[12055,"Larsen-like osseous dysplasia-short stature syndrome"],[9511,"Larsen-like syndrome, B3GAT3 type","Multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome"],[7876,"Laryngeal abductor paralysis","Familial vocal cord dysfunction","Gerhardt syndrome"],[10639,"Laryngeal abductor paralysis-intellectual disability syndrome","Plott syndrome"],[1691,"laryngeal cartilage cancer"],[20863,"laryngeal diphtheria"],[15070,"Laryngeal neuroendocrine tumor","laryngeal neuroendocrine neoplasm"],[9513,"Laryngo-onycho-cutaneous syndrome","LOC syndrome","LOGIC syndrome","Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome","Shabbir syndrome"],[16530,"Laryngocele"],[1305,"laryngostenosis"],[16060,"Laryngotracheoesophageal cleft","LC","LTEC","Laryngo-tracheo-esophageal cleft","Laryngo-tracheo-esophageal diastema"],[17220,"Laryngotracheoesophageal cleft type 0","LTEC0","Laryngo-tracheo-esophageal cleft type 0"],[19761,"Laryngotracheoesophageal cleft type 1","LTEC I","LTEC1","Laryngo-tracheo-esophageal cleft type 1"],[19762,"Laryngotracheoesophageal cleft type 2","LTEC II","LTEC2","Laryngo-tracheo-esophageal cleft type 2"],[19763,"Laryngotracheoesophageal cleft type 3","LTEC III","LTEC3","Laryngo-tracheo-esophageal cleft type 3"],[19764,"Laryngotracheoesophageal cleft type 4","LTEC IV","LTEC4","Laryngo-tracheo-esophageal cleft type 4"],[15504,"Larynx anomaly","obsolete larynx anomaly"],[7879,"Larynx atresia"],[2352,"larynx cancer"],[4696,"larynx carcinoma in situ"],[5820,"Lassa fever","LF","Lassa hemorrhagic fever"],[15520,"Late infantile CACH syndrome"],[1066,"late yaws"],[16090,"Late-infantile/juvenile Krabbe disease","Krabbe disease, late-onset"],[16601,"Late-onset citrullinemia type I","Late-onset citrullinemia type 1","adult-onset citrullinemia type I"],[11864,"Late-onset combined immunodeficiency due to ICOS deficiency","Late-onset CID due to ICOS deficiency","Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency","immunodeficiency, common variable, 1"],[979290,"Late-onset combined immunodeficiency due to ICOSL deficiency","Late-onset CID due to ICOSL deficiency","Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency"],[12277,"Late-onset distal myopathy, Markesbery-Griggs type","ZASP-related myofibrillar myopathy","myofibrillar myopathy 4"],[35321,"Late-onset familial hypoaldosteronism","Late-onset familial hyperreninemic hypoaldosteronism","Mild aldosterone synthase deficiency"],[16437,"Late-onset focal dermal elastosis","PXE-like late-onset focal dermal elastosis","Pseudoxanthoma-like late-onset focal dermal elastosis"],[16042,"Late-onset isolated ACTH deficiency"],[19309,"Late-onset junctional epidermolysis bullosa","Epidermolysis bullosa progressiva","JEB-lo","Late-onset JEB"],[9177,"Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome","Late-onset localized JEB-intellectual disability syndrome"],[19742,"Late-onset nephronophthisis"],[11579,"Late-onset retinal degeneration","Autosomal dominant late-onset retinal degeneration","LORD"],[35650,"Late-onset Steinert myotonic dystrophy","Late-onset Steinert disease","Late-onset myotonic dystrophy type 1"],[40925,"latent yaws"],[1885,"lateral cystocele"],[7537,"Lateral meningocele syndrome","Lehman syndrome"],[11816,"Lathosterolosis","Sterol C5-desaturase deficiency"],[4686,"lattice corneal dystrophy"],[7380,"Lattice corneal dystrophy type I","Biber-Haab-Dimmer dystrophy","Classic lattice corneal dystrophy","LCD1","LCDI","Lattice corneal dystrophy type 1"],[20427,"Laubry-Pezzi syndrome","VSD with aortic insufficiency","Ventricular septal defect with aortic insufficiency"],[9514,"Laurence-Moon syndrome","LMS"],[7615,"Laurin-Sandrow syndrome","Mirror hands and feets-nasal defects syndrome","Sandrow syndrome"],[18999,"LCAT deficiency","Lecithin-cholesterol acyltransferase deficiency"],[18019,"Lead poisoning","Lead intoxication","Plumbism","Saturnism"],[18998,"Leber congenital amaurosis","Amaurosis congenita of Leber"],[10788,"Leber hereditary optic neuropathy","LHON","Leber optic atrophy"],[20478,"Leber plus disease","LHON plus disease"],[4684,"Ledderhose disease","Plantar fibromatosis"],[35451,"Left isomerism","LAI","Left atrial isomerism","obsolete left sided atrial isomerism"],[18901,"Left ventricular noncompaction","Spongy myocardium","LVNC","Left ventricular hypertrabeculation"],[7885,"Legg-Calvé-Perthes disease","Aseptic necrosis of the capital femoral epiphysis","Osteochondrosis of the capital femoral epiphysis","Perthes disease","Legg-Calve-Perthes disease"],[5823,"Legionella infection","Legionellosis"],[5824,"Legionnaires disease","Legionnaires' disease"],[12669,"Legius syndrome","NF1-like syndrome","Neurofibromatosis 1-like syndrome","Nonmosaic LGSS","Nonmosaic Legius syndrome"],[9723,"Leigh syndrome"],[5058,"Leiomyosarcoma"],[3360,"Leiomyosarcoma of small intestine","small intestine leiomyosarcoma"],[16283,"Leiomyosarcoma of the cervix uteri","Cervical leiomyosarcoma"],[16262,"Leiomyosarcoma of the corpus uteri"],[11989,"Leishmaniasis"],[12008,"Lelis syndrome","Ectodermal dysplasia-acanthosis nigricans syndrome"],[15306,"Lemierre syndrome","Lemierre postanginal sepsis","Postanginal sepsis secondary to orophyngeal infection","Septic phlebitis of the internal jugular vein"],[16532,"Lennox-Gastaut syndrome"],[1176,"lens disorder"],[1271,"lens subluxation"],[4775,"lens-induced iridocyclitis"],[7892,"Lenz-Majewski hyperostotic dysplasia","Lenz-Majewski hyperostotic dwarfism","Lenz-Majewski syndrome"],[5127,"lepromatous leprosy"],[5124,"Leprosy"],[5825,"Leptospirosis"],[7894,"Leri pleonosteosis"],[10298,"Lesch-Nyhan syndrome","HPRT complete deficiency","HPRT deficiency grade IV","Hypoxanthine guanine phosphoribosyltransferase complete deficiency","Hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV"],[1543,"lesion of sciatic nerve"],[12323,"Lethal acantholytic erosive disorder","lethal acantholytic epidermolysis bullosa"],[17818,"Lethal arteriopathy syndrome due to fibulin-4 deficiency"],[10533,"Lethal ataxia with deafness and optic atrophy","Arts syndrome","Lethal ataxia with hearing loss and optic atrophy"],[35581,"Lethal brain and heart developmental defects","obsolete lethal brain and heart developmental defects"],[9670,"Lethal congenital contracture syndrome type 1","Herva disease","LCCS1","Multiple contracture syndrome, Finnish type","lethal congenital contracture syndrome 1"],[11868,"Lethal congenital contracture syndrome type 2","LCCS2","Multiple contracture syndrome, Israeli-Bedouin type","lethal congenital contracture syndrome 2"],[12656,"Lethal congenital contracture syndrome type 3","LCCS3","lethal congenital contracture syndrome 3"],[9204,"Lethal faciocardiomelic dysplasia"],[9477,"Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome","Stromme syndrome","Apple-peel intestinal atresia-ocular anomalies-microcephaly syndrome","Jejunal atresia-microcephaly-ocular anomalies syndrome"],[14552,"Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome"],[10891,"Lethal hemolytic anemia-genital anomalies syndrome","Water-West syndrome"],[18810,"Lethal hydranencephaly-diaphragmatic hernia syndrome"],[10792,"Lethal infantile mitochondrial myopathy","LIMD","LIMM","Lethal infantile mitochondrial disease"],[10610,"Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome","Morse-Rawnsley-Sargent syndrome","holoprosencephaly-hypokinesia-congenital contractures syndrome"],[9498,"Lethal Kniest-like dysplasia"],[9512,"Lethal Larsen-like syndrome"],[14976,"Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome"],[9668,"Lethal multiple pterygium syndrome","LMPS","Autosomal recessive lethal multiple pterygium syndrome"],[13784,"Lethal neonatal spasticity-epileptic encephalopathy syndrome","Lethal neonatal rigidity-multifocal seizure syndrome","neonatal-onset encephalopathy with rigidity and seizures"],[13740,"Lethal occipital encephalocele-skeletal dysplasia syndrome"],[9780,"Lethal omphalocele-cleft palate syndrome","Czeizel syndrome"],[13050,"Lethal polymalformative syndrome, Boissel type"],[32931,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome","Fatal pontocerebellar hypoplasia-hypotonia-respiratory distress syndrome","Fatal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome","pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal"],[36217,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation"],[36218,"Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster","Lethal 1p36.33 deletion syndrome"],[15425,"Lethal recessive chondrodysplasia","Maroteaux-Stanescu-Cousin syndrome"],[35350,"Letrozole toxicity"],[9519,"letterer-Siwe disease"],[6829,"leukemoid reaction"],[17570,"Leukocyte adhesion deficiency","LAD"],[7293,"Leukocyte adhesion deficiency type I","LAD-I","leukocyte adhesion deficiency 1"],[9953,"Leukocyte adhesion deficiency type II","CDG syndrome type IIc","CDG-IIc","CDG2C","LAD-II","Rambam-Hasharon syndrome","SLC35C1-CDG"],[13016,"Leukocyte adhesion deficiency type III","LAD-1 variant","LAD-III","Leukocyte adhesion deficiency-1 variant","leukocyte adhesion deficiency 3"],[15348,"Leukoencephalopathy with bilateral anterior temporal lobe cysts"],[12622,"Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome","LBSL","Leukoencephalopathy with brain stem and spinal cord involvement-lactate elevation syndrome"],[13803,"Leukoencephalopathy with calcifications and cysts","LCC","Labrune syndrome"],[14292,"Leukoencephalopathy with mild cerebellar ataxia and white matter edema"],[13391,"Leukoencephalopathy-dystonia-motor neuropathy syndrome","sterol carrier protein 2 deficiency"],[16545,"Leukoencephalopathy-palmoplantar keratoderma syndrome"],[10275,"Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome","H-SMD","Hypomyelination-spondyloepimetaphyseal dysplasia syndrome","Leukoencephalopathy-SEMD syndrome","Leukoencephalopathy-metaphyseal chondrodysplasia syndrome","spondyloepimetaphyseal dysplasia, Bieganski type"],[13971,"Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome","COXPD12","Combined oxidative phosphorylation defect type 12","LTBL"],[9522,"Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome","Berlin syndrome","Ectodermal dysplasia, Berlin type"],[16557,"Leukonychia totalis"],[16213,"Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome"],[6830,"leukoplakia of penis"],[4679,"leukoplakia of vagina"],[19862,"levocardia"],[18826,"Lewis-Sumner syndrome","MADSAM","Multifocal acquired demyelinating sensory and motor neuropathy"],[7488,"Lewy body dementia"],[19155,"Leydig cell hypoplasia","46,XY DSD due to LH resistance or LHB deficiency","46,XY DSD due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency","46,XY disorder of sex development due to LH resistance or LHB deficiency","46,XY disorder of sex development due to luteinizing hormone resistance or luteinizing hormone beta subunit deficiency"],[19930,"Leydig cell hypoplasia due to complete LH resistance","46,XY disorder of sex development due to complete luteinizing hormone resistance","Leydig cell hypoplasia due to complete LH receptor inactivation","Leydig cell hypoplasia due to complete luteinizing hormone receptor inactivation","Leydig cell hypoplasia due to complete luteinizing hormone resistance","46,XY DSD due to complete LH receptor inactivation","46,XY DSD due to complete LH resistance","46,XY DSD due to complete luteinizing hormone receptor inactivation","46,XY DSD due to complete luteinizing hormone resistance","46,XY disorder of sex development due to complete LH receptor inactivation","46,XY disorder of sex development due to complete LH resistance","46,XY disorder of sex development due to complete luteinizing hormone receptor inactivation"],[9223,"Leydig cell hypoplasia due to LHB deficiency","46,XY DSD due to LHB deficiency","46,XY DSD due to luteinizing hormone subunit beta deficiency","46,XY disorder of sex development due to LHB deficiency","46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency","Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency","hypogonadotropic hypogonadism 23 with or without anosmia"],[19931,"Leydig cell hypoplasia due to partial LH resistance","46,XY DSD due to partial LH receptor inactivation","46,XY DSD due to partial LH resistance","46,XY DSD due to partial luteinizing hormone resistance","46,XY disorder of sex developement due to partial LH receptor inactivation","46,XY disorder of sex developement due to partial LH resistance","46,XY disorder of sex developement due to partial luteinizing hormone resistance","Leydig cell hypoplasia due to partial LH receptor inactivation","Leydig cell hypoplasia due to partial luteinizing hormone receptor inactivation","Leydig cell hypoplasia due to partial luteinizing hormone resistance"],[19002,"Lhermitte-Duclos disease","Dysplastic gangliocytoma of the cerebellum","LDD"],[18875,"Li-Fraumeni syndrome"],[3472,"lice infestation"],[18856,"Lichen amyloidosis","Amyloid lichen","Lichen amyloidosus"],[6571,"lichen nitidus"],[18879,"Lichen planopilaris","Follicular lichen planus","LPP","Lichen follicularis","Lichen planus follicularis"],[6572,"lichen planus"],[16775,"Lichen planus pemphigoides","LP pemphigoides"],[16774,"Lichen planus pigmentosus","LP pigmentosa","LP pigmentosus","Lichen planus pigmentosa","Lichen planus pigmentosus inversus"],[7899,"lichen sclerosus et atrophicus"],[9523,"Lichtenstein syndrome"],[8323,"Liddle syndrome","Pseudoaldosteronism"],[11686,"LIG4 syndrome","DNA ligase IV syndrome","SCID with macrocephaly due to DNA ligase IV deficiency","DNA ligase IV deficiency"],[19729,"Light and heavy chain deposition disease","LHCDD"],[19730,"Light chain deposition disease","LCDD"],[100560,"ligneous conjunctivitis"],[16528,"Limb body wall complex","Body stalk anomaly","LBWC syndrome"],[14489,"Limb-girdle muscular dystrophy due to POMK deficiency","LGMD due to POMK deficiency"],[11334,"Limb-mammary syndrome","LMS"],[25667,"Limbal stem cell deficiency"],[16358,"Limited cutaneous systemic sclerosis"],[16359,"Limited systemic sclerosis","Systemic sclerosis sine scleroderma"],[13688,"Linear and whorled nevoid hypermelanosis","LWNH"],[15371,"Linear atrophoderma of Moulin"],[16438,"Linear focal elastosis","Elastotic striae","Linear focal dermal elastosis"],[35124,"Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies","RHOA-related mosaic ectodermal dysplasia"],[18748,"Linear IgA dermatosis"],[16769,"Linear lichen planus","Blaschkoid LP","Blaschkoid lichen planus","Linear LP"],[8097,"Linear nevus sebaceus syndrome","linear nevus sebaceous syndrome"],[43294,"linear scleroderma"],[16831,"Linear verrucous nevus syndrome","Linear hamartoma syndrome"],[6834,"lip cancer"],[14431,"LIPE-related familial partial lipodystrophy","FPLD6","LIPE-related FPLD"],[16611,"Lipoblastoma"],[9312,"Lipodystrophy due to peptidic growth factors deficiency","Combined insulin, insulin-like growth factor 1 (IGF1) and epidermal growth factor (EGF) deficiency","Hoepffner-Dreyer-Reimers syndrome","Werner-like syndrome due to combined growth factor deficiency"],[11976,"Lipodystrophy-intellectual disability-deafness syndrome","Lipodystrophy-intellectual disability-hearing loss syndrome","Rajab-Spranger syndrome"],[13762,"Lipoic acid synthetase deficiency"],[9530,"Lipoid proteinosis","Hyalinosis cutis et mucosae","Urbach-Wiethe disease"],[12725,"Lipoprotein glomerulopathy","LPG"],[5060,"Liposarcoma"],[14576,"Lipoyl transferase 1 deficiency"],[60562,"Lipoyl transferase 2 deficiency","encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities"],[10425,"Lisch epithelial corneal dystrophy","Band-shaped and whorled microcystic dystrophy of the corneal epithelium","LECD"],[11830,"Lissencephaly due to LIS1 mutation","PAFAH1B1-related lissencephaly"],[12703,"Lissencephaly due to TUBA1A mutation"],[9760,"Lissencephaly syndrome, Norman-Roberts type","Microlissencephaly type A","Norman-Roberts syndrome"],[10239,"Lissencephaly type 1 due to doublecortin gene mutation","X-linked lissencephaly type 1"],[19449,"Lissencephaly type 3-familial fetal akinesia sequence syndrome"],[11004,"Lissencephaly type 3-metacarpal bone dysplasia syndrome"],[15034,"Lissencephaly with cerebellar hypoplasia type A"],[15035,"Lissencephaly with cerebellar hypoplasia type B"],[15036,"Lissencephaly with cerebellar hypoplasia type C"],[15037,"Lissencephaly with cerebellar hypoplasia type D"],[15038,"Lissencephaly with cerebellar hypoplasia type E"],[15039,"Lissencephaly with cerebellar hypoplasia type F"],[5828,"Listeriosis","Listeria infection"],[975752,"Littoral cell hemangioma of the spleen","LCA","Littoral cell angioma","Littoral cell haemangioma of the spleen"],[25514,"Livedoid vasculopathy","Livedo reticularis with summer ulcerations","Milian atrophie blanche","Segmental hyalinizing vasculitis"],[700051,"liver abscess (disease)"],[35447,"Liver adenomatosis","Hepatic adenomatosis"],[2387,"liver angiosarcoma"],[4715,"liver carcinoma in situ"],[5154,"liver disorder"],[18203,"LMNA-related cardiocutaneous progeria syndrome","LCPS"],[19756,"Lobar holoprosencephaly"],[1616,"lobomycosis"],[6270,"lobular breast carcinoma in situ"],[1799,"localized anterior staphyloma"],[35349,"Localized dystrophic epidermolysis bullosa","Localized DEB"],[15552,"Localized dystrophic epidermolysis bullosa, acral form","Localized DEB, acral form","acral dystrophic epidermolysis bullosa"],[15553,"Localized dystrophic epidermolysis bullosa, nails only","Localized DEB, nails only","dystrophic epidermolysis bullosa, nails only"],[7552,"Localized dystrophic epidermolysis bullosa, pretibial form","DEB-Pt","Localized DEB, pretibial form","pretibial dystrophic epidermolysis bullosa"],[7551,"Localized epidermolysis bullosa simplex","EBS-loc","Epidermolysis bullosa simplex of palms and soles","Epidermolysis bullosa simplex, Weber-Cockayne type","Localized EBS","epidermolysis bullosa simplex 1C, localized"],[16673,"Localized junctional epidermolysis bullosa","JEB-nH loc","Junctional epidermolysis bullosa, non-Herlitz localized type","Localized JEB","localized junctional epidermolysis bullosa, non-Herlitz type"],[19583,"Localized lichen myxedematosus with mixed features of different subtypes"],[19584,"Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms"],[15809,"Localized pagetoid reticulosis","Pagetoid reticulosis, Woringer-Kolopp type"],[19562,"Localized scleroderma","Localized fibrosing scleroderma"],[16567,"Locked-in syndrome","LIS","Pseudocoma"],[19159,"Loeffler endocarditis","Eosinophilic endocarditis"],[18954,"Loeys-Dietz syndrome"],[16644,"Logopenic progressive aphasia","LPA","Logopenic primary progressive aphasia","Logopenic variant PPA"],[16566,"Loiasis"],[12173,"Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency","LCHAD deficiency","LCHADD","Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency"],[2442,"long QT syndrome"],[15849,"Longitudinal vaginal septum"],[10908,"Loose anagen syndrome"],[1620,"louse-borne relapsing fever"],[17238,"Low oxygen affinity gamma chain hemoglobin disease","hemoglobinopathy Toms River"],[10939,"Low phospholipid-associated cholelithiasis","ABCB4-related cholelithiasis","LPAC","gallbladder disease 1"],[4745,"Low-flow priapism","priapism"],[16270,"Low-grade neuroendocrine tumor of the corpus uteri","Low-grade neuroendocrine tumor of the uterine corpus","Well-differentiated neuroendocrine neoplasm of the endometrium","Well-differentiated neuroendocrine tumor of the corpus uteri","Well-differentiated neuroendocrine tumor of the endometrium"],[16568,"Lowe-Kohn-Cohen syndrome","Deafness-nephritis-ano-rectal malformation syndrome","Hearing loss-nephritis-ano-rectal malformation syndrome"],[17477,"Lower limb hypertrophy"],[16639,"Lower limb malformation-hypospadias syndrome","Fried-Goldberg-Mundel syndrome","lower limb deficiency-hypospadias syndrome"],[14025,"Lower motor neuron syndrome with late-adult onset","LOSMoN","Late-onset spinal motor neuronopathy","SMAJ","Spinal muscular atrophy, Jokela type"],[4828,"lower urinary tract calculus"],[10851,"Lowry-MacLean syndrome"],[9191,"Lowry-Wood syndrome","Epiphyseal dysplasia-microcephaly-nystagmus syndrome"],[44675,"LRP5-related primary osteoporosis"],[10655,"Lujan-Fryns syndrome","X-linked intellectual disability with marfanoid habitus"],[17872,"Lujo hemorrhagic fever","Zambian hemorrhagic fever"],[19388,"LUMBAR syndrome","Lower body hemangioma-urogenital anomalies-myelopathy-bony deformities-anorectal and arterial malformations-renal anomalies syndrome","PELVIS syndrome","Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome","SACRAL syndrome"],[11116,"Lung agenesis-heart defect-thumb anomalies syndrome","Mardini-Nyhan syndrome"],[12757,"Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome"],[4670,"lupus erythematosus"],[19561,"Lupus erythematosus panniculitis","Lupus erythematosus profundus"],[19560,"Lupus erythematosus tumidus","Intermittent cutaneous lupus"],[14791,"Luscan-Lumish syndrome","SETD2-related overgrowth syndrome"],[1523,"luxation of globe"],[19632,"Lyme disease","Lyme borreliosis"],[5831,"lymph node tuberculosis"],[6277,"Lymphangioleiomyomatosis","LAM","lung lymphangioleiomyomatosis"],[11705,"lymphangioleiomyomatosis"],[5832,"lymphangitis"],[5761,"Lymphatic filariasis","filarial elephantiasis"],[19313,"lymphatic malformation"],[7921,"Lymphedema with yellow nails","YNS","Yellow nail syndrome"],[11166,"Lymphedema-atrial septal defects-facial changes syndrome","Irons-Bhan syndrome","Irons-Bianchi syndrome"],[7917,"Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome","lymphedema-cerebral arteriovenous anomaly syndrome"],[7922,"Lymphedema-distichiasis syndrome"],[13324,"Lymphedema-posterior choanal atresia syndrome"],[1449,"lymphocytic choriomeningitis"],[704,"lymphocytic colitis"],[17835,"Lymphocytic hypereosinophilic syndrome","HES-L","Lymphocytic variant HES","Lymphoid HES"],[958101,"Lymphocytic mastitis","Lymphocytic mastopathy","Sclerosing lymphocytic lobulitis"],[979310,"Lymphoepithelial cyst of the pancreas","Pancreatic lymphoepithelial cyst"],[17348,"Lymphoepithelial-like carcinoma"],[5834,"lymphogranuloma venereum"],[9537,"Lymphoid interstitial pneumonia","Lymphocytic interstitial pneumonia"],[5402,"lymphoid leukemia"],[19466,"Lymphomatoid granulomatosis","LYG"],[20326,"Lymphomatoid papulosis","LyP"],[3783,"lymphopenia"],[35313,"Lymphoplasmacytic inflammatory pseudotumor of the liver","IgG4-related inflammatory pseudotumor of the liver"],[18621,"Lymphoplasmacytic lymphoma without IgM production","Lymphoplasmacytic lymphoma without Immunoglobulin M production"],[5835,"Lynch syndrome"],[9109,"Lysinuric protein intolerance"],[800449,"Lysosomal acid lipase deficiency","LAL deficiency","LALD"],[8705,"Lysosomal acid phosphatase deficiency"],[7481,"Léri-Weill dyschondrosteosis","Leri-Weill dyschondrosteosis"],[17174,"Machado-Joseph disease type 1","SCA3, Joseph type","Spinocerebellar ataxia type 3, Joseph type"],[17175,"Machado-Joseph disease type 2","SCA3, Thomas type","Spinocerebellar ataxia, Thomas type"],[17176,"Machado-Joseph disease type 3","SCA3, Machado type","Spinocerebellar ataxia type 3, Machado type"],[32943,"Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome","Nabais Sa-de Vries type 2 syndrome","neurodevelopmental disorder with relative macrocephaly and with or without cardiac or endocrine anomalies"],[14289,"Macrocephaly-developmental delay syndrome"],[11537,"Macrocephaly-intellectual disability-autism syndrome","macrocephaly-autism syndrome"],[10501,"Macrocephaly-intellectual disability-left ventricular non compaction syndrome","syndromic X-linked intellectual disability 34"],[14716,"Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome","MINDS syndrome","Smith-Kingsmore syndrome"],[16571,"Macrocephaly-short stature-paraplegia syndrome","Volcke-Soekarman syndrome"],[10858,"Macrocephaly-spastic paraplegia-dysmorphism syndrome","Fryns macrocephaly"],[19328,"Macrocystic lymphatic malformation","Cavernous lymphangioma","Cavernous lymphatic malformation","Macrocystic lymphangioma"],[17474,"Macrodactyly of fingers","Macrodactyly of hand"],[17565,"Macrodactyly of fingers, bilateral","Macrodactyly of hand, bilateral"],[17564,"Macrodactyly of fingers, unilateral","Macrodactyly of hand, unilateral"],[17475,"Macrodactyly of toes","Macrodactyly of foot"],[17567,"Macrodactyly of toes, bilateral","Macrodactyly of foot, bilateral"],[17566,"Macrodactyly of toes, unilateral","Macrodactyly of foot, unilateral"],[15496,"Macroglossia"],[15545,"Macrophage activation syndrome"],[18942,"Macrophagic myofasciitis","MMF"],[9547,"Macrosomia-microphthalmia-cleft palate syndrome","Teebi-Al Saleh-Hassoon syndrome"],[19387,"Macrostomia-preauricular tags-external ophthalmoplegia syndrome"],[16360,"Macrothrombocytopenia with mitral valve insufficiency","marcothrombocytopenia with mitral valve insufficiency"],[15303,"Macular amyloidosis"],[9001,"Macular coloboma-cleft palate-hallux valgus syndrome"],[9020,"Macular corneal dystrophy","Corneal dystrophy Groenouw type II","Fehr corneal dystrophy","MCD"],[1395,"macular keratitis"],[19316,"Maculopapular cutaneous mastocytosis","Urticaria pigmentosa"],[15307,"Madras motor neuron disease","MMND"],[13808,"Maffucci syndrome","Enchondromatosis Spranger type II","Multiple Enchondromatosis type II","Multiple Enchondromatosis, Maffucci Type"],[17958,"MAGIC syndrome","Mouth and genital ulcers-inflamed cartilage syndrome"],[6844,"magnesium deficiency"],[2811,"main bronchus cancer"],[12316,"Majeed syndrome","Chronic recurrent multifocal osteomyelitis-congenital dyserythropoietic anemia-neutrophilic dermatosis syndrome"],[16217,"Mal de débarquement","Disembarkment syndrome","MdD","MdDS","Sickness of disembarkment","mal de Debarquement"],[9552,"Mal de Meleda"],[18913,"Malakoplakia"],[13885,"Malan overgrowth syndrome","Sotos syndrome 2"],[5136,"Malaria"],[10617,"Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome","Sohval-Soffer syndrome"],[5372,"male infertility"],[35153,"Male infertility due to acephalic spermatozoa","Acephalic spermatozoa syndrome"],[15746,"Male infertility due to globozoospermia","Male infertility due to round-headed spermatozoa","Round-headed sperm syndrome"],[9461,"Male infertility due to large-headed multiflagellar polyploid spermatozoa","Macrocephalic sperm head syndrome","Male infertility due to macrozoospermia","spermatogenic failure 5"],[18393,"Male infertility with azoospermia or oligozoospermia due to single gene mutation","obsolete male infertility with azoospermia or oligozoospermia due to single gene mutation"],[18394,"Male infertility with teratozoospermia due to single gene mutation"],[3522,"male orgasm disorder"],[3150,"male reproductive system disorder"],[17330,"Malignancy diagnosed during pregnancy","Cancer diagnosed during pregnancy"],[11208,"Malignant atrophic papulosis","Cutaneo-muco-intestinal syndrome","MAP","Papulosis atrophicans maligna"],[4650,"malignant carotid body paraganglioma"],[21063,"malignant colon neoplasm"],[17167,"Malignant epithelial tumor of salivary glands"],[16289,"Malignant germ cell tumor of the cervix uteri","Cervical germ cell cancer","Cervical malignant germ cell tumor","Germ cell cancer of the cervix uteri","malignant germ cell tumor of cervix uteri"],[16273,"Malignant germ cell tumor of the corpus uteri","Germ cell cancer of the corpus uteri","malignant germ cell tumor of corpus uteri"],[16094,"Malignant germ cell tumor of the vagina","Vaginal germ cell cancer","Vaginal germ cell malignant tumor"],[20541,"Malignant granulosa cell tumor of the ovary","Granulosa cell cancer","Granulosa cell malignant tumor","maligant granulosa cell tumor of ovary"],[18493,"Malignant hyperthermia of anesthesia","Hyperthermia of anesthesia"],[15694,"Malignant melanoma of the mucosa"],[3792,"Malignant mixed Müllerian tumor of the ovary","MMMT of the ovary","Ovarian carcinosarcoma","Ovarian malignant mixed Müllerian tumor","Ovarian malignant mixed epithelial mesenchymal tumor"],[2432,"malignant neoplasm of acoustic nerve"],[21309,"malignant neoplasm of endocervix"],[16096,"Malignant non-dysgerminomatous germ cell tumor of ovary","Non-dysgerminomatous germ cell cancer of ovary"],[1050,"malignant otitis externa"],[9831,"malignant pancreatic neoplasm"],[17827,"Malignant peripheral nerve sheath tumor","MPNST","Malignant neurilemmoma","Malignant neurofibroma","Malignant schwannoma","Neurofibrosarcoma","Neurogenic sarcoma"],[16751,"Malignant peripheral nerve sheath tumor with perineurial differentiation","Malignant perineurioma"],[5512,"Malignant peritoneal mesothelioma","Diffuse malignant peritoneal mesothelioma","Primary malignant peritoneal mesothelioma"],[20542,"Malignant Sertoli-Leydig cell tumor of the ovary","Androblastoma","Arrhenoblastoma","Ovarian Sertoli-Leydig cell cancer","Ovarian malignant Sertoli-Leydig cell tumor","Virilizing ovarian tumor","malignant Sertoli-Leydig cell tumor of ovary"],[18369,"Malignant teratoma of ovary","Immature teratoma of ovary","Ovarian immature teratoma","Ovarian malignant teratoma","immature ovarian teratoma"],[16757,"Malignant triton tumor","MPNST with rhabdomyosarcomatous differentiation","MTT","Malignant peripheral nerve sheath tumor with rhabdomyosarcomatous differenciation"],[21321,"malignant tumor of extrahepatic bile duct"],[2158,"Malignant tumor of fallopian tubes","Cancer of fallopian tubes","Malignant tubal tumor","Tubal cancer","fallopian tube cancer"],[21320,"malignant tumor of floor of mouth"],[21322,"malignant tumor of meninges"],[21315,"malignant tumor of nasopharynx"],[21311,"malignant tumor of parathyroid gland"],[1325,"Malignant tumor of penis","Cancer of penis","Malignant penile tumor","Penile cancer"],[1480,"malignant tumor of undescended testis"],[6295,"malignant urinary system neoplasm"],[43247,"Mallory-Weiss syndrome"],[9556,"Malonic aciduria","Deficiency of malonyl-CoA decarboxylase","MLYCD deficiency","Malonic acidemia","Malonyl-CoA decarboxylase deficiency"],[20426,"Malposition of a coronary ostium","malposition of the coronary ostium"],[7650,"MALT lymphoma","Extranodal marginal zone B-cell lymphoma","MALToma","Mucosa-associated lymphatic tissue lymphoma","Mucosa-associated lymphoid tissue lymphoma"],[13368,"Mammary-digital-nail syndrome","MDN syndrome","Onycho-digito-mammary syndrome"],[18349,"MAN1B1-CDG","Carbohydrate deficient glycoprotein syndrome type II due to MAN1B1 deficiency","Congenital disorder of glycosylation type 2 due to MAN1B1 deficiency","Congenital disorder of glycosylation type II due to MAN1B1 deficiency","Intellectual disability-truncal obesity syndrome","MAN1B1-congenital disorder of glycosylation"],[5837,"mandibular cancer"],[14157,"Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome","MDP syndrome","MDPL syndrome","Mandibular hypoplasia-hearing loss-progeroid syndrome","mandibular hypoplasia-deafness-progeroid syndrome"],[16584,"Mandibuloacral dysplasia","MAD"],[30880,"Mandibuloacral dysplasia associated to MTX2","MADaM","MDPS","Mandibuloacral dysplasia progeroid syndrome"],[9557,"Mandibuloacral dysplasia with type A lipodystrophy","MADA"],[12074,"Mandibuloacral dysplasia with type B lipodystrophy"],[15483,"Mandibulofacial dysostosis","Bilateral and symmetric oto-mandibular dysplasia"],[14608,"Mandibulofacial dysostosis with alopecia","MFDA"],[11255,"Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome","Macroblepharon-ectropion-hypertelorism-macrostomia syndrome"],[12516,"Mandibulofacial dysostosis-microcephaly syndrome","MFDM syndrome","Mandibulofacial dysostosis, Guion-Almeida type"],[17638,"Manganese poisoning","Manganese intoxication","Manganism"],[5838,"Mansonelliasis","Mansonellosis"],[18876,"Mantle cell lymphoma","LCM","MCL","Mantle zone lymphoma"],[4584,"maple bark strippers' lung"],[9563,"Maple syrup urine disease","BCKD deficiency","BCKDH deficiency","Branched-chain 2-ketoacid dehydrogenase deficiency","Branched-chain ketoaciduria","MSUD"],[6848,"marasmus"],[16429,"Marburg acute multiple sclerosis","Acute multiple sclerosis, Marburg type","Acute multiple sclerosis, Marburg variant"],[20500,"Marburg hemorrhagic fever","Green monkey disease","MHF","Marburg virus disease"],[16370,"Marchiafava-Bignami disease","MBD"],[7946,"Marcus-Gunn syndrome","Jaw-winking syndrome","Mandibulo-palpebral synkinesis-ptosis syndrome","Marcus-Gunn phenomenon"],[9564,"Marden-Walker syndrome"],[7947,"Marfan syndrome type 1","Marfan syndrome"],[12427,"Marfan syndrome type 2","MFS2","Loeys-Dietz syndrome 2"],[9566,"Marfanoid habitus-autosomal recessive intellectual disability syndrome","Fragoso-Cantú syndrome"],[60532,"Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome","congenital heart defects and skeletal malformations syndrome"],[17793,"Marfanoid habitus-inguinal hernia-advanced bone age syndrome"],[9120,"Marfanoid syndrome, De Silva type","diverticulosis of bowel, hernia, and retinal detachment"],[1034,"marginal corneal ulcer"],[18631,"Marie Unna hereditary hypotrichosis","Hypotrichosis, Marie Unna type","MUHH","Marie Unna congenital hypotrichosis"],[15101,"Marin-Amat syndrome"],[9567,"Marinesco-Sjögren syndrome","Marinesco-Sjogren syndrome"],[7949,"Marshall syndrome"],[11244,"Marshall-Smith syndrome","Accelerated skeletal maturation-facial dysmorphism-failure to thrive syndrome"],[14920,"Martinique crinkled retinal pigment epitheliopathy","MCRPE","patterned macular dystrophy 3"],[10559,"MASA syndrome"],[20334,"Mast cell leukemia"],[19024,"Mast cell sarcoma"],[16378,"Maternal hyperthermia-induced birth defects","maternal hyperthermia induced birth defects"],[16366,"Maternal phenylketonuria syndrome","Hyperphenylalaninemic embryopathy","Maternal PKU syndrome","Maternal hyperphenylalaninemia","Phenylketonuric embryopathy","maternal phenylketonuria"],[14013,"Maternal riboflavin deficiency"],[16651,"Maternal uniparental disomy of chromosome 1 syndrome","UPD(1)mat","maternal uniparental disomy of chromosome 1"],[19994,"Maternal uniparental disomy of chromosome 13 syndrome","UPD(13)mat","maternal uniparental disomy of chromosome 13"],[19916,"Maternal uniparental disomy of chromosome 16 syndrome","UPD(16)mat","maternal uniparental disomy of chromosome 16"],[19910,"Maternal uniparental disomy of chromosome 2 syndrome","UPD(2)mat","maternal uniparental disomy of chromosome 2"],[19917,"Maternal uniparental disomy of chromosome 20 syndrome","Maternal UPD(20)","UPD(20)mat","maternal uniparental disomy of chromosome 20"],[19918,"Maternal uniparental disomy of chromosome 21 syndrome","UPD(21)mat","maternal uniparental disomy of chromosome 21"],[19919,"Maternal uniparental disomy of chromosome 22 syndrome","UPD(22)mat","maternal uniparental disomy of chromosome 22"],[19911,"Maternal uniparental disomy of chromosome 4 syndrome","UPD(4)mat","maternal uniparental disomy of chromosome 4"],[19912,"Maternal uniparental disomy of chromosome 6 syndrome","UPD(6)mat","maternal uniparental disomy of chromosome 6"],[19914,"Maternal uniparental disomy of chromosome 9 syndrome","UPD(9)mat","maternal uniparental disomy of chromosome 9"],[16851,"Maternal uniparental disomy of chromosome X syndrome","UPD(X)mat","maternal uniparental disomy of chromosome X"],[11010,"Matthew-Wood syndrome","microphthalmia, syndromic 9"],[7953,"Maxillonasal dysplasia","Binder syndrome","Maxillonasal dysostosis"],[43361,"May-Thurner syndrome","Cockett syndrome","MTS"],[17771,"Mayer-Rokitansky-Küster-Hauser syndrome","MRKH syndrome","Rokitansky syndrome","Mayer-Rokitansky-Kuster-Hauser syndrome"],[10173,"Mayer-Rokitansky-Küster-Hauser syndrome type 1","Congenital absence of uterus and vagina","MRKH syndrome type 1","Rokitansky sequence","Mayer-Rokitansky-Kuster-Hauser syndrome type 1"],[10989,"Mayer-Rokitansky-Küster-Hauser syndrome type 2","Atypical MRKH syndrome","MRKH syndrome type 2","MURCS association","Müllerian duct aplasia-renal dysplasia-cervical somite anomalies syndrome"],[18933,"Mazabraud syndrome","Myxoma with fibrous dysplasia"],[859267,"MBD4-related tumor predisposition syndrome","tumor predisposition syndrome 2"],[18919,"McCune-Albright syndrome"],[9570,"McDonough syndrome"],[9367,"McKusick-Kaufman syndrome","Hydrometrocolpos-postaxial polydactyly syndrome","Kaufman-Mckusick syndrome"],[18945,"McLeod neuroacanthocytosis syndrome","MLS","X-linked McLeod syndrome","XK-related neurodegenerative disease"],[12164,"Meacham syndrome","Meacham-Winn-Culler syndrome","Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome"],[4619,"measles"],[1622,"mechanical lagophthalmos"],[4753,"mechanical strabismus"],[7955,"Meckel diverticulum"],[18921,"Meckel syndrome"],[6851,"Meconium aspiration syndrome"],[10397,"MECP2-related severe neonatal encephalopathy","Severe congenital encephalopathy due to MECP2 mutation","severe neonatal-onset encephalopathy with microcephaly"],[18929,"Medial condensing osteitis of the clavicle","Osteitis condensans of the clavicle"],[16062,"Median cleft lip/mandible","Median cleft lower facial stage","Median cleft of the lower lip and mandible","Median mandibular cleft","median cleft lip/mandibule"],[15413,"Median cleft of the upper lip and maxilla"],[7904,"Median nodule of the upper lip"],[1880,"median rhomboid glossitis"],[4492,"mediastinitis"],[18268,"Medich giant platelet syndrome","Medich macrothrombocytopenia"],[8721,"Medium chain acyl-CoA dehydrogenase deficiency","ACADM deficiency","Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency","MCAD deficiency","MCADD","Medium chain acyl-coenzyme A dehydrogenase deficiency"],[12251,"MEDNIK syndrome","Intellectual disability-enteropathy-deafness-peripheral neuropathy-ichthyosis-keratodermia syndrome","Intellectual disability-enteropathy-hearing loss-peripheral neuropathy-ichthyosis-keratodermia syndrome"],[15268,"Medullary sponge kidney","Cacchi-Ricci disease","MSK","Precalicial canalicular ectasia"],[15277,"Medullary thyroid carcinoma","MTC","medullary thyroid gland carcinoma"],[7959,"Medulloblastoma"],[16710,"Medulloblastoma with extensive nodularity","MBEN"],[7379,"Meesmann corneal dystrophy","Juvenile hereditary epithelial dystrophy of Meesmann","MECD"],[19953,"Mega-cisterna magna"],[11246,"Megaconial congenital muscular dystrophy","Congenital megaconial myopathy","Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect","Congenital muscular dystrophy with mitochondrial structural abnormalities","megaconial type congenital muscular dystrophy"],[16548,"Megacystis-megaureter syndrome","Megaureter-megacystis syndrome"],[100354,"Megacystis-microcolon-intestinal hypoperistalsis syndrome","Berdon syndrome","MMIHS","Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome","megacystis-microcolon-intestinal hypoperistalsis syndrome 1"],[18436,"Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)","Megakaryoblastic AML with t(1;22)(p13;q13)"],[11391,"Megalencephalic leukoencephalopathy with subcortical cysts","MLC","Megalencephalic leukodystrophy","Megalencephaly-cystic leukodystrophy syndrome","Vacuolating megalencephalic leukoencephalopathy with subcortical cysts","Van der Knaap syndrome"],[16608,"megalencephaly"],[11240,"Megalencephaly-capillary malformation-polymicrogyria syndrome","MCAP","MCM","MCMTC","Macrocephaly-capillary malformation syndrome","Macrocephaly-cutis marmorata telangiectatica congenita syndrome","Megalencephaly-capillary malformation syndrome","Megalencephaly-cutis marmorata telangiectatica congenita syndrome"],[19375,"Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome","MPPH syndrome"],[18710,"Megalencephaly-severe kyphoscoliosis-overgrowth syndrome"],[971066,"Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency"],[9577,"Megalocornea-intellectual disability syndrome","MMR syndrome","Neuhäuser syndrome"],[13875,"MEGDEL syndrome","3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome","3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome","3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome"],[10258,"MEHMO syndrome","X-linked intellectual disability-epileptic seizures-hypogenitalism-microcephaly-obesity syndrome"],[7920,"Meige disease","Hereditary lymphedema type II","Meige lymphedema","lymphatic malformation 5"],[17799,"Meigs syndrome","Demons-Meigs syndrome"],[7967,"Melanoma and neural system tumor syndrome","Melanoma-astrocytoma syndrome"],[19971,"Melanoma of soft tissue","Clear cell sarcoma of the tendons and aponeuroses"],[10789,"MELAS","Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes","Mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes","Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes","MELAS syndrome"],[16622,"Melhem-Fahl syndrome"],[17775,"Melioidosis","Burkholderia pseudomallei infection"],[7969,"Melkersson-Rosenthal syndrome"],[10650,"Melnick-Needles syndrome","Melnick-Needles osteodysplasty"],[7970,"Melorheostosis"],[15995,"Melorheostosis with osteopoikilosis","MSBD syndrome","Mixed sclerosing bone dystrophy"],[10498,"MEND syndrome","Male EBP disorder with neurological defects"],[20530,"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency","MSMD due to complete IFNgammaR1 deficiency","MSMD due to complete interferon gamma receptor 1 deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 1 deficiency"],[17900,"Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency","MSMD due to complete IFNgammaR2 deficiency","MSMD due to complete interferon gamma receptor 2 deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency","autosomal recessive Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency"],[13954,"Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency","MSMD due to complete IL12B deficiency","MSMD due to complete interleukin 12B deficiency","Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency"],[13955,"Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency","MSMD due to complete IL12RB1 deficiency","MSMD due to complete interleukin 12 receptor beta 1 deficiency","Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency"],[14502,"Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency","MSMD due to complete ISG15 deficiency"],[14710,"Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency","MSMD due to complete RORgamma receptor defiency","Mendelian susceptibility to mycobacterial diseases due to complete RAR related orphan receptor C deficiency","Primary immunodeficiency due to RORC mutation","autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency"],[13957,"Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency","MSMD due to partial IRF8 deficiency","MSMD due to partial interferon regulatory factor 8 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency"],[35548,"Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency","MSMD due to partial JAK1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency","autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial jak1 deficiency"],[13956,"Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency","MSMD due to partial STAT1 deficiency","MSMD due to partial signal transducer and activator of transcription 1 deficiency","Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency"],[7972,"Meniere disease"],[16746,"Meningeal melanocytoma"],[6042,"meningeal tuberculosis"],[16642,"Meningioma"],[5373,"meningococcal infection"],[18059,"meningococcal meningitis"],[20774,"Menke-Hennekam syndrome"],[10651,"Menkes disease","MD","Menkes kinky hair disease","Menkes syndrome"],[44660,"Menstrual cycle-dependent periodic fever","Luteal-phase-dependent febrile episode","Luteal-phase-dependent periodic fever","Menstrual cycle-dependent febrile episode"],[15003,"MEPAN syndrome","Autosomal recessive childhood-onset dystonia, DYT29 type","Childhood-onset generalized dystonia-optic atrophy syndrome","DYT29","Dystonia 29","Mitochondrial enoyl CoA reductase protein-associated neurodegeneration syndrome","dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities"],[23757,"meralgia paresthetica"],[18020,"Mercury poisoning","Hydrargyria","Mercurialism","Mercury intoxication"],[10790,"MERRF","Fukuhara syndrome","Myoclonus epilepsy associated with ragged-red fibres","MERRF syndrome"],[1116,"mesenteric lymphadenitis"],[20476,"Mesial temporal lobe epilepsy with hippocampal sclerosis","HS-MTLE","Hippocampal sclerosis-related mesial temporal lobe epilepsy","MTLE-HS"],[12271,"Mesoaxial synostotic syndactyly with phalangeal reduction","MSSD","Syndactyly type 9","Syndactyly, Malik-Percin type"],[19807,"Mesocardia","Midline heart"],[10881,"Mesomelia-synostoses syndrome","8q13 microdeletion syndrome","Del(8)q(13)","Mesomelia-synostoses syndrome, Verloes-David-Pfeiffer type","Mesomelic dysplasia with acral synostoses, Verloes-David-Pfeiffer type","Monosomy 8q13","Verloes-David syndrome"],[8618,"Mesomelic dwarfism, Reinhardt-Pfeiffer type","Reinhardt-Pfeiffer mesomelic dysplasia","Reinhardt-Pfeiffer syndrome"],[9589,"Mesomelic dwarfism-cleft palate-camptodactyly syndrome","Mesomelic dysplasia, Kozlowski-Reardon type","Mesomelic dysplasia, Reardon type","Reardon-Hall-Slaney syndrome"],[7977,"Mesomelic dysplasia, Kantaputra type","Kantaputra mesomelic dysplasia","MDK","Mesomelic dysplasia, Thai type"],[8098,"Mesomelic dysplasia, Nievergelt type","Mesomelic dwarfism, Nievergelt type","Nievergelt syndrome"],[11530,"Mesomelic dysplasia, Savarirayan type","Mesomelic dysplasia with absent fibulas and triangular tibias","Triangular tibia-fibular aplasia syndrome"],[858998,"Mesomelic dysplasia-digital anomalies-intellectual disability syndrome"],[5065,"mesothelioma"],[975890,"Mesothelioma of the tunica vaginalis","Malignant mesothelioma of the tunica vaginalis"],[5066,"metabolic disease"],[7027,"metabolic dysfunction-associated steatohepatitis"],[9501,"Metabolic myopathy due to lactate transporter defect","Erythrocyte lactate transporter defect"],[7979,"Metachondromatosis"],[18868,"Metachromatic leukodystrophy","Arylsulfatase A deficiency","MLD"],[17730,"Metachromatic leukodystrophy, adult form","Arylsulfatase A deficiency, adult form","MLD, adult form"],[9591,"Metachromatic leukodystrophy, juvenile form","Arylsulfatase A deficiency, juvenile form","MLD, juvenile form"],[17729,"Metachromatic leukodystrophy, late infantile form","Arylsulfatase A deficiency, late infantile form","MLD, late infantile form"],[15177,"Metaphyseal anadysplasia","Maroteaux-Verloes-Stanescu syndrome","Regressive metaphyseal dysplasia"],[7982,"Metaphyseal chondrodysplasia, Jansen type"],[9594,"Metaphyseal chondrodysplasia, Kaitila type"],[8619,"Metaphyseal chondrodysplasia, Rosenberg type","Rosenberg-Lohr syndrome","ulna metaphyseal dysplasia syndrome"],[7983,"Metaphyseal chondrodysplasia, Schmid type","MDSC","SMCD","Schmid metaphyseal chondrodysplasia"],[9597,"Metaphyseal chondrodysplasia, Spahr type"],[13941,"Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria","MC-HGA"],[9599,"Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome","Metaphyseal dysostosis-intellectual disability-conductive hearing loss syndrome"],[11620,"Metaphyseal dysplasia, Braun-Tinschert type"],[7984,"Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome"],[6043,"Metaplastic carcinoma of the breast","metaplastic breast carcinoma"],[7986,"Metatropic dysplasia"],[17860,"Methanol poisoning"],[1117,"methemoglobinemia"],[16017,"Methimazole embryofetopathy","MMI/CMZ embryofetopathy","MMI/CMZ embryopathy","Methimazole/carbimazole embryofetopathy","Methimazole/carbimazole embryopathy"],[9607,"Methionine adenosyltransferase I/III deficiency","MAT I/III deficiency","Mudd's disease","methionine adenosyltransferase deficiency"],[34212,"Methotrexate toxicity"],[19483,"Methotrexate-associated lymphoproliferative disorders","MTX-LPD","MTX-associated lymphoproliferative disorders"],[17683,"Methylcobalamin deficiency type cblDv1","Functional methionine synthase deficiency type cblDv1"],[9354,"Methylcobalamin deficiency type cblE","Functional methionine synthase deficiency type cblE"],[9609,"Methylcobalamin deficiency type cblG","Functional methionine synthase deficiency type cblG"],[2012,"methylmalonic acidemia"],[9615,"Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency","MCEE deficiency","Methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency","Methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency","Methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency"],[16826,"Methylmalonic acidemia with homocystinuria","Combined defect in adenosylcobalamin and methylcobalamin synthesis","Methylmalonic aciduria with homocystinuria","methylmalonic aciduria and homocystinuria"],[10183,"Methylmalonic acidemia with homocystinuria type cblF","CblF defect","Cobalamin F defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF","Lysosomal membrane cobalamin transporter deficiency","Methylmalonic aciduria with homocystinuria, type cblF","methylmalonic aciduria and homocystinuria type cblF"],[10184,"Methylmalonic acidemia with homocystinuria, type cblC","CblC defect","Cobalamin C defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblC","Methylmalonic aciduria with homocystinuria, type cblC","methylmalonic aciduria and homocystinuria type cblC"],[10185,"Methylmalonic acidemia with homocystinuria, type cblD","CblD defect","Cobalamin D defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblD","Methylmalonic aciduria with homocystinuria, type cblD","methylmalonic aciduria and homocystinuria type cblD"],[13925,"Methylmalonic acidemia with homocystinuria, type cblJ","CblJ defects","Cobalamin J defect","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblJ","Methylmalonic aciduria with homocystinuria, type cblJ"],[10657,"Methylmalonic acidemia with homocystinuria, type cblX","Combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblX","Methylmalonic aciduria with homocystinuria, type cblX"],[13341,"Methylmalonic aciduria due to transcobalamin receptor defect","Methylmalonic acidemia, TCb1R type","Methylmalonic acidemia, TCbIR type","methylmalonic acidemia due to transcobalamin receptor defect"],[17708,"Mevalonate kinase deficiency","MKD"],[12481,"Mevalonic aciduria","Complete mevalonate kinase deficiency","MVA"],[14905,"MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect","Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome","Leigh-like encephalopathy-optic atrophy-peripheral neuropathy syndrome","encephalopathy due to defective mitochondrial and peroxisomal fission 2"],[8908,"MGAT2-CDG","CDG syndrome type IIa","CDG-IIa","CDG2A","Carbohydrate deficient glycoprotein syndrome type IIa","Congenital disorder of glycosylation type 2a","Congenital disorder of glycosylation type IIa","N-acetylglucosaminyltransferase 2 deficiency","MGAT2-congenital disorder of glycosylation"],[971093,"MGP-related spondyloepiphyseal dysplasia","MGP-related SED","Spondyloepiphyseal dysplasia-platyspondyly-brachytelephalangism syndrome"],[16649,"Micro syndrome","Warburg micro syndrome"],[10007,"Microbrachycephaly-ptosis-cleft lip syndrome","Richieri Costa-Guion Almeida-Ramos syndrome"],[18764,"Microcephalic cortical malformations-short stature due to RTTN deficiency","microcephalic primordial dwarfism due to RTTN deficiency"],[19407,"Microcephalic osteodysplastic dysplasia, Saul-Wilson type"],[8872,"Microcephalic osteodysplastic primordial dwarfism type II"],[16994,"Microcephalic osteodysplastic primordial dwarfism types I and III","MOPD types I and III","Microcephalic osteodysplastic primordial dwarfism, Taybi-Linder type","Primordial microcephalic dwarfism, Crachami type","Taybi-Linder syndrome"],[14043,"Microcephalic primordial dwarfism due to ZNF335 deficiency","Microcephalic primordial dwarfism, Walsh type"],[13922,"Microcephalic primordial dwarfism, Dauber type","Seckel syndrome 7"],[8870,"Microcephalic primordial dwarfism, Montreal type","Bird-headed dwarfism, Montreal type","bird headed-dwarfism, Montreal type"],[9616,"Microcephalic primordial dwarfism, Toriello type"],[18575,"Microcephalic primordial dwarfism-insulin resistance syndrome","obsolete microcephalic primordial dwarfism-insulin resistance syndrome"],[1149,"microcephaly"],[8750,"Microcephaly-albinism-digital anomalies syndrome","Castro Gago-Pombo-Novo syndrome"],[18091,"Microcephaly-brachydactyly-kyphoscoliosis syndrome","Viljoen-Kallis-Voges syndrome"],[16758,"Microcephaly-brain defect-spasticity-hypernatremia syndrome","Franek-Bocker-Kahlen syndrome"],[13659,"Microcephaly-capillary malformation syndrome","MIC-CAP syndrome","MIC-CM syndrome","Microcephaly-cutaneous capillary malformation syndrome"],[11050,"Microcephaly-cardiac defect-lung malsegmentation syndrome","Ellis-Yale-Winter syndrome"],[9618,"Microcephaly-cardiomyopathy syndrome","Winship-Viljoen-Leary syndrome"],[13735,"Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome","Microcephaly-cerebellar hypoplasia-congenital heart conduction defect syndrome"],[9621,"Microcephaly-cervical spine fusion anomalies syndrome"],[7918,"Microcephaly-chorioretinopathy-lymphedema syndrome","microcephaly with or without chorioretinopathy, lymphedema, or intellectual disability"],[16750,"Microcephaly-cleft palate-abnormal retinal pigmentation syndrome","microcephaly-cleft palate syndrome"],[18507,"Microcephaly-complex motor and sensory axonal neuropathy syndrome"],[14793,"Microcephaly-congenital cataract-psoriasiform dermatitis syndrome","SMO deficiency","Sterol-C4-methyl oxidase deficiency"],[30913,"Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrome","intellectual disability, autosomal dominant 48"],[7991,"Microcephaly-deafness-intellectual disability syndrome","Kawashima-Tsuji syndrome","Microcephaly-hearing loss-intellectual disability syndrome"],[35027,"Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome"],[13053,"Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type","Hadziselimovic syndrome","Microcephaly-faciocardioskeletal syndrome"],[9565,"Microcephaly-glomerulonephritis-marfanoid habitus syndrome"],[32942,"Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome","Microcephaly-deafness-facial dysmorphism-intellectual disability syndrome","Nabais Sa-de Vries type 1 syndrome","neurodevelopmental disorder with microcephaly and dysmorphic facies"],[14698,"Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome","Microcephaly-intellectual disability-sensorineural deafness-epilepsy-abnormal muscle tone syndrome"],[16760,"Microcephaly-microcornea syndrome, Seemanova type","Seemanova-Lesny syndrome"],[9619,"Microcephaly-micromelia syndrome","MIMIS"],[15745,"Microcephaly-polymicrogyria-corpus callosum agenesis syndrome"],[16719,"Microcephaly-seizures-intellectual disability-heart disease syndrome"],[18494,"Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome"],[60533,"Microcephaly-short stature-limb abnormalities syndrome","MISSLA","microcephaly, short stature, and limb abnormalities"],[14273,"Microcephaly-thin corpus callosum-intellectual disability syndrome"],[7992,"Microcornea-glaucoma-absent frontal sinuses syndrome"],[14195,"Microcornea-myopic chorioretinal atrophy-telecanthus syndrome","MMCAT syndrome","microcornea-myopic chorioretinal atrophy"],[16509,"Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome","MPPC syndrome"],[19329,"Microcystic lymphatic malformation","Capillary lymphangioma","Capillary lymphatic malformation","Cutaneous lymphangioma circumscriptum","Microcystic infiltrating lymphatic malformation","Microcystic lymphangioma","Superficial lymphangioma","Superficial lymphatic malformation"],[6339,"Microcystic stromal tumor","MCST","ovarian microcystic stromal tumor"],[8787,"Microcytic anemia with liver iron overload"],[10428,"Microduplication Xp11.22p11.23 syndrome","Dup(X)(p11.22p11.23)","Trisomy Xp11.22p11.23","chromosome Xp11.23-p11.22 duplication syndrome"],[17219,"Microform holoprosencephaly","HPE, minor form","HPE-L","Holoprosencephaly, minor form","Holoprosencephaly-like","Microform HPE"],[7993,"Microgastria-limb reduction defect syndrome"],[14892,"Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome"],[15204,"Microlissencephaly"],[18860,"Microlissencephaly-micromelia syndrome","Basel-Vanagaite-Sirota syndrome"],[11936,"Microphthalmia with brain and digit anomalies","Bakrania-Ragge syndrome","MCOPS6","Syndromic microphthalmia type 6"],[8800,"Microphthalmia with limb anomalies","Anophthalmia-syndactyly syndrome","OAS","Ophthalmoacromelic syndrome","Waardenburg anophthalmia syndrome"],[10672,"Microphthalmia with linear skin defects syndrome","MCOPS7","MIDAS syndrome","MLS syndrome","Microphthalmia-dermal aplasia-sclerocornea syndrome","Syndromic microphthalmia type 7","linear skin defects with multiple congenital anomalies"],[18924,"Microphthalmia, Lenz type","Lenz microphthalmia"],[10671,"Microphthalmia-ankyloblepharon-intellectual disability syndrome","MCOPS4","Syndromic microphthalmia type 4","microphthalmia, syndromic 1"],[12638,"Microphthalmia-brain atrophy syndrome","MCOPS10","MOBA syndrome","Syndromic microphthalmia type 10"],[43143,"Microphthalmia-microtia-fetal akinesia syndrome","Thomas-Jewett-Raines syndrome","microphthalmia microtia fetal akinesia"],[14229,"Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome","microphthalmia, syndromic 12"],[12605,"Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome","Nanophthalmos-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome","isolated microphthalmia 5"],[702,"microscopic colitis"],[19124,"Microscopic polyangiitis","MPA","Micropolyangiitis","Microscopic polyarteritis"],[7998,"Microspherophakia-metaphyseal dysplasia syndrome","Verloes-Van Maldergem-de Marneffe syndrome"],[5846,"Microsporidiosis"],[10920,"Microtia"],[12739,"Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome","Balikova-Vermeesch syndrome"],[17335,"Microtriplication 11q24.1 syndrome","Tetrasomy 11q24.1","microtriplication 11q24.1"],[975758,"Microvenular hemangioma","MVH","Microvenular haemangioma"],[9635,"Microvillus inclusion disease","Congenital microvillous atrophy","Congenital microvillus atrophy","MVID","Microvillous inclusion disease"],[15649,"Micturition-induced epilepsy","micturation-induced seizures"],[16449,"Mid-dermal elastolysis"],[15446,"Middle aortic syndrome","Abdominal coarctation","Coarctation of the abdominal aorta","MAC","Mid-aortic dysplastic syndrome","Mid-aortic syndrome","Midaortic syndrome","Middle aortic coarctation","atypical coarctation of aorta"],[3275,"middle ear cancer"],[3276,"middle ear disorder"],[15071,"Middle ear neuroendocrine tumor"],[100116,"Middle East respiratory syndrome","MERS"],[10516,"Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome","MFHIEN","Midface hypoplasia-hearing loss-elliptocytosis-nephrocalcinosis syndrome","midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis"],[15419,"Midline cervical cleft"],[1886,"midline cystocele"],[19758,"Midline interhemispheric variant of holoprosencephaly","MIH","MIH type HPE","MIHF","MIHV","Middle interhemispheric fusion variant","Middle interhemispheric variant of holoprosencephaly","Syntelencephaly","obsolete midline interhemispheric variant of holoprosencephaly"],[9582,"Mietens syndrome","Intellectual disability, Mietens-Weber type"],[5277,"migraine disorder"],[5475,"migraine with aura"],[100431,"migraine without aura"],[16818,"Mikati-Najjar-Sahli syndrome","Microcephaly-hypergonadotropic hypogonadism-short stature syndrome"],[17831,"Mild Canavan disease","Juvenile Canavan disease"],[15721,"Mild hemophilia A","Mild congenital F8 deficiency","Mild congenital factor VIII deficiency"],[15717,"Mild hemophilia B","Mild congenital F9 deficiency","Mild congenital factor IX deficiency"],[19335,"Mild hyperphenylalaninemia","Mild HPA","Non-PKU HPA","mHPA"],[18463,"Mild phosphoribosylpyrophosphate synthetase superactivity","Mild PRPP synthetase superactivity","Mild PRPS1 superactivity"],[11496,"Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis"],[24229,"miliaria crystallina"],[24228,"miliaria profunda"],[6581,"miliaria rubra"],[5848,"miliary tuberculosis"],[5851,"Miller Fisher syndrome","Cranial variant of GBS","Cranial variant of Guillain-Barré syndrome","Fisher syndrome"],[9532,"Miller-Dieker syndrome","Lissencephaly due to 17p13.3 deletion","Monosomy 17p13.3","Telomeric deletion 17p","Miller-Dieker lissencephaly syndrome"],[35892,"Mills syndrome"],[7919,"Milroy disease","lymphatic malformation 1"],[226,"mineral metabolism disease"],[18136,"Minimal pigment oculocutaneous albinism type 1","OCA1-MP","MP OCA type 1"],[850099,"MIR140-related spondyloepiphyseal dysplasia","MIR140-related SED","Spondyloepiphyseal dysplasia with severe brachydactyly-cone-shaped epiphyses"],[14888,"MIRAGE syndrome","Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital anomalies-enteropathy syndrome","Myelodysplasia-infection-restriction of growth-adrenal hypoplasia-genital phenotypes-enteropathy syndrome"],[43330,"Mirizzi syndrome","Extrinsic biliary compression syndrome"],[17583,"Mirror polydactyly-vertebral segmentation-limbs defects syndrome"],[700479,"Mirror-image polydactyly"],[17886,"MiT family translocation renal cell carcinoma","Carcinoma associated with MITF/TFE translocation","Translocation renal cell carcinoma"],[30073,"Mitchell Syndrome"],[13759,"MITF-related melanoma and renal cell carcinoma predisposition syndrome","melanoma, cutaneous malignant, susceptibility to, 8"],[12791,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria","Booth-Haworth-Dilling syndrome","Mitochondrial encephalomyopathy-aminoacidopathy syndrome","mtDNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria"],[12792,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy","mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy","mitochondrial DNA depletion syndrome 8a"],[14198,"Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies","mitochondrial DNA depletion syndrome 13"],[9636,"Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency","mitochondrial DNA depletion syndrome 3 (hepatocerebral type)"],[18197,"Mitochondrial DNA depletion syndrome, hepatocerebrorenal form","mtDNA depletion syndrome, hepatocerebrorenal form"],[16814,"Mitochondrial DNA-associated Leigh syndrome","MILS","Maternally-inherited Leigh disease","Maternally-inherited infantile subacute necrotizing encephalopathy","mtDNA-associated Leigh syndrome","maternally-inherited Leigh syndrome"],[15283,"Mitochondrial DNA-related cardiomyopathy and hearing loss","Maternally-inherited cardiomyopathy and deafness","mtDNA-related cardiomyopathy and deafness","mtDNA-related cardiomyopathy and hearing loss","tRNA-LYS-related cardiomyopathy-hearing loss syndrome","maternally-inherited cardiomyopathy and hearing loss"],[16806,"Mitochondrial DNA-related dystonia","Maternally-inherited mitochondrial dystonia","mtDNA-related dystonia"],[19016,"Mitochondrial DNA-related progressive external ophthalmoplegia","Maternally-inherited CPEO","Maternally-inherited chronic progressive external ophthalmoplegia","mtDNA-related progressive external ophthalmoplegia","maternally-inherited progressive external ophthalmoplegia"],[13865,"Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency","COXPD10","Combined oxidative phosphorylation defect type 10"],[13674,"Mitochondrial membrane protein-associated neurodegeneration","MPAN","NBIA due to C19orf12 mutation","NBIA4","Neurodegeneration with brain iron accumulation due to C19orf12 mutation","Neurodegeneration with brain iron accumulation type 4","neurodegeneration with brain iron accumulation 4"],[9637,"Mitochondrial myopathy","inborn mitochondrial myopathy"],[863,"Mitochondrial myopathy and sideroblastic anemia","MLASA","Myopathy, lactic acidosis and sideroblastic anemia","myopathy, lactic acidosis, and sideroblastic anemia"],[10780,"Mitochondrial myopathy with reversible cytochrome C oxidase deficiency","Benign COX deficiency","Infantile reversible cytochrome C oxidase deficiency myopathy","Mitochondrial myopathy with reversible COX deficiency","Mitochondrial myopathy with reversible complex IV deficiency","Reversible infantile cytochrome C oxidase deficiency","Reversible infantile respiratory chain deficiency"],[44714,"Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome","Mitochondrial myopathy-cerebellar atrophy-pigmentary retinopathy syndrome"],[16825,"Mitochondrial myopathy-lactic acidosis-deafness syndrome","Mitochondrial myopathy-lactic acidosis-hearing loss syndrome"],[17575,"Mitochondrial neurogastrointestinal encephalomyopathy","MNGIE"],[10779,"Mitochondrial non-syndromic sensorineural deafness","Isolated mitochondrial neurosensory deafness","Isolated mitochondrial neurosensory hearing loss","Isolated mitochondrial sensorineural deafness","Isolated mitochondrial sensorineural hearing loss","Mitochondrial non-syndromic neurosensory deafness","Mitochondrial non-syndromic neurosensory hearing loss","Mitochondrial non-syndromic sensorineural hearing loss"],[13877,"Mitochondrial pyruvate carrier deficiency"],[14563,"Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency","Crotonase deficiency","ECHS1D"],[12172,"Mitochondrial trifunctional protein deficiency","TFP deficiency","TFPD"],[15249,"Mitral atresia","mitral atresia disorder"],[20403,"Mitral valve agenesis","congenital mitral valve agenesis"],[5854,"Mixed connective tissue disease","MCTD","Sharp syndrome"],[19726,"Mixed cryoglobulinemia type II","MC type II","type II mixed cryoglobulinemia"],[19727,"Mixed cryoglobulinemia type III","MC type III"],[15864,"Mixed germ cell tumor"],[16742,"Mixed germ cell tumor of central nervous system","Mixed germ cell tumor of CNS"],[18717,"Mixed macro and microcystic lymphatic malformation","Mixed cystic lymphangioma","mixed cystic lymphatic malformation"],[44727,"Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas","MiNEN of pancreas","Pancreatic MiNEN","Pancreatic mixed neuroendocrine-nonneuroendocrine neoplasm","pancreatic carcinoma with mixed differentiation"],[20743,"Mixed phenotype acute leukemia"],[35639,"Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)","MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1"],[35642,"Mixed phenotype acute leukemia with t(v;11q23.3)","MPAL with t(v;11q23.3); KMT2A rearranged","MPAL with t(v;11q23.3); MLL rearranged"],[1568,"mixed receptive-expressive language disorder"],[17930,"Mixed sclerosing bone dystrophy with extra-skeletal manifestations"],[19534,"Mixed-type autoimmune hemolytic anemia","Mixed AIHA"],[9685,"Miyoshi myopathy"],[44657,"MME-related autosomal dominant Charcot Marie Tooth disease type 2","MME-related autosomal dominant CMT2","MME-related autosomal dominant hereditary motor and sensory neuropathy type 2"],[11045,"MMEP syndrome","MCOPS8","Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome","Syndromic microphthalmia type 8","Viljoen-Smart syndrome"],[15720,"Moderate hemophilia A","Moderate congenital F8 deficiency","Moderate congenital factor VIII deficiency","moderately severe hemophilia A"],[15716,"Moderate hemophilia B","Moderate congenital F9 deficiency","Moderate congenital factor IX deficiency","moderately severe hemophilia B"],[15793,"Moderate multiminicore disease with hand involvement"],[16977,"Moderately-differentiated thymic neuroendocrine carcinoma"],[18911,"MODY","Maturity-onset diabetes of the young"],[8006,"Moebius syndrome","Möbius syndrome"],[16819,"Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome"],[11629,"MOGS-CDG","CDG syndrome type IIb","CDG-IIb","CDG2B","Carbohydrate deficient glycoprotein syndrome type IIb","Congenital disorder of glycosylation type 2b","Congenital disorder of glycosylation type IIb","Glucosidase 1 deficiency","MOGS-congenital disorder of glycosylation"],[10578,"Mohr-Tranebjaerg syndrome","Hearing loss-dystonia-optic neuronopathy syndrome","DDON syndrome","Deafness-dystonia-optic neuronopathy syndrome","deafness dystonia syndrome"],[5855,"molluscum contagiosum"],[8008,"MOMO syndrome","Macrocephaly-obesity-intellectual disability-ocular abnormalities syndrome","Macrosomia-obesity-macrocephaly-ocular abnormalities syndrome"],[8009,"Monilethrix","Moniliform hair syndrome"],[2594,"monkeypox"],[10379,"Monoamine oxidase A deficiency","Brunner syndrome"],[4960,"monoclonal gammopathy"],[33954,"Monoclonal mast cell activation syndrome","Primary MCAS","Clonal MCAS","Monoclonal MCAS"],[997,"monocular esotropia"],[1392,"monocular exotropia"],[4600,"monocytic leukemia"],[4899,"monofixation syndrome"],[11224,"Monomelic amyotrophy","Benign focal amyotrophy","Hirayama disease","JMADUE","Juvenile muscular atrophy of distal upper extremity","Juvenile muscular atrophy of the distal upper limb"],[958096,"Monomorphic epitheliotropic intestinal T-cell lymphoma","Enteropathy-associated T-cell lymphoma type 2","MEITL"],[10538,"Mononen-Karnes-Senac syndrome","Skeletal dysplasia-brachydactyly syndrome"],[2128,"mononeuritis multiplex"],[13481,"Monosomy 13q14 syndrome","Del(13)(q14)","Deletion 13q14","chromosome 13q14 deletion syndrome"],[19902,"Monosomy 13q34 syndrome","Del(13)(q34)","Distal deletion 13q34","Subtelomeric deletion 13q34","monosomy 13q34"],[7800,"Monosomy 18p syndrome","18p- syndrome","De Grouchy syndrome type 1","chromosome 18p deletion syndrome"],[11147,"Monosomy 18q syndrome","18q deletion syndrome","18q- syndrome","De Grouchy syndrome type 2","Deletion 18q","chromosome 18q deletion syndrome"],[19891,"Monosomy 22 syndrome","Del(22)","Deletion 22","monosomy 22"],[7404,"Monosomy 5p syndrome","Cri du chat syndrome","Deletion 5p","Cri-du-chat syndrome"],[8013,"Monosomy 9p syndrome","9p deletion syndrome","9p- syndrome","Alfi syndrome","chromosome 9p deletion syndrome"],[19179,"Monosomy 9q22.3 syndrome","Microdeletion 9q22.3","monosomy 9q22.3"],[20466,"Monosomy X syndrome","monosomy X"],[19665,"Monostotic fibrous dysplasia","Jaffe-Lichtenstein disease"],[5371,"mood disorder"],[1032,"Mooren ulcer"],[7766,"Morgagni-Stewart-Morel syndrome","Hyperostosis frontalis interna"],[12423,"MORM syndrome","Intellectual disability-truncal obesity-retinal dystrophy-micropenis syndrome"],[18169,"Morning glory disc anomaly","Ectasic coloboma","Morning glory syndrome"],[8718,"Morvan syndrome","Limbic encephalitis-neuromyotonia-hyperhidrosis-polyneuropathy syndrome","Morvan fibrillary chorea"],[18007,"Mosaic genome-wide paternal uniparental disomy syndrome","Androgenetic/biparental mosaicism","Genome-wide paternal uniparental disomy mosaicism","Mosaic genome-wide paternal UPD","mosaic genome-wide paternal uniparental disomy"],[859007,"Mosaic Legius syndrome","Mosaic NF1-like syndrome","Mosaic neurofibromatosis 1-like syndrome"],[20467,"Mosaic monosomy X syndrome","mosaic monosomy X"],[859763,"Mosaic neurofibromatosis type 1","MNF1","Mosaic NF1"],[859764,"Mosaic NF2-related schwannomatosis","MNF2","Mosaic NF2","Mosaic neurofibromatosis type 2"],[859765,"Mosaic schwannomatosis","MNF3","Mosaic SWN","Mosaic neurilemmomatosis","Mosaic neurofibromatosis type 3"],[15706,"Mosaic trisomy 1 syndrome","Mosaic trisomy chromosome 1","Trisomy 1 mosaicism","mosaic trisomy 1"],[19868,"Mosaic trisomy 10 syndrome","Mosaic trisomy chromosome 10","Trisomy 10 mosaicism","mosaic trisomy 10"],[15718,"Mosaic trisomy 12 syndrome","Mosaic trisomy chromosome 12","Trisomy 12 mosaicism","mosaic trisomy 12"],[15725,"Mosaic trisomy 14 syndrome","Mosaic trisomy chromosome 14","Trisomy 14 mosaicism","mosaic trisomy 14"],[15727,"Mosaic trisomy 15 syndrome","Mosaic trisomy chromosome 15","Trisomy 15 mosaicism","mosaic trisomy 15"],[15729,"Mosaic trisomy 16 syndrome","Mosaic trisomy chromosome 16","Trisomy 16 mosaicism","mosaic trisomy 16"],[15730,"Mosaic trisomy 17 syndrome","Mosaic trisomy chromosome 17","Trisomy 17 mosaicism","mosaic trisomy 17"],[15763,"Mosaic trisomy 2 syndrome","Mosaic trisomy chromosome 2","Trisomy 2 mosaicism","mosaic trisomy 2"],[15764,"Mosaic trisomy 20 syndrome","Mosaic trisomy chromosome 20","Trisomy 20 mosaicism","mosaic trisomy 20"],[19869,"Mosaic trisomy 22 syndrome","Mosaic trisomy chromosome 22","Trisomy 22 mosaicism","mosaic trisomy 22"],[15060,"Mosaic trisomy 3 syndrome","Mosaic trisomy chromosome 3","Trisomy 3 mosaicism","mosaic trisomy 3"],[19865,"Mosaic trisomy 4 syndrome","Mosaic trisomy chromosome 4","Trisomy 4 mosaicism","mosaic trisomy 4"],[19866,"Mosaic trisomy 5 syndrome","Mosaic trisomy chromosome 5","Trisomy 5 mosaicism","mosaic trisomy 5"],[15771,"Mosaic trisomy 7 syndrome","Mosaic trisomy chromosome 7","Trisomy 7 mosaicism","mosaic trisomy 7"],[19867,"Mosaic trisomy 8 syndrome","Mosaic trisomy chromosome 8","Trisomy 8 mosaicism","Warkany syndrome","mosaic trisomy 8"],[20490,"Mosaic trisomy 9 syndrome","Mosaic trisomy chromosome 9","Trisomy 9 mosaicism","mosaic trisomy 9"],[141,"Mosaic variegated aneuploidy syndrome","Warburton-Anyane-Yeboa syndrome"],[20601,"mosquito-borne viral encephalitis"],[8015,"motion sickness"],[859324,"Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome","ARPC4-related syndrome","developmental delay, language impairment, and ocular abnormalities"],[20128,"Motor neuron disease","Anterior horn cell disease","motor neuron disorder"],[10148,"Mounier-Kühn syndrome","Congenital tracheobronchomegaly","Idiopathic tracheobronchomegaly","Tracheobronchomegaly","Mounier-Kuhn syndrome"],[9341,"Mowat-Wilson syndrome","Hirschsprung disease-intellectual disability syndrome"],[16856,"Mowat-Wilson syndrome due to a ZEB2 point mutation","Hirschsprung disease and intellectual disability due to a ZEB2 point mutation"],[16855,"Mowat-Wilson syndrome due to monosomy 2q22","Hirschsprung disease and intellectual disability due to 2q22 microdeletion","Hirschsprung disease and intellectual disability due to del(2)(q22)","Hirschsprung disease and intellectual disability due to monosomy 2q22","Mowat-Wilson syndrome due to 2q22 microdeletion","Mowat-Wilson syndrome due to del(2)q(22)"],[10448,"Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome","Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism"],[16820,"Moyamoya disease","Idiopathic Moyamoya disease"],[14331,"Moyamoya disease with early-onset achalasia"],[12211,"MPDU1-CDG","CDG syndrome type If","CDG-If","CDG1F","Carbohydrate deficient glycoprotein syndrome type If","Congenital disorder of glycosylation type 1f","Congenital disorder of glycosylation type If","MPDU1-congenital disorder of glycosylation"],[11257,"MPI-CDG","CDG syndrome type Ib","CDG-Ib","CDG1B","Carbohydrate deficient glycoprotein syndrome type Ib","Congenital disorder of glycosylation type 1b","Congenital disorder of glycosylation type Ib","Phosphomannose isomerase deficiency","MPI-congenital disorder of glycosylation"],[16979,"MRCS syndrome","Microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome"],[44300,"MSH3-related polyposis","MSH3-related adenomatous polyposis","familial adenomatous polyposis 4"],[17917,"MT-ATP6-related mitochondrial spastic paraplegia","Maternally-inherited SPG","Maternally-inherited spastic paraplegia"],[32705,"MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome","neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination"],[15044,"Mu-heavy chain disease","mu-HCD"],[20726,"MUC1-related autosomal dominant tubulointerstitial kidney disease","ADTKD-MUC1","MCKD1","MUC1-related medullary cystic kidney disease","MUCI-related ADTKD","Medullary cystic kidney disease type 1","tubulointerstitial kidney disease, autosomal dominant, 2"],[5601,"Mucinous adenocarcinoma of ovary","Ovarian mucinous adenocarcinoma"],[18330,"Mucinous adenocarcinoma of the appendix","Appendiceal mucinous adenocarcinoma"],[18523,"Mucinous cystadenocarcinoma of the pancreas","Pancreatic mucinous cystadenocarcinoma","pancreatic mucinous cystadenoma"],[35404,"Mucinous cystadenoma of childhood","Mucinous cystadenoma of ovary in childhood"],[3011,"Mucinous tubular and spindle cell renal carcinoma","mucinous tubular and spindle renal cell carcinoma"],[8633,"Muckle-Wells syndrome","Neutrophilic urticaria"],[1600,"mucocele of salivary gland"],[5859,"mucocutaneous leishmaniasis"],[10842,"Mucocutaneous venous malformations","Cutaneous and mucosal venous malformation","VMCM","multiple cutaneous and mucosal venous malformations"],[9650,"Mucolipidosis type II","I-cell disease","Mucolipidosis type II alpha/beta","N-acetylglucosamine 1-phosphotransferase deficiency"],[18931,"Mucolipidosis type III alpha/beta","ML 3 alpha/beta","ML III alpha/beta","Mucolipidosis type 3 alpha/beta","mucolipidosis type III, alpha/beta"],[9652,"Mucolipidosis type III gamma","ML 3 gamma","ML III gamma","Mucolipidosis type 3 gamma","GNPTG-mucolipidosis"],[9653,"Mucolipidosis type IV"],[1586,"Mucopolysaccharidosis type 1","Alpha-L-iduronidase deficiency","MPS1","MPSI","Mucopolysaccharidosis type I"],[30524,"Mucopolysaccharidosis type 10","MPS10","MSP type X","Mucopolysaccharidosis due to ARSK deficiency","Mucopolysaccharidosis type X","mucopolysaccharidosis, type 10"],[10674,"Mucopolysaccharidosis type 2","Hunter syndrome","Iduronate 2-sulfatase deficiency","MPS2","MPSII","Mucopolysaccharidosis type II"],[16316,"Mucopolysaccharidosis type 2, attenuated form","Hunter syndrome type B","Iduronate 2-sulfatase deficiency type B","MPS2B","MPSIIB","Mucopolysaccharidosis type 2, non-neuropathic form","Mucopolysaccharidosis type 2, slowly progressive form","Mucopolysaccharidosis type 2B","Mucopolysaccharidosis type II, attenuated form","Mucopolysaccharidosis type IIB"],[16315,"Mucopolysaccharidosis type 2, severe form","Hunter syndrome type A","Iduronate 2-sulfatase deficiency type A","MPS2A","MPSIIA","Mucopolysaccharidosis type 2, early progressive form","Mucopolysaccharidosis type 2, neuropathic form","Mucopolysaccharidosis type 2A","Mucopolysaccharidosis type II, severe form","Mucopolysaccharidosis type IIA"],[18937,"Mucopolysaccharidosis type 3","MPS3","MPSIII","Mucopolysaccharidosis type III","Sanfilippo disease","Sanfilippo syndrome"],[18938,"Mucopolysaccharidosis type 4","MPS4","MPSIV","Morquio disease","Mucopolysaccharidosis type IV"],[9659,"Mucopolysaccharidosis type 4A","GALNS deficiency","Galactosamine-6-sulfatase deficiency","MPS4A","MPSIVA","Morquio disease type A","Mucopolysaccharidosis type IVA","N-acetylgalactosamine-6-sulfate sulfatase deficiency"],[9660,"Mucopolysaccharidosis type 4B","Beta-D-galactosidase deficiency","MPS4B","MPSIVB","Morquio disease type B","Mucopolysaccharidosis type IVB"],[9661,"Mucopolysaccharidosis type 6","ARSB deficiency","ASB deficiency","Arylsulfatase B deficiency","MPS6","MPSVI","Maroteaux-Lamy disease","Mucopolysaccharidosis type VI","N-acetylgalactosamine 4-sulfatase deficiency"],[17171,"Mucopolysaccharidosis type 6, rapidly progressing","Arylsulfatase B deficiency, rapidly progressing","MPS6, rapidly progressing","MPSVI, rapidly progressing","Mucopolysaccharidosis type VI, rapidly progressing"],[17172,"Mucopolysaccharidosis type 6, slowly progressing","Arylsulfatase B deficiency, slowly progressing","MPS6, slowly progressing","MPSVI, slowly progressing","Mucopolysaccharidosis type VI, slowly progressing"],[9662,"Mucopolysaccharidosis type 7","Beta-glucuronidase deficiency","MPS7","MPSVII","Mucopolysaccharidosis type VII","Sly disease"],[15012,"Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders","Mucopolysaccharidosis-like plus disease","mucopolysaccharidosis-plus syndrome"],[18746,"Mucous membrane pemphigoid","Cicatricial pemphigoid","Mucosal pemphigoid","Mucosynechial pemphigoid"],[35452,"Mueller-Weiss syndrome","Brailsford disease","Mueller-Weiss osteonecrosis of the tarsal bone"],[11274,"Muenke syndrome"],[9664,"Mulibrey nanism","MUL","Mulibrey growth disorder","Muscle-liver-brain-eye nanism"],[8152,"Multicentric carpo-tarsal osteolysis with or without nephropathy","Idiopathic multicentric osteolysis with or without nephropathy"],[18298,"Multicentric osteolysis-nodulosis-arthropathy spectrum"],[15347,"Multicentric reticulohistiocytosis","Giant cell histiocytomatosis","Lipoid dermatoarthritis"],[15988,"Multicystic dysplastic kidney","MCDK","Multicystic renal dysplasia"],[17988,"Multifocal atrial tachycardia","Chaotic atrial tachycardia","MAT"],[16237,"Multifocal infantile hemangioma with extracutenous involvement","Diffuse neonatal hemangiomatosis","Multifocal infantile haemangioma with extracutenous involvement"],[18735,"Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome","Cutaneovisceral angiomatosis-thrombocytopenia syndrome","MLT","Multifocal lymphangioendotheliomatosis with thrombocytopenia"],[18979,"Multifocal motor neuropathy","MMN","MMNCB","Multifocal motor neuropathy with conduction block"],[20382,"Multifocal pattern dystrophy simulating fundus flavimaculatus","Multifocal pattern dystrophy simulating Stargardt disease"],[957465,"Multifocal tuberculosis"],[3010,"Multilocular cystic renal neoplasm of low malignant potential","MCRCC","Multilocular clear cell adenocarcinoma","Multilocular clear cell carcinoma","Multilocular clear cell renal cell adenocarcinoma","Multilocular clear cell renal cell carcinoma","Multilocular cystic renal cell adenocarcinoma","Multilocular cystic renal cell carcinoma"],[19983,"Multiloculated renal cyst","Multilocular cyst of the kidney","Multilocular renal cyst"],[18948,"Multiminicore myopathy","MmD","Multiminicore disease"],[7680,"Multinodular goiter-cystic kidney-polydactyly syndrome","Daneman-Davy-Mancer syndrome","Thyroid-renal-digital anomalies"],[9359,"Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome","MARCH syndrome"],[9282,"Multiple acyl-CoA dehydrogenase deficiency","Glutaric acidemia type 2","Glutaric aciduria type 2","MAD deficiency","MADD"],[18333,"Multiple acyl-CoA dehydrogenase deficiency, mild type","Glutaric aciduria type 2, mild type","MAD deficiency, mild type","MADD, mild type"],[18332,"Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type","Glutaric aciduria type 2, severe neonatal type","MAD deficiency, severe neonatal type","MADD, severe neonatal type"],[7990,"Multiple benign circumferential skin creases on limbs","CCSF","Circumferential skin creases, Kunze type","Congenital circumferential skin folds","Kunze-Riehm syndrome"],[15454,"multiple carboxylase deficiency"],[13563,"Multiple congenital anomalies-hypotonia-seizures syndrome","Congenital disorder of glycosylation due to PIGN deficiency","PIGN-CDG","multiple congenital anomalies-hypotonia-seizures syndrome 1"],[10466,"Multiple congenital anomalies-hypotonia-seizures syndrome type 2","multiple congenital anomalies-hypotonia-seizures syndrome 2"],[971007,"Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome","PRR12-related neuroocular syndrome","neuroocular syndrome 1"],[17169,"Multiple endocrine neoplasia","MEN"],[7540,"Multiple endocrine neoplasia type 1","MEN1","Wermer syndrome"],[19003,"Multiple endocrine neoplasia type 2","MEN2"],[8234,"Multiple endocrine neoplasia type 2A","MEN2A","PTC syndrome","Sipple syndrome"],[8082,"Multiple endocrine neoplasia type 2B","MEN2B","Multiple endocrine neoplasia type 3","Wagenmann-Froboese syndrome"],[12552,"Multiple endocrine neoplasia type 4","MEN4"],[15627,"Multiple epiphyseal dysplasia due to collagen 9 anomaly"],[7561,"Multiple epiphyseal dysplasia type 1","EDM1","MED1","Polyepiphyseal dysplasia type 1"],[9189,"Multiple epiphyseal dysplasia type 4","Autosomal recessive multiple epiphyseal dysplasia","EDM4","MED4","Polyepiphyseal dysplasia type 4","rMED"],[11765,"Multiple epiphyseal dysplasia type 5","BHMED","Bilateral hereditary micro-epiphyseal dysplasia","EDM5","MED5","Polyepiphyseal dysplasia type 5"],[54680,"Multiple epiphyseal dysplasia type 7","CANT1-related multiple epiphyseal dysplasia","EDM7","MED7","epiphyseal dysplasia, multiple, 7"],[11109,"Multiple epiphyseal dysplasia, Lowry type","Multiple epiphyseal dysplasia with Robin phenotype"],[11778,"Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome","Multiple epiphyseal dysplasia, Al-Gazali type"],[12254,"Multiple epiphyseal dysplasia-miniepiphyses syndrome","multiple epiphyseal dysplasia, with miniepiphyses"],[12253,"Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome","multiple epiphyseal dysplasia, with severe proximal femoral dysplasia"],[971128,"Multiple evanescent white dot syndrome","MEWDS"],[11582,"Multiple mitochondrial dysfunctions syndrome type 1","MMDS1","NFU1 deficiency","multiple mitochondrial dysfunctions syndrome 1"],[13675,"Multiple mitochondrial dysfunctions syndrome type 2","BOLA3 deficiency","MMDS2","multiple mitochondrial dysfunctions syndrome 2"],[14132,"Multiple mitochondrial dysfunctions syndrome type 3","IBA57 deficiency","MMDS3","multiple mitochondrial dysfunctions syndrome 3"],[14611,"Multiple mitochondrial dysfunctions syndrome type 4","MMDS4","multiple mitochondrial dysfunctions syndrome 4"],[33282,"Multiple mitochondrial dysfunctions syndrome type 5","ISCA1 deficiency","MMDS5","multiple mitochondrial dysfunctions syndrome 5"],[54785,"Multiple mitochondrial dysfunctions syndrome type 6","PMPCB deficiency","multiple mitochondrial dysfunctions syndrome 6"],[9693,"Multiple myeloma","Kahler disease","Medullary plasmacytoma","Myelomatosis","Plasma cell myeloma"],[5508,"Multiple osteochondromas","Bessel-Hagen disease","Multiple cartilaginous exostoses","hereditary multiple osteochondromas"],[1159,"multiple personality disorder"],[9012,"Multiple pterygium-malignant hyperthermia syndrome","Froster-Iskenius-Waterson-Hall syndrome","Malignant hyperthermia-arthrogryposis-torticollis syndrome"],[5301,"multiple sclerosis"],[17837,"Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome"],[7566,"Multiple self-healing squamous epithelioma","Familial primary self-healing squamous epithelioma of the skin, Ferguson-Smith type","Ferguson-Smith disease","MSSE","Multiple keratoacanthoma, Ferguson-Smith type","Self-healing squamous epithelioma type 1"],[10088,"Multiple sulfatase deficiency","Austin disease","MSD","Mucosulfatidosis"],[7908,"Multiple symmetric lipomatosis","Cephalothoracic lipodystrophy","Familial benign cervical lipomatosis","Launois-Bensaude lipomatosis","Madelung disease"],[17923,"Multiple synostoses syndrome","Deafness-Hermann type symphalangism syndrome","Facio-audio-symphalangism","Hearing loss-Hermann type symphalangism syndrome","Symphalangism-brachydactyly syndrome","WL syndrome"],[7803,"Multiple system atrophy"],[16418,"Multiple system atrophy, cerebellar type","Sporadic OPCA type 1","Sporadic olivopontocerebellar atrophy type 1","MSA, cerebellar type","MSA-c"],[20352,"Multiple system atrophy, parkinsonian type","MSA, parkinsonian type","MSA-p"],[35375,"Multisystem inflammatory syndrome in children and adults","MIS-C/A"],[975909,"Multisystem Langerhans cell histiocytosis","Multisystem Langerhans cell granulomatosis","Multisystem histiocytosis X"],[13452,"Multisystemic smooth muscle dysfunction syndrome"],[989,"mumps infectious disease"],[330,"Murine typhus","Endemic typhus","Flea-borne typhus"],[1137,"Murray valley encephalitis"],[12289,"Muscle filaminopathy","FLNC-associated myofibrillar myopathy","Filamin C-related filaminopathy","MFM5","myofibrillar myopathy 5"],[3939,"muscle tissue disorder"],[18939,"Muscle-eye-brain disease","MEB syndrome","Muscle-eye-brain syndrome","Santavuori congenital muscular dystrophy"],[18280,"Muscle-eye-brain disease with bilateral multicystic leucodystrophy","MEB disease with bilateral multicystic leucodystrophy"],[8023,"Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome","Furukawa-Takagi-Nakao syndrome"],[20121,"Muscular dystrophy"],[17932,"Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome"],[16521,"Muscular pseudohypertrophy-hypothyroidism syndrome","Hoffmann syndrome","Kocher-Debré-Semelaigne syndrome"],[11142,"Musculocontractural Ehlers-Danlos syndrome","Adducted thumb-clubfoot syndrome","Distal arthrogryposis with peculiar facies and hydronephrosis","Dündar syndrome","Ehlers-Danlos syndrome, Kosho type","Musculocontractural EDS","mcEDS","Ehlers-Danlos syndrome, musculocontractural type"],[9748,"Mutilating hereditary sensory neuropathy with spastic paraplegia","Mutilating HSAN with spastic paraplegia","hereditary sensory and autonomic neuropathy with spastic paraplegia"],[31421,"Mutilating palmoplantar keratoderma with periorificial keratotic plaques","Mutilating palmoplantar hyperkeratosis with periorificial keratotic plaques","Olmsted syndrome","Palmoplantar and periorificial keratoderma"],[12041,"MUTYH-related polyposis","MUTYH-related adenomatous polyposis","familial adenomatous polyposis 2"],[16822,"Myalgia-eosinophilia syndrome associated with tryptophan"],[9688,"Myasthenia gravis","Acquired myasthenia","Autoimmune myasthenia gravis"],[44682,"MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome","MYBPC1-related autosomal recessive non-lethal AMC syndrome"],[16823,"Mycetoma","Madura foot"],[17055,"Mycophenolate mofetil embryopathy","MMF embryopathy"],[19377,"Mycoplasma encephalitis"],[5867,"Mycoplasma pneumoniae pneumonia"],[15821,"Mycosis fungoides and variants"],[1033,"mycotic corneal ulcer"],[970964,"Myelic limited dorsal malformation","MyeLDM"],[17077,"Myelocystocele"],[19454,"Myelodysplastic neoplasm with increased blasts","MDS with excess blasts","MDS-IB","RAEB","Refractory anemia with excess blasts","myelodysplastic syndrome with excess blasts"],[15040,"Myelodysplastic neoplasm with increased blasts type 1","MDS-IB1","RAEB-1","Refractory anemia with excess blasts type 1","myelodysplastic syndrome with excess blasts-1"],[15041,"Myelodysplastic neoplasm with increased blasts type 2","MDS-IB2","RAEB-2","Refractory anemia with excess blasts type 2","myelodysplastic syndrome with excess blasts-2"],[5272,"Myelodysplastic neoplasm with low blasts","MDS-LB","Refractory anemia","myelodysplastic syndrome with single lineage dysplasia"],[18881,"myelodysplastic syndrome"],[7925,"Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality","5q- syndrome","myelodysplastic syndrome associated with isolated del(5q)"],[19453,"myelodysplastic syndrome with multilineage dysplasia"],[4643,"myeloid leukemia"],[6861,"Myeloid sarcoma","Chloroma","Extramedullary myeloid tumor","Granulocytic sarcoma"],[13296,"Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement","8p11 myeloproliferative syndrome","Stem cell leukemia/lymphoma","myeloid neoplasm associated with FGFR1 rearrangement"],[35121,"Myeloid/lymphoid neoplasm associated with JAK2 rearrangement","Myeloid/lymphoid neoplasms with PCM1-JAK2"],[15689,"Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement","myeloid neoplasm associated with PDGFRA rearrangement"],[15690,"Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement","myeloid neoplasm associated with PDGFRB rearrangement"],[9694,"Myeloperoxidase deficiency","MPO deficiency"],[5868,"myelophthisic anemia"],[958076,"Myeloschisis"],[13711,"MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome","Peripheral neuropathy-myopathy-hoarseness-deafness syndrome","peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome"],[15912,"MYH9-related syndromic thrombocytopenia","macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss"],[7688,"Myhre syndrome","Facial dysmorphism-intellectual disability-short stature-deafness syndrome","Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome","Myhre-LAPS syndrome","Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome"],[19147,"Myiasis"],[18804,"MYO5B-related progressive familial intrahepatic cholestasis","MYO5B deficiency"],[5068,"myocardial infarction"],[24644,"myocardial ischemia"],[4496,"myocarditis"],[100566,"Myoclonic epilepsy of infancy","Benign myoclonic epilepsy of infancy","Benign myoclonus epilepsy of infancy","MEI","myoclonic epilepsy in infancy"],[8043,"Myoclonus-cerebellar ataxia-deafness syndrome","Myoclonus-cerebellar ataxia-hearing loss syndrome"],[903,"Myoclonus-dystonia syndrome","Alcohol-responsive dystonia","Hereditary essential myoclonus","Myoclonic dystonia"],[34022,"Myopathic Ehlers-Danlos syndrome","EDS/myopathy overlap syndrome","Myopathic EDS","Bethlem myopathy 2"],[15191,"Myopathic intestinal pseudoobstruction"],[10773,"Myopathy and diabetes mellitus","mitochondrial myopathy with diabetes"],[4746,"myopathy of extraocular muscle"],[15755,"Myopathy with hexagonally cross-linked tubular arrays"],[17349,"Myopericytoma"],[1384,"myopia"],[9714,"Myosclerosis","Congenital myosclerosis, Löwenthal type"],[18889,"Myosin storage myopathy","Hyaline body myopathy"],[4881,"myositis fibrosa"],[17628,"Myospherulosis","Spherulocytosis","Subcutaneous spherulocystic disease"],[20481,"Myotonia fluctuans","Exercise-induced delayed-onset myotonia","Fluctuating myotonia"],[20482,"Myotonia permanens"],[16107,"Myotonic dystrophy"],[1803,"myringitis bullosa hemorrhagica"],[957477,"MYT1L-related developmental delay-intellectual disability-obesity syndrome","MYT1L-associated neurodevelopmental disorder"],[19202,"Myxofibrosarcoma","Fibromyxosarcoma","Myxoid malignant fibrous histiocytoma"],[20561,"Myxoid/round cell liposarcoma","MRCLS"],[16699,"Myxopapillary ependymoma"],[7652,"Ménétrier disease","Giant hypertrophic gastritis","Hypoproteinemic hypertrophic gastropathy","gastric mucosal hypertrophy"],[8019,"Müllerian aplasia and hyperandrogenism","Müllerian duct failure and hyperandrogenism","WNT4 deficiency","mullerian aplasia and hyperandrogenism"],[9333,"Müllerian derivatives-lymphangiectasia-polydactyly syndrome","Urioste syndrome","mullerian derivatives-lymphangiectasia-polydactyly syndrome"],[7795,"Müllerian duct anomalies-limb anomalies syndrome","mullerian duct anomalies-limb anomalies syndrome"],[10686,"N syndrome"],[34121,"NAD(P)HX dehydratase deficiency","CARKD deficiency"],[20781,"NAD(P)HX epimerase deficiency","Apolipoprotein A-I binding protein deficiency","encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1"],[8059,"Naegeli-Franceschetti-Jadassohn syndrome","NFJ syndrome","Naegeli syndrome"],[7943,"Nager syndrome","Mandibulofacial dysostosis with preaxial limb anomalies","NAFD","Nager acrofacial dysostosis","Preaxial acrodysostosis"],[14460,"Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome","Ectodermal dysplasia-short stature syndrome","Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome"],[8061,"Nail-patella syndrome"],[9724,"Nail-patella-like renal disease","Salcedo syndrome"],[10545,"Nance-Horan syndrome"],[12495,"NANS-CDG","SEMD, Geneviève type","SEMDG","N-acetylneuraminic acid-9-phosphate synthase deficiency","Spondyloepimetaphyseal dysplasia Camera-Genevieve type","Spondyloepimetaphyseal dysplasia, Geneviève type","spondyloepimetaphyseal dysplasia, Genevieve type"],[2411,"narcissistic personality disorder"],[21107,"narcolepsy"],[16158,"Narcolepsy type 1","Gélineau disease","Hypocretin/orexin deficiency syndrome","Narcolepsy-cataplexy","narcolepsy-cataplexy syndrome"],[19371,"Narcolepsy type 2","Narcolepsy without cataplexy"],[10794,"NARP syndrome","Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome","Neuropathy-ataxia-retinitis pigmentosa syndrome"],[1128,"nasal cavity cancer"],[6314,"nasal cavity polyp"],[10921,"Nasal dermoid cyst","Nasal dermoid sinus cyst"],[15410,"Nasal dorsum fistula","nasal dorsum fistula/cyst"],[15394,"Nasal encephalocele"],[15393,"Nasal ganglioglioma"],[15392,"Nasal glial heterotopia","Nasal glioma"],[15387,"Nasolacrimal duct cyst","Dacryocele","Dacryocystocele","Nasolacrimal mucocele"],[8182,"Nasopalpebral lipoma-coloboma syndrome"],[15459,"Nasopharyngeal carcinoma","NCP","Squamous cell carcinoma of the nasopharynx"],[20866,"nasopharyngeal diphtheria"],[15391,"Nasopharyngeal teratoma","Teratoma of the nasopharynx"],[9092,"Nasu-Hakola disease","NHD","PLO-SL","PLOSL","Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy","polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly"],[9721,"Nathalie syndrome","Deafness-cataract-skeletal anomalies syndrome","Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome"],[9722,"Native American myopathy","STAC3-related congenital myopathy","Bailey-Bloch congenital myopathy","Congenital myopathy-cleft palate-malignant hyperthermia syndrome"],[9747,"Navajo neurohepatopathy","Navajo neuropathy","mitochondrial DNA depletion syndrome 6 (hepatocerebral type)"],[11017,"Naxos disease","KWWH type I","Keratoderma with woolly hair type I","Keratosis palmoplantaris with arrythmogenic cardiomyopathy","Naxos syndrome","Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy","Palmoplantar keratoderma with arrythmogenic cardiomyopathy"],[11504,"NDE1-related microhydranencephaly","MHAC"],[5870,"necatoriasis"],[6583,"Necrobiosis lipoidica","Oppenheim-Urbach disease"],[15537,"Necrobiotic xanthogranuloma"],[5313,"Necrotizing enterocolitis"],[4835,"Necrotizing fasciitis"],[18602,"Necrotizing soft tissue infection","NSTI"],[14870,"NEK9-related lethal skeletal dysplasia","Lethal skeletal dysplasia-fetal akinesia-contractures-thoracic dysplasia-pulmonary hypoplasia syndrome"],[16035,"Nelson syndrome"],[18958,"nemaline myopathy"],[5566,"neonatal abstinence syndrome"],[9929,"Neonatal acute respiratory distress syndrome due to SP-B deficiency","Neonatal acute respiratory distress due to surfactant protein B deficiency","surfactant metabolism dysfunction, pulmonary, 1"],[18598,"Neonatal adrenoleukodystrophy","Intermediate PBD-ZSD","Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder","NALD","obsolete neonatal adrenoleukodystrophy"],[18739,"Neonatal alloimmune neutropenia"],[18357,"Neonatal antiphospholipid syndrome","Neonatal Hughes syndrome","Neonatal antiphospholipid antibody syndrome"],[18358,"Neonatal autoimmune hemolytic anemia","Neonatal AHA","Neonatal AIHA"],[15315,"Neonatal brainstem dysfunction"],[4824,"neonatal candidiasis"],[957432,"Neonatal compartment syndrome","CVIC","Congenital Volkmann ischemic contracture syndrome","NCS","Neonatal Volkmann ischemic contracture syndrome","Syndrome de Volkmann congénital"],[18359,"Neonatal dermatomyositis","Neonatal DM"],[16391,"Neonatal diabetes mellitus","Congenital diabetes mellitus","Diabetes of infancy","Monogenic diabetes of infancy","NDM"],[12436,"Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome","neonatal diabetes mellitus with congenital hypothyroidism"],[14562,"Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome","COQ4-related neonatal encephalomyopathy"],[32678,"Neonatal epileptic encephalopathy due to glutaminase deficiency","developmental and epileptic encephalopathy, 71"],[17411,"Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome","neonatal inflammatory skin and bowel disease"],[17353,"Neonatal glycine encephalopathy","Classic glycine encephalopathy","Neonatal NKH","Neonatal non-ketotic hyperglycinemia"],[9275,"Neonatal hemochromatosis"],[6663,"Neonatal hypoxic and ischemic brain injury","HIE","Hypoxic and ischemic brain injury in the newborn","Hypoxic-ischemic encephalopathy","Perinatal hypoxia","perinatal asphyxia"],[11874,"Neonatal ichthyosis-sclerosing cholangitis syndrome","IHSC","Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome","NISCH syndrome"],[1736,"neonatal infective mastitis"],[11601,"Neonatal intrahepatic cholestasis due to citrin deficiency","NICCD","Neonatal intrahepatic cholestasis caused by citrin deficiency"],[16554,"Neonatal iodine exposure"],[18360,"Neonatal lupus erythematosus"],[17309,"Neonatal Marfan syndrome","Neonatal MFS"],[971105,"Neonatal renal venous thrombosis","NRVT","Neonatal RVT"],[1207,"neonatal respiratory failure"],[18361,"Neonatal scleroderma"],[14775,"Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect","COXPD28","Combined oxidative phosphorylation defect type 28","combined oxidative phosphorylation deficiency 28"],[9397,"Neonatal severe primary hyperparathyroidism","NSHPT"],[5070,"neoplasm"],[19783,"Neovascular glaucoma"],[19004,"Nephroblastoma","Renal embryonic tumor","Wilms tumor","kidney Wilms tumor"],[10356,"Nephrogenic syndrome of inappropriate antidiuresis","NSIAD"],[15294,"Nephrogenic systemic fibrosis","Nephrogenic fibrosing dermopathy"],[19005,"Nephronophthisis"],[9729,"Nephropathy-deafness-hyperparathyroidism syndrome","Edwards-Patton-Dilly syndrome","Nephropathy-hearing loss-hyperparathyroidism syndrome","nephropathy - deafness - hyperparathyroidism syndrome"],[9731,"Nephrosis-deafness-urinary tract-digital malformations syndrome","Braun-Bayer syndrome","Nephrosis-hearing loss-urinary tract-digital malformations syndrome"],[5377,"nephrotic syndrome"],[12190,"Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome","EBS with nephropathy","Epidermolysis bullosa simplex with nephropathy","Nephrotic syndrome-hearing loss-epidermolysis bullosa syndrome","epidermolysis bullosa simplex 7, with nephropathy and deafness"],[5071,"nervous system disorder"],[13656,"NESCAV syndrome","Neurodegeneration-spasticity-cerebellar atrophy-cortical visual impairment syndrome","intellectual disability, autosomal dominant 9"],[13523,"Nestor-Guillermo progeria syndrome","NGPS"],[9735,"Netherton syndrome","Bamboo hair syndrome","Comèl-Netherton syndrome","NS"],[179,"Neu-Laxova syndrome"],[9736,"Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency","3-phosphoglycerate dehydrogenase deficiency, prenatal form","Neu-Laxova syndrome 1"],[35930,"Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency","3-phosphoserine phosphatase deficiency, prenatal form"],[14466,"Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency","Phosphoserine aminotransferase deficiency, prenatal form","Neu-Laxova syndrome 2"],[20416,"Neuhauser anomaly"],[7539,"Neuhauser-Eichner-Opitz syndrome","Recurrent encephalophathy of childhood","encephalopathy, recurrent, of childhood"],[17362,"Neuralgic amyotrophy","Acute brachial plexus neuritis","Brachial plexus neuritis","Immune brachial plexus neuropathy","Mononeuritis multiplex with brachial predilection","Neuralgic shoulder amyotrophy"],[17087,"Neurenteric cyst"],[5072,"Neuroblastoma"],[9578,"Neurocutaneous melanocytosis","NCM","Neurocutaneous melanosis"],[9603,"Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency","HIBCH deficiency","Methacrylic aciduria","Valine metabolic defect","3-hydroxyisobutyryl-CoA hydrolase deficiency"],[13110,"Neurodegenerative syndrome due to cerebral folate transport deficiency","Cerebral folate deficiency","Cerebral folate transport deficiency","Folate receptor alpha deficiency"],[6585,"neurodermatitis"],[859301,"Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome","HNRPH1-related neurodevelopmental disorder","Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects"],[859143,"Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome","Radio-Tartaglia syndrome","SPEN-related neurodevelopmental disorder"],[859200,"Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome","Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome","Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome","cerebellar ataxia, brain abnormalities, and cardiac conduction defects"],[60622,"Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome","DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome","DHX30-related neurodevelopmental disorder","neurodevelopmental disorder with severe motor impairment and absent language"],[10512,"Neurodevelopmental delay-intellectual disability-skeletal defects syndrome","HNRNPH2-Related Neurodevelopmental Disorder","intellectual disability, X-linked, syndromic, Bain type"],[60627,"Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome","GPAA1-related biosynthesis defect","glycosylphosphatidylinositol biosynthesis defect 15"],[859297,"Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome","HNRNPR-related neurodevelopmental disorder","neurodevelopmental disorder with dysmorphic facies and skeletal and brain abnormalities"],[18681,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome","Au-Kline syndrome","HNRNPK-related neurodevelopmental disorder","Okamoto syndrome","neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome"],[18131,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion","9q21.3 microdeletion syndrome","Del(9)(q21.3)","neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome due to 9q21 microdeletion"],[14700,"Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation","Au-Kline syndrome"],[958278,"Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome","SLC4A10-related neurodevelopmental disorder","neurodevelopmental disorder with hypotonia and characteristic brain abnormalities"],[9742,"Neuroectodermal melanolysosomal disease","Elejalde neuroectodermal melanolysosomal disease"],[5893,"Neuroendocrine carcinoma of pancreas","Pancreatic NEC","Pancreatic neuroendocrine carcinoma","Poorly-differentiated NEN of pancreas","Poorly-differentiated neuroendocrine neoplasm of pancreas","Poorly-differentiated pancreatic NEN","Poorly-differentiated pancreatic neuroendocrine neoplasm","pancreatic endocrine carcinoma"],[16322,"Neuroendocrine cell hyperplasia of infancy","NCHI","NEHI"],[15066,"Neuroendocrine neoplasm of appendix","Appendiceal NEN","Appendiceal neuroendocrine neoplasm","NEN of appendix","neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade"],[3649,"Neuroendocrine neoplasm of esophagus","Esophageal NEN","Esophageal neuroendocrine neoplasm","NEN of esophagus","esophageal neuroendocrine tumor"],[15069,"Neuroendocrine tumor of anal canal","NET of anal canal","neuroendocrine tumor of the anal canal"],[3111,"Neuroendocrine tumor of stomach","GNET","Gastric NET","Gastric neuroendocrine tumor","NET of stomach","gastric neuroendocrine neoplasm"],[2882,"Neuroendocrine tumor of the colon","Colonic NET","NET of the colon","Neuroendocrine neoplasm of the colon","colon neuroendocrine neoplasm"],[15068,"Neuroendocrine tumor of the rectum","NET of the rectum","Rectal NET","Rectal neuroendocrine tumor"],[9740,"Neurofaciodigitorenal syndrome","Freire Maia-Pinheiro-Opitz syndrome"],[11638,"Neuroferritinopathy","Adult basal ganglia disease","Ferritin-related neurodegeneration","Hereditary ferritinopathy"],[16755,"Neurofibroma"],[21061,"neurofibromatosis"],[18975,"Neurofibromatosis type 1"],[18208,"Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion","Von Recklinghausen disease due to NF1 mutation or intragenic deletion"],[11035,"Neurofibromatosis-Noonan syndrome","NFNS","Neurofibromatosis type 1-Noonan syndrome"],[8823,"Neurogenic arthrogryposis multiplex congenita","arthrogryposis multiplex congenita 2, neurogenic type"],[1935,"neurogenic arthropathy"],[8407,"Neurogenic scapuloperoneal syndrome, Kaeser type","Kaeser syndrome","Stark-Kaeser syndrome"],[15061,"Neurogenic thoracic outlet syndrome","NTOS","Neurogenic TOS","Neurogenic cervical rib syndrome","Neurogenic costoclavicular syndrome","Neurogenic thoracic outlet compression syndrome"],[19790,"Neuroleptic malignant syndrome"],[16101,"Neurolymphomatosis"],[19100,"Neuromyelitis optica spectrum disorder","Devic disease","NMOSD","neuromyelitis optica"],[35663,"Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies","NMOSD with anti-AQP4 antibodies","Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies"],[35664,"Neuromyelitis optica spectrum disorder with anti-MOG antibodies","NMOSD with anti-MOG antibodies","Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies"],[35665,"Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies","NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies","Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies"],[16295,"Neuronal ceroid lipofuscinosis"],[8000011,"Neuronal intestinal pseudoobstruction","visceral neuropathy, familial, 1, autosomal recessive"],[11327,"Neuronal intranuclear inclusion disease"],[32850,"Neurooculocardiogenitourinary syndrome","NOCGUS","Neuro-oculo-cardio-genito-urinary syndrome"],[100645,"neuropathy in cryoglobulinemia"],[100646,"neuropathy in endocrine disorder"],[15351,"Neuropathy with hearing impairment"],[4944,"neurosyphilis"],[1440,"neurotrophic keratoconjunctivitis"],[15290,"Neurotrophic keratopathy","Neurotrophic keratitis"],[10155,"Neutral lipid storage disease with ichthyosis","CDS","Chanarin-Dorfman syndrome","DCS","Dorfman-Chanarin syndrome","NLSDI","Dorfman-Chanarin disease"],[12545,"Neutral lipid storage disease with myopathy","Adipose triglyceride lipase deficiency","NLSDM","Neutral lipid storage disease type M","Neutral lipid storage disease with myopathy without ichthyosis","neutral lipid storage myopathy"],[17100,"Neutropenia-monocytopenia-deafness syndrome","Neutropenia-monocytopenia-hearing loss syndrome"],[18261,"NEVADA syndrome","Nevus epidermicus verrucosus with angiodysplasia and aneurysms"],[14873,"Nevus comedonicus syndrome"],[16985,"Nevus of Ito","Nevus fuscocaeruleus acromiodeltoideus"],[16984,"Nevus of Ota","Nevus fusculoceruleus ophthalmomaxillaris"],[18199,"New-onset refractory status epilepticus","NORSE"],[700081,"newborn respiratory distress syndrome"],[14697,"NFKB1-related immune dysregulation","Nuclear factor kappa B subunit 1-related immune dysregulation","immunodeficiency, common variable, 12"],[11053,"Nicolaides-Baraitser syndrome","Intellectual disability-sparse hair-brachydactyly syndrome"],[971103,"Nicolau syndrome","Embolia cutis medicamentosa","Livedo-like dermatitis"],[8575,"nicotine dependence"],[1982,"Niemann-Pick disease"],[18982,"Niemann-Pick disease type C"],[16310,"Niemann-Pick disease type C, adult neurologic onset"],[16309,"Niemann-Pick disease type C, juvenile neurologic onset","Niemann-Pick disease type C, classic form"],[16308,"Niemann-Pick disease type C, late infantile neurologic onset"],[16307,"Niemann-Pick disease type C, severe early infantile neurologic onset"],[16306,"Niemann-Pick disease type C, severe perinatal form"],[4588,"night blindness"],[15326,"Night blindness-skeletal anomalies-dysmorphism syndrome","Hunter-Thompson-Reed syndrome"],[9623,"Nijmegen breakage syndrome","AT V1","Ataxia-telangiectasia, variant 1","Berlin breakage syndrome","Immunodeficiency-microcephaly-chromosomal instability syndrome","Microcephaly-immunodeficiency-lymphoid malignancy syndrome","NBS","Seemanova syndrome type 2"],[13118,"Nijmegen breakage syndrome-like disorder","Microcephaly and chromosomal instability without immunodeficiency","NBS-like disorder","NBSLD","RAD50 deficiency"],[18642,"NIK deficiency","Primary immunodeficiency with multifaceted aberrant lymphoid immunity"],[20499,"Nipah virus disease","Nipah encephalitis","Nipah fever"],[16996,"NK-cell enteropathy"],[26733,"NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome","X-linked syndromic intellectual developmental disorder, Hackmann-Di Donato type","intellectual developmental disorder, X-linked, syndromic, Hackmann-Di Donato type"],[33043,"NKX6-2-related autosomal recessive hypomyelinating leukodystrophy","Autosomal recessive hypomyelinating leukodystrophy-progressive spastic ataxia","SPAX8","spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy"],[14498,"NLRC4-related familial cold autoinflammatory syndrome","FCAS4","Familial cold autoinflammatory syndrome 4","NLRC4-related familial cold urticaria"],[12724,"NLRP12-associated hereditary periodic fever syndrome","FCAS2","Familial cold autoinflammatory syndrome type 2","NAPS12","familial cold autoinflammatory syndrome 2"],[21081,"NMDA receptor encephalitis","Limbic encephalitis with N-methyl-D-aspartate receptor antibodies","Limbic encephalitis with NMDA receptor antibodies","N-methyl-D-aspartate receptor encephalitis","NMDARE","anti-NMDA receptor encephalitis"],[17776,"Nocardiosis"],[850065,"NOCARH syndrome","Neonatal-onset cytopenia-autoinflammation-rash episodes of HLH syndrome","Neonatal-onset cytopenia-autoinflammation-rash episodes of hemophagocytic lymphohistiocytosis syndrome","neonatal-onset severe multisystemic autoinflammatory disease with increased IL18"],[19465,"Nodal marginal zone B-cell lymphoma","NMZL"],[958095,"Nodal T-follicular helper cell lymphoma, follicular type","Follicular T-cell Lymphoma","Follicular helper T-cell lymphoma, follicular type","Nodal T-cell lymphoma with TFH phenotype","Nodal TFH lymphoma, follicular type","nTFHL-F"],[15302,"Nodular cutaneous amyloidosis","PLCNA","Primary localized cutaneous nodular amyloidosis"],[4170,"nodular episcleritis"],[4187,"Nodular fasciitis","Pseudosarcomatous fasciitis","Pseudosarcomatous fibromatosis"],[19578,"Nodular lichen myxedematosus","Atypical tuberous myxedema of Jadassohn-Dosseker"],[44778,"Nodular lymphocyte predominant Hodgkin lymphoma","NLPHL"],[16292,"Nodular neuronal heterotopia"],[18063,"Nodular non-suppurative panniculitis","Idiopathic lobular panniculitis","Idiopathic nodular panniculitis","Pfeiffer-Weber-Christian syndrome","Relapsing febrile nodular nonsuppurative panniculitis","Relapsing febrile nodular panniculitis","WCD","Weber-Christian disease","Weber-Christian panniculitis"],[18835,"Nodular regenerative hyperplasia of the liver","Non-cirrhotic nodulation"],[15556,"Nodular urticaria pigmentosa"],[17124,"Noma","Cancrum oris"],[7761,"NON RARE IN EUROPE: Hyperlipoproteinemia type 4","NON RARE IN EUROPE: Familial hypertriglyceridemia","NON RARE IN EUROPE: HLP type 4","obsolete hyperlipoproteinemia type IV"],[19137,"Non-24-hour sleep-wake syndrome","Hypernychthemeral syndrome"],[9091,"Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome","Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome","non-acquired combined pituitary hormone deficiency with spine abnormalities"],[50,"Non-acquired isolated growth hormone deficiency","Congenital IGHD","Congenital isolated GH deficiency","Congenital isolated growth hormone deficiency","isolated congenital growth hormone deficiency"],[19591,"Non-acquired panhypopituitarism","Genetic panhypopituitarism","panhypopituitarism"],[19990,"Non-amyloid fibrillary glomerulopathy","Congo red-negative amyloidosis-like glomerulopathy","Non-amyloid fibrillary glomerulonephritis"],[19463,"Non-amyloid monoclonal immunoglobulin deposition disease","Non-amyloid MIDD","Randall disease"],[17328,"Non-central nervous system-localized embryonal carcinoma","Non-CNS-localized embryonal carcinoma"],[17973,"Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency"],[15546,"Non-distal deletion 10q syndrome","Non-distal monosomy 10q","Non-telomeric monosomy 10q"],[19900,"Non-distal deletion 12q syndrome","Non-distal monosomy 12q","Non-telomeric monosomy 12q"],[15712,"Non-distal duplication 10q syndrome","Non-distal trisomy 10q","Non-telomeric trisomy 10q"],[15724,"Non-distal duplication 13q syndrome","Non-distal trisomy 13q","Non-telomeric trisomy 13q"],[19890,"Non-distal duplication 9q syndrome","Non-distal trisomy 9q","Non-telomeric trisomy 9q"],[10104,"Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome","Stoelinga-de Koomen-Davis syndrome"],[4334,"Non-functioning neuroendocrine tumor of pancreas","Non-functioning PNET","Non-functioning pancreatic NET","Non-functioning pancreatic neuroendocrine tumor","Non-functioning well-differentiated NEN of pancreas","Non-functioning well-differentiated neuroendocrine neoplasm of pancreas","Non-functioning well-differentiated pancreatic NEN","Non-functioning well-differentiated pancreatic neuroendocrine neoplasm","non-functional pancreatic neuroendocrine tumor"],[19788,"Non-functioning paraganglioma","non-secreting paraganglioma"],[19613,"Non-functioning pituitary adenoma","NFPA"],[968991,"Non-genetic central precocious puberty in male","Non-genetic CPP in boy","Non-genetic CPP in male","Non-genetic central precocious puberty in boy"],[18161,"Non-hereditary retinoblastoma"],[18009,"Non-hypoproteinemic hypertrophic gastropathy","Hypertrophic gastropathy without hypoproteinemia"],[9369,"Non-immune hydrops fetalis"],[19541,"Non-infectious posterior uveitis","Non-infectious choroiditis","obsolete non-infectious posterior uveitis"],[17189,"Non-insulinoma pancreatogenous hypoglycemia syndrome","NIPHS","adult-onset non-insulinoma persistent hyperinsulinemic hypoglycemia"],[15403,"Non-involuting congenital hemangioma","NICH","Non-involuting congenital haemangioma"],[19431,"Non-malignant and non-cirrhotic portal vein thrombosis","Non-cirrhotic and non-tumoral portal vein thrombosis","Non-malignant non-cirrhotic PVT","primitive portal vein thrombosis"],[700415,"Non-paraneoplastic sensory ganglionopathy"],[13886,"Non-progressive cerebellar ataxia with intellectual disability","cerebellar dysfunction with variable cognitive and behavioral abnormalities"],[18576,"Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy"],[18587,"Non-recovering obstetric brachial plexus lesion","Chronic obstetric brachial plexus injury","Chronic obstetric brachial plexus palsy","Non-recovering OBPI","Non-recovering OBPL"],[968989,"Non-saccular limited dorsal myeloschisis","Flat LDM","Non-saccular LDM"],[6447,"Non-seminomatous germ cell tumor of testis","Non-dysgerminomatous germ cell tumor of testis","Testicular non seminomatous germ cell tumor","Testicular non-dysgerminomatous germ cell tumor","testicular non-seminomatous germ cell tumor"],[850105,"Non-specific autoimmune brainstem encephalitis with characteristic antibodies","Non-specific autoimmune rhombencephalitis with characteristic antibodies","Non-specific autoimmune rhomboencephalitis with characteristic antibodies"],[850106,"Non-specific autoimmune brainstem encephalitis without characteristic antibodies","Non-specific autoimmune rhombencephalitis without characteristic antibodies","Non-specific autoimmune rhomboencephalitis without characteristic antibodies"],[850108,"Non-specific autoimmune cerebellar ataxia with characteristic antibodies","Non-specific autoimmune CA with characteristic antibodies"],[850109,"Non-specific autoimmune cerebellar ataxia without characteristic antibodies","Non-specific autoimmune CA without characteristic antibodies","PACA","Primary Autoimmune Cerebellar Ataxia"],[850102,"Non-specific autoimmune supratentorial encephalitis with characteristic antibodies","Non-specific supratentorial AE with characteristic antibodies"],[850103,"Non-specific autoimmune supratentorial encephalitis without characteristic antibodies","Non-specific supratentorial AE without characteristic antibodies"],[18614,"Non-specific early-onset epileptic encephalopathy","Non-specific EOEE","Undetermined EOEE","Undetermined early-onset epileptic encephalopathy"],[19622,"Non-specific interstitial pneumonia","NSIP","Non-specific idiopathic interstitial pneumonia"],[100038,"Non-specific syndromic intellectual disability","complex neurodevelopmental disorder"],[9340,"Non-spherocytic hemolytic anemia due to hexokinase deficiency"],[1212,"non-suppurative otitis media"],[16462,"Non-syndromic agammaglobulinemia","Non-syndromic hypogammaglobulinemia","isolated agammaglobulinemia"],[17419,"Non-syndromic amelia"],[35788,"Non-syndromic anal stenosis","Non-syndromic ARM with anal stenosis","Non-syndromic anorectal malformation with anal stenosis","obsolete non-syndromic anorectal malformation with anal stenosis"],[35787,"Non-syndromic anorectal malformation without fistula","Non-syndromic ARM without fistula","Non-syndromic anorectal malformation with no fistula","obsolete non-syndromic anorectal malformation without fistula"],[850082,"Non-syndromic bicoronal and metopic craniosynostosis","Isolated bicoronal and metopic craniosynostosis","Non-syndromic bilateral coronal and metopic suture synostosis"],[850083,"Non-syndromic bicoronal and sagittal craniosynostosis","Isolated bicoronal and sagittal craniosynostosis","Non-syndromic sagittal and bilateral coronal synostosis"],[18114,"Non-syndromic bicoronal craniosynostosis","Non-syndromic bilateral coronal suture synostosis","Isolated bicoronal craniosynostosis","Isolated synostotic brachycephaly","obsolete isolated brachycephaly"],[9034,"Non-syndromic bilambdoid and sagittal craniosynostosis","BLSS","Bilateral lambdoid and sagittal synostosis","Isolated sagittal and bilambdoid craniosynostosis","Non-syndromic sagittal and bilateral lambdoid synostosis","craniofacial dyssynostosis"],[850079,"Non-syndromic bilambdoid craniosynostosis","Isolated bilambdoid craniosynostosis","Isolated pachycephaly","Non-syndromic bilateral lambdoid synostosis"],[958267,"Non-syndromic bridging bronchus"],[35786,"Non-syndromic cloacal malformation","obsolete non-syndromic cloacal malformation"],[958268,"Non-syndromic congenital bronchial atresia","Non-syndromic CBA"],[35793,"Non-syndromic H-type fistula","Non-syndromic ARM with H-type fistula","Non-syndromic anorectal malformation with H-type fistula","obsolete non-syndromic anorectal malformation with h-type fistula"],[17173,"Non-syndromic male infertility due to sperm motility disorder","Non-syndromic male infertility due asthenozoospermia","obsolete non-syndromic male infertility due to sperm motility disorder"],[850081,"Non-syndromic metopic and sagittal craniosynostosis","Isolated metopic and sagittal craniosynostosis","Non-syndromic metopic and sagittal suture synostosis"],[18065,"Non-syndromic metopic craniosynostosis","Isolated metopic craniosynostosis","Isolated trigonocephaly","Non-syndromic metopic suture synostosis"],[850078,"Non-syndromic non-specific multisutural craniosynostosis","Isolated non-specific multisutural craniosynostosis","Non-syndromic non-specific multiple suture synostosis"],[850084,"Non-syndromic pansynostosis","Isolated pansynostosis","Non-syndromic synostosis of all cranial vault sutures"],[35780,"Non-syndromic perineal fistula","Non-syndromic ARM with perineal fistula","Non-syndromic anorectal malformation with perineal fistula","obsolete non-syndromic anorectal malformation with perineal fistula"],[19848,"Non-syndromic posterior hypospadias","Hypospadias, severe form","Perineal, scrotal or penoscrotal hypospadias","posterior hypospadias"],[35789,"Non-syndromic pouch colon","Non-syndromic ARM with pouch colon","Non-syndromic anorectal malformation with pouch colon","obsolete non-syndromic anorectal malformation with pouch colon"],[35790,"Non-syndromic rectal atresia","Non-syndromic ARM with rectal atresia","Non-syndromic anorectal malformation with rectal atresia","obsolete non-syndromic anorectal malformation with rectal atresia"],[35791,"Non-syndromic rectal stenosis","Non-syndromic ARM with rectal stenosis","Non-syndromic anorectal malformation with rectal stenosis","obsolete non-syndromic anorectal malformation with rectal stenosis"],[35781,"Non-syndromic rectourethral fistula","Non-syndromic ARM with rectourethral fistula","Non-syndromic anorectal malformation with rectourethral fistula","obsolete non-syndromic anorectal malformation with rectourethral fistula"],[35782,"Non-syndromic rectourethral fistula, bulbar type","Non-syndromic ARM with rectobulbar fistula","Non-syndromic ARM with rectourethral fistula, bulbar type","Non-syndromic anorectal malformation with rectobulbar fistula","Non-syndromic anorectal malformation with rectourethral fistula, bulbar type","Non-syndromic rectobulbar fistula"],[35783,"Non-syndromic rectourethral fistula, prostatic type","Non-syndromic ARM with rectoprostatic fistula","Non-syndromic ARM with rectourethral fistula, prostatic type","Non-syndromic anorectal malformation with rectoprostatic fistula","Non-syndromic anorectal malformation with rectourethral fistula, prostatic type","Non-syndromic rectoprostatic fistula"],[35792,"Non-syndromic rectovaginal fistula","Non-syndromic ARM with rectovaginal fistula","Non-syndromic anorectal malformation with rectovaginal fistula","obsolete non-syndromic anorectal malformation with rectovaginal fistula"],[35784,"Non-syndromic rectovesical fistula","Non-syndromic ARM with bladder neck fistula","Non-syndromic ARM with rectovesical fistula","Non-syndromic anorectal bladder neck fistula","Non-syndromic anorectal malformation with bladder neck fistula","Non-syndromic anorectal malformation with rectovesical fistula","obsolete non-syndromic anorectal malformation with rectovesical fistula"],[18112,"Non-syndromic sagittal craniosynostosis","Isolated sagittal craniosynostosis","Isolated scaphocephaly","Non-syndromic sagittal suture synostosis","obsolete isolated scaphocephaly"],[19530,"Non-syndromic syndactyly"],[850080,"Non-syndromic unicoronal and sagittal craniosynostosis","Isolated unicoronal and sagittal craniosynostosis","Non-syndromic unilateral coronal and sagittal suture synostosis"],[850073,"Non-syndromic unicoronal craniosynostosis","Isolated frontal plagiocephaly","Isolated unicoronal craniosynostosis","Non-syndromic anterior synostotic plagiocephaly","Non-syndromic frontoparietal craniosynostosis","Non-syndromic hemicoronal craniosynostosis","Non-syndromic unilateral coronal synostosis"],[850075,"Non-syndromic unifrontosphenoidal craniosynostosis","Isolated unifrontosphenoidal craniosynostosis","Isolated unilateral sphenofrontal suture synostosis","Non-syndromic unilateral frontosphenoidal suture synostosis"],[850074,"Non-syndromic unilambdoid craniosynostosis","Isolated occipital plagiocephaly","Isolated unilamboid craniosynostosis","Non-syndromic posterior synostotic plagiocephaly","Non-syndromic unilateral lambdoid synostosis"],[850076,"Non-syndromic unisquamosal craniosynostosis","Isolated unisquamosal craniosynostosis","Non-syndromic unilateral squamosal suture synostosis"],[35785,"Non-syndromic vestibular fistula","Non-syndromic ARM with vestibular fistula","Non-syndromic anorectal malformation with vestibular fistula","obsolete non-syndromic anorectal malformation with vestibular fistula"],[957451,"Non-terminal myelocystocele"],[958128,"Non-transplant-related bronchiolitis obliterans"],[2137,"noninfectious dermatoses of eyelid"],[18997,"Noonan syndrome"],[7893,"Noonan syndrome with multiple lentigines","Cardiomyopathic lentiginosis","Familial multiple lentigines syndrome","LEOPARD syndrome"],[13308,"Noonan syndrome-like disorder with juvenile myelomonocytic leukemia","CBL syndrome","Noonan syndrome-like disorder with JMML","CBL-related disorder"],[11899,"Noonan syndrome-like disorder with loose anagen hair","Mazzanti syndrome","NS/LAH"],[18555,"Normosmic congenital hypogonadotropic hypogonadism","Normosmic idiopathic hypogonadotropic hypogonadism","nIHH","hypogonadotropic hypogonadism"],[10691,"Norrie disease"],[7630,"North Carolina macular dystrophy","CAPE dystrophy","CAPED","Central areolar pigment epithelial dystrophy","Central retinal pigment epithelial dystrophy","MCDR1","NCMD","North Carolina macular dystrophy, retinal 1","Progressive foveal dystrophy"],[9966,"NPHP3-related Meckel-like syndrome","Goldston syndrome","Meckel syndrome type 7","Meckel-like syndrome type 1","Renal-hepatic-pancreatic dysplasia-Dandy-Walker cysts syndrome"],[13690,"NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance","Pitt-Hopkins-like syndrome 2"],[14630,"NTHL1-related polyposis","NTHL1-related adenomatous polyposis","familial adenomatous polyposis 3"],[17826,"Null pituitary adenoma"],[17225,"Null syndrome","PLP1 null syndrome","Pelizaeus-Merzbacher disease, null syndrome"],[5563,"NUT midline carcinoma","NMC"],[1788,"nutmeg liver"],[6873,"nutritional deficiency disease"],[342,"O'nyong'nyong fever"],[20559,"O'Sullivan-McLeod syndrome"],[14309,"Obesity due to CEP19 deficiency"],[13991,"Obesity due to congenital leptin deficiency"],[15825,"Obesity due to congenital leptin resistance","obsolete obesity due to congenital leptin resistance"],[13992,"Obesity due to leptin receptor gene deficiency"],[19115,"Obesity due to melanocortin 4 receptor deficiency","MC4R deficiency"],[12335,"Obesity due to pro-opiomelanocortin deficiency","POMC deficiency"],[10961,"Obesity due to prohormone convertase I deficiency","PCI deficiency"],[18244,"Obesity due to SIM1 deficiency"],[19506,"Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome"],[8114,"obsessive-compulsive disorder"],[1158,"obsessive-compulsive personality disorder"],[35251,"obsolete anomalous aortic origin of coronary artery"],[1932,"obsolete atrophic vulva"],[1012,"obsolete breast fibroadenosis"],[17495,"obsolete congenital absence of upper arm and forearm with hand present, bilateral"],[21145,"obsolete disorder of genitourinary system"],[31689,"obsolete genetic progeroid syndrome"],[866,"obsolete hereditary myoglobinuria"],[24583,"obsolete hernia"],[1946,"obsolete hyperestrogenism"],[26419,"obsolete isolated corpus callosum agenesis"],[3571,"obsolete labyrinthine dysfunction"],[24297,"obsolete nutritional or metabolic disease"],[5251,"obsolete pauciarticular juvenile rheumatoid arthritis"],[1424,"obsolete sarcoid meningitis"],[6516,"obsolete sarcopenia"],[44746,"obsolete zoonotic bacterial infection"],[1896,"obstructive hydrocephalus"],[7147,"obstructive sleep apnea syndrome"],[17080,"Occipital encephalocele"],[10572,"Occipital horn syndrome"],[4709,"occipital lobe neoplasm"],[13583,"Occipital pachygyria and polymicrogyria","Occipital MCD","Occipital malformations of cortical development"],[4858,"occlusion of gallbladder"],[13316,"Occult macular dystrophy","Miyake disease","OCMD","OMD"],[17304,"ocular albinism"],[10390,"Ocular albinism with late-onset sensorineural deafness","Ocular albinism with late-onset sensorineural hearing loss"],[14958,"Ocular anomalies-axonal neuropathy-developmental delay syndrome","Harel-Yoon syndrome"],[8109,"Ocular cicatricial pemphigoid"],[9064,"Ocular cystinosis","Adult-onset cystinosis","Non-nephropathic cystinosis"],[6875,"ocular hypertension"],[4390,"ocular hypotension"],[9764,"Ocular motor apraxia, Cogan type","Oculomotor apraxia, Cogan type"],[1355,"ocular siderosis"],[971056,"Ocular surface squamous neoplasia","OSSN"],[9769,"Oculo-palato-cerebral syndrome","Oculo-palato-cerebral dwarfism"],[12802,"Oculoauricular syndrome, Schorderet type","oculoauricular syndrome"],[11082,"Oculoauriculofrontonasal syndrome","OAFNS"],[7712,"Oculoauriculovertebral spectrum with radial defects","Hemifacial microsomia-radial defects syndrome","Moeschler-Clarren syndrome"],[9767,"Oculocerebral hypopigmentation syndrome, Cross type","Cross syndrome"],[9766,"Oculocerebral hypopigmentation syndrome, Preus type","oculocerebral hypopigmentation syndrome of Preus"],[8108,"Oculocerebrocutaneous syndrome","Delleman syndrome","Delleman-Oorthuys syndrome","Leichtman-Wood-Rohn syndrome","OCCS","Orbital cyst with cerebral and focal dermal malformations"],[9485,"Oculocerebrofacial syndrome, Kaufman type"],[10645,"Oculocerebrorenal syndrome of Lowe","Lowe disease","Lowe oculo-cerebro-renal dystrophy","Lowe oculo-cerebro-renal syndrome","Lowe oculocerebrorenal dystrophy","Lowe syndrome","OCRL","oculocerebrorenal syndrome"],[18910,"oculocutaneous albinism"],[18135,"Oculocutaneous albinism type 1","OCA1"],[8745,"Oculocutaneous albinism type 1A","OCA1A","Tyrosinase-negative oculocutaneous albinism"],[11749,"Oculocutaneous albinism type 1B","OCA1B","Oculocutaneous albinism, Amish type","Platinum oculocutaneous albinism","Yellow oculocutaneous albinism"],[8746,"Oculocutaneous albinism type 2","OCA2"],[8747,"Oculocutaneous albinism type 3","OCA3","Red oculocutaneous albinism","Rufous oculocutaneous albinism","Xanthous oculocutaneous albinism"],[11683,"Oculocutaneous albinism type 4","OCA4"],[14127,"Oculocutaneous albinism type 5","OCA5"],[18264,"Oculocutaneous albinism type 6","OCA6"],[14070,"Oculocutaneous albinism type 7","OCA7"],[30899,"Oculocutaneous albinism type 8","OCA8"],[20275,"Oculocutaneous or ocular albinism","obsolete oculocutaneous or ocular albinism"],[8396,"Oculodental syndrome, Rutherfurd type","Gingival hypertrophy-corneal dystrophy","Rutherfurd syndrome"],[8111,"Oculodentodigital dysplasia","Meyer-Schwickerath syndrome","Meyer-Schwickerath-Weyers syndrome","ODDD syndrome","ODOD syndrome","Oculo-dento-digital dysplasia","Oculodentodigital syndrome","Oculodentodigitalis dysplasia","Oculodentoosseous dysplasia","Osseous-oculo-dental dysplasia"],[10854,"Oculoectodermal syndrome","Aplasia cutis congenita-epibulbar dermoids syndrome","Toriello Lacassie Droste syndrome","Toriello-Lacassie-Droste syndrome"],[10261,"Oculofaciocardiodental syndrome","microphthalmia, syndromic 2"],[10181,"Oculogastrointestinal muscular dystrophy","Visceral myopathy-familial external ophthalmoplegia syndrome"],[36189,"Oculogastrointestinal-neurodevelopmental syndrome","OGIN Syndrome"],[1665,"oculoglandular tularemia"],[15824,"Oculomaxillofacial dysostosis","Richieri-Costa-Gorlin syndrome"],[8884,"Oculoosteocutaneous syndrome"],[20494,"Oculootodental syndrome","OOD"],[8116,"Oculopharyngeal muscular dystrophy","OPMD"],[25193,"Oculopharyngodistal myopathy","OPDM","Oculopharyngeal distal myopathy"],[34145,"Oculoskeletodental syndrome","Oculo-skeleto-dental syndrome","oculocerebrodental syndrome"],[9560,"Oculotrichoanal syndrome","MOTA syndrome","Manitoba oculotrichoanal syndrome","Marles syndrome","Marles-Greenberg-Persaud syndrome"],[9771,"Oculotrichodysplasia","Cecato de Lima-Pinheiro syndrome"],[17134,"Odonto-onycho dysplasia-alopecia syndrome"],[9773,"Odonto-onycho-dermal dysplasia","OODD"],[11171,"Odonto-tricho-ungual-digito-palmar syndrome","Odonto-tricho-ungual-digito-palmar syndrome, Mendoza-Valiente type","OTUDP syndrome"],[100325,"Odontochondrodysplasia","Chondrodysplasia-dentinogenesis imperfecta-joint laxity syndrome","Goldblatt chondrodysplasia","Goldblatt syndrome","ODCD","odontochondrodysplasia 1"],[16607,"Odontohypophosphatasia"],[19177,"Odontoleukodystrophy","Dentoleukoencephalopathy","Leukodystrophy with oligodontia"],[8118,"Odontomatosis-aortae esophagus stenosis syndrome","Bader syndrome"],[11034,"Odontomicronychial dysplasia"],[10111,"Odontotrichomelic syndrome","Freire-Maia syndrome"],[10457,"Ogden syndrome","Premature aging appearance-developmental delay-cardiac arrhythmia syndrome"],[19152,"Oguchi disease","Congenital stationary night blindness, Oguchi type","Oguchi syndrome"],[11812,"Okihiro syndrome","Duane-radial ray syndrome"],[16863,"Okihiro syndrome due to 20q13 microdeletion","Duane-radial ray syndrome due to monosomy 20q13","Okihiro syndrome due to del(20)(q13)","Okihiro syndrome due to monosomy 20q13"],[16864,"Okihiro syndrome due to a point mutation","Duane-radial ray syndrome due to a point mutation"],[14893,"Okur-Chung neurodevelopmental syndrome"],[1557,"olecranon bursitis"],[19433,"Oligoarticular juvenile idiopathic arthritis","Oligoarticular JIA","Pauciarticular chronic arthritis"],[16702,"Oligoastrocytoma, dual genotype","MOA","Mixed oligoastrocytoma","Oligoastrocytoma, dual genotype NEC","Oligoastrocytoma, dual genotype, not elsewhere classified","oligoastrocytoma"],[19151,"Oligocone trichromacy","Oligocone syndrome"],[16695,"Oligodendroglioma grade 2","Oligodendroglioma"],[16696,"Oligodendroglioma grade 3","Anaplastic oligodendroglioma"],[5486,"Oligodontia","Selective tooth agenesis","tooth agenesis"],[5881,"oligohydramnios"],[16407,"Oligomeganephronia","Oligomeganephronic renal hypoplasia"],[1913,"oligospermia"],[9777,"Oliver syndrome","Postaxial polydactyly-intellectual disability syndrome"],[17135,"Olivopontocerebellar atrophy-deafness syndrome","Olivopontocerebellar atrophy-hearing loss syndrome"],[8145,"Ollier disease","Enchondromatosis Spranger type I","Multiple Enchondromatosis type I","Multiple Enchondromatosis, Ollier type"],[11338,"Omenn syndrome","Combined immunodeficiency with hypereosinophilia"],[17136,"Omodysplasia"],[19015,"Omphalocele"],[8425,"Omphalocele syndrome, Shprintzen-Goldberg type"],[44649,"Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome","Gershoni-Baruch syndrome"],[18847,"Omphalomesenteric cyst"],[17882,"Omsk hemorrhagic fever"],[17137,"Onchocerciasis"],[18124,"Oncogenic osteomalacia","Oncogenic hypophosphatemic osteomalacia","TIO","Tumor-induced osteomalacia"],[17586,"Onychocytic matricoma","Acanthoma of the nail matrix"],[17587,"Onychomatricoma"],[17060,"Open iniencephaly"],[17062,"Open spinal dysraphism","spina bifida aperta"],[19773,"Open spinal dysraphism with a myelomeningocele","MMC","Myelomeningocele"],[5338,"open-angle glaucoma"],[4861,"ophthalmia nodosa"],[8127,"Ophthalmomandibulomelic dysplasia","OMM syndrome","Pillay syndrome"],[8130,"Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome","Levic-Stefanovic-Nikolic syndrome"],[5530,"opiate dependence"],[1225,"opioid abuse"],[5884,"opisthorchiasis"],[17138,"Opitz GBBB syndrome","Opitz G/BBB syndrome"],[495,"oppositional defiant disorder"],[9785,"Opsismodysplasia"],[15247,"Opsoclonus-myoclonus syndrome","Ataxo-opso-myoclonus syndrome","Dancing eye syndrome","Dancing eye-dancing feet syndrome","Kinsbourne syndrome","OMA syndrome","OMS","Opsoclonus-myoclonus-ataxia syndrome","POMA syndrome","Paraneoplastic opsoclonus-myoclonus","Paraneoplastic opsoclonus-myoclonus-ataxia syndrome"],[3608,"optic atrophy"],[34092,"Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome"],[14320,"Optic atrophy-intellectual disability syndrome","BBSOAS","Bosch-Boonstra-Schaaf optic atrophy syndrome"],[34981,"Optic disc pit","obsolete optic disk pit"],[1746,"optic disk drusen"],[5885,"optic neuritis"],[6879,"optic papillitis"],[16167,"Optic pathway glioma"],[743,"oral hairy leukoplakia"],[18166,"Oral submucous fibrosis","OSMF"],[2889,"orbital cancer"],[18885,"Orbital leiomyoma"],[100550,"orbital myositis"],[6882,"orchitis"],[40674,"orgasm disorder"],[15646,"Orgasm-induced epilepsy","orgasm-induced seizures"],[10703,"Ornithine transcarbamylase deficiency","OCT deficiency","OTC deficiency","Ornithine carbamoyltransferase deficiency"],[971064,"Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome","AMOTL1-related syndrome"],[10702,"Orofaciodigital syndrome type 1","orofaciodigital syndrome I"],[13035,"Orofaciodigital syndrome type 11","OFD11","Oral-facial-digital syndrome type 11","Oral-facial-digital syndrome, Gabrielli type","Orofaciodigital syndrome, Gabrielli type","orofaciodigital syndrome XI"],[14413,"Orofaciodigital syndrome type 14","Microcephaly-cerebral malformation-orofaciodigital syndrome","OFD14","Oral-facial-digital syndrome type 14"],[54770,"Orofaciodigital syndrome type 18","OFD18","Oral-facial-digital syndrome type 18","Oral-facial-digital syndrome with short stature and brachymesophalangy","orofaciodigital syndrome 18"],[9642,"Orofaciodigital syndrome type 2","Oral-facial-digital syndrome type 2","Mohr syndrome","OFD2","orofaciodigital syndrome type II"],[9794,"Orofaciodigital syndrome type 4","Baraitser-Burn syndrome","Mohr-Majewski syndrome","OFD4","Oral-facial-digital syndrome type 4","orofaciodigital syndrome IV"],[8267,"Orofaciodigital syndrome type 5","orofaciodigital syndrome V"],[10176,"Orofaciodigital syndrome type 6"],[10336,"Orofaciodigital syndrome type 8","OFD8","Oral-facial-digital syndrome type 8","Oral-facial-digital syndrome, Edwards type","Orofaciodigital syndrome, Edwards type","orofaciodigital syndrome VIII"],[9795,"Orofaciodigital syndrome type 9","OFD9","Oral-facial-digital syndrome type 9","Oral-facial-digital syndrome with retinal abnormalities","Orofaciodigital syndrome with retinal abnormalities","orofaciodigital syndrome IX"],[19771,"Oromandibular dystonia"],[4608,"oropharynx cancer"],[345,"Oropouche fever"],[5469,"orthostatic hypotension"],[4241,"Osgood-Schlatter disease","Aseptic necrosis of the tibial tubercle","Osteochondrosis of the tibial tubercle"],[8139,"OSLAM syndrome","Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome"],[19131,"Ossification anomalies-psychomotor developmental delay syndrome"],[5178,"osteoarthritis"],[18936,"Osteoblastoma"],[17178,"Osteochondritis dissecans","König disease"],[18381,"osteochondrosis"],[23188,"Osteochondrosis of the metatarsal bone","Avascular necrosis of the metatarsal bone","Freiberg disease","Freiberg infraction"],[16086,"Osteochondrosis of the tarsal bone","Aseptic necrosis of the tarsal bone","Avascular necrosis of the tarsal bone","Kohler disease","osteochondritis of tarsal/metatarsal bone"],[11215,"Osteocraniostenosis","Gracile bone dysplasia","Osteocraniosplenic syndrome"],[11806,"Osteofibrous dysplasia","OFD"],[19019,"Osteogenesis imperfecta","OI","Brittle bone disease","Glass bone disease","Lobstein disease"],[8146,"Osteogenesis imperfecta type 1","Non-deforming osteogenesis imperfecta","OI type 1","Van der Hoeve syndrome","Adair-Dighton syndrome","Mild osteogenesis imperfecta"],[8147,"Osteogenesis imperfecta type 2","Lethal osteogenesis imperfecta","OI type 2"],[9804,"Osteogenesis imperfecta type 3","OI type 3","Progressive deforming osteogenesis imperfecta","Severe osteogenesis imperfecta"],[8148,"Osteogenesis imperfecta type 4","OI type 4"],[12591,"Osteogenesis imperfecta type 5","OI type 5"],[17196,"Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome","Al Gazali-Nair syndrome"],[8150,"Osteoglosphonic dysplasia","Osteoglophonic dwarfism","osteoglophonic dysplasia"],[8155,"Osteomesopyknosis","Axial osteosclerosis","Osteomesopycnosis"],[5246,"osteomyelitis"],[5380,"Osteonecrosis","Bone necrosis"],[18378,"Osteonecrosis of the jaw"],[10310,"Osteopathia striata-cranial sclerosis syndrome","Hyperostosis generalisata with striations","Robinow-Unger syndrome","osteopathia striata with cranial sclerosis"],[17197,"Osteopathia striata-pigmentary dermopathy-white forelock syndrome","Whyte-Murphy syndrome"],[9814,"Osteopenia-intellectual disability-sparse hair syndrome","Kaler-Garrity-Stern syndrome"],[17198,"Osteopetrosis and related disorders","osteopetrosis"],[9818,"Osteopetrosis with renal tubular acidosis","Carbonic anhydrase 2 deficiency","Guibaud-Vainsel syndrome","Marble brain disease","Mixed RTA","Mixed renal tubular acidosis","Renal tubular acidosis type 3","autosomal recessive osteopetrosis 3"],[12859,"Osteopetrosis-hypogammaglobulinemia syndrome","Autosomal recessive osteoclast-poor osteopetrosis with hypogammaglobulinemia","Autosomal recessive osteopetrosis type 7","autosomal recessive osteopetrosis 7"],[5298,"osteoporosis"],[11020,"Osteoporosis-oculocutaneous hypopigmentation syndrome","Hernández-Fragoso syndrome","OOCHS"],[9820,"Osteoporosis-pseudoglioma syndrome","OPPG"],[33839,"Osteoradionecrosis of the mandible","MORN"],[2629,"Osteosarcoma","Osteogenic sarcoma","bone osteosarcoma"],[15800,"Osteosclerosis-developmental delay-craniosynostosis syndrome"],[12387,"Osteosclerosis-ichthyosis-premature ovarian failure syndrome","Sclerosing dysplasia of bone-ichthyosis-premature ovarian failure syndrome"],[9821,"Osteosclerotic bone dysplasia","Raine syndrome","lethal osteosclerotic bone dysplasia"],[14080,"Osteosclerotic metaphyseal dysplasia"],[4795,"otitis externa"],[8161,"Otodental syndrome","Globodontia","Otodental dysplasia"],[8163,"Otofaciocervical syndrome","Fara-Chlupackova syndrome","OFC syndrome"],[9822,"Otoonychoperoneal syndrome"],[10704,"Otopalatodigital syndrome type 1","OPD I syndrome","OPD syndrome 1","Taybi syndrome"],[10571,"Otopalatodigital syndrome type 2","OPD II syndrome","OPD syndrome 2"],[2172,"otosalpingitis"],[5349,"otosclerosis"],[2202,"outlet dysfunction constipation"],[8170,"ovarian cancer"],[1889,"ovarian dysfunction"],[20538,"Ovarian dysgerminoma","Dysgerminoma of ovary","Dysgerminomatous germ cell cancer of the ovary","malignant dysgerminomatous germ cell tumor of ovary"],[6337,"ovarian endometriosis"],[8168,"Ovarian fibroma"],[17802,"Ovarian fibrothecoma"],[11972,"Ovarian hyperstimulation syndrome","OHSS"],[20506,"Ovarioleukodystrophy","obsolete ovarioleukodystrophy"],[6624,"overactive bladder"],[19716,"Overgrowth syndrome"],[34676,"Overgrowth syndrome with 2q37 translocation"],[13357,"Overgrowth-macrocephaly-facial dysmorphism syndrome","chromosome 17q11.2 deletion syndrome, 1.4Mb","17q11 microdeletion syndrome","Del(17)(q11)","Monosomy 17q11","NF1 microdeletion syndrome","Neurofibromatosis type 1 microdeletion syndrome"],[12131,"Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome","metaphyseal undermodeling, spondylar dysplasia, and overgrowth"],[8493,"Overhydrated hereditary stomatocytosis"],[16099,"Overlap myositis","Adult-onset overlap myositis","Non-specific myositis"],[16663,"Overlapping connective tissue disease"],[8759,"Oxoglutaric aciduria","Alpha-ketoglutarate dehydrogenase deficiency","oxoglutaricaciduria"],[16620,"Pachydermoperiostosis","PDP","Touraine-Solente-Gole syndrome","primary hypertrophic osteoarthropathy"],[10840,"Pachygyria-intellectual disability-epilepsy syndrome","Kuzniecky syndrome"],[16471,"Pachyonychia congenita","PC"],[15873,"Paget disease of the nipple","Mammary Paget disease","Paget disease of the breast","Paget's disease of the nipple"],[8741,"PAGOD syndrome","Pulmonary hypoplasia-agonadism-dextrocardia-diaphragmatic hernia syndrome"],[7956,"Pai syndrome","Median cleft of the upper lip-corpus callosum lipoma-midline facial cutaneous polyps syndrome"],[859003,"PAICS deficiency","Phosphoribosylaminoimidazole carboxylase deficiency"],[850049,"Painful legs and moving toes syndrome","PLMT syndrome"],[17585,"Painful orbital and systemic neurofibromas-marfanoid habitus syndrome"],[14751,"Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome","Palatal anomalies-multiple diastemata-facial dysmorphism-developmental delay syndrome"],[1332,"palindromic rheumatism"],[7804,"Pallister-Hall syndrome","Hypothalamic hamartoblastoma syndrome"],[11146,"Pallister-Killian syndrome","Isochromosome 12p mosaicism","Isochromosome 12p syndrome","tetrasomy 12p"],[14272,"Palmoplantar keratoderma, Nagashima type","PPK, Nagashima type","Palmoplantar hyperkeratosis, Nagashima type"],[7852,"Palmoplantar keratoderma-deafness syndrome","PPK-deafness syndrome","Palmoplantar hyperkeratosis-deafness syndrome","Palmoplantar hyperkeratosis-hearing loss syndrome","Palmoplantar keratoderma-hearing loss syndrome"],[7856,"Palmoplantar keratoderma-esophageal carcinoma syndrome","Bennion-Patterson syndrome","Howell-Evans syndrome","Keratosis palmoplantaris-esophageal carcinoma syndrome","Palmoplantar hyperkeratosis-esophageal carcinoma syndrome","Tylosis-oesophageal carcinoma syndrome"],[7853,"Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome","Palmoplantar keratoderma-Charcot-Marie-Tooth syndrome"],[16353,"Palmoplantar keratoderma-spastic paralysis syndrome","Palmoplantar hyperkeratosis-spastic paralysis syndrome","Powell-Venencie-Gordon syndrome"],[12530,"Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome","Palmoplantar hyperkeratosis-XX sex reversal-predisposition to squamous cell carcinoma syndrome"],[6496,"palsy"],[2356,"pancreas disorder"],[34142,"Pancreatic agenesis-holoprosencephaly syndrome"],[17711,"Pancreatic colipase deficiency"],[10802,"Pancreatic hypoplasia-diabetes-congenital heart disease syndrome","PACHD","Pancreatic agenesis and congenital heart defects syndrome","Yorifuji-Okuno syndrome"],[12992,"Pancreatic insufficiency-anemia-hyperostosis syndrome"],[18525,"Pancreatic solid pseudopapillary neoplasm","Frantz tumor","SPN","Solid pseudopapillary carcinoma of pancreas","Solid pseudopapillary neoplasm of the pancreas"],[1079,"pancreatic steatorrhea"],[13700,"Pancreatic triacylglycerol lipase deficiency","Pancreatic triglyceride lipase deficiency"],[19035,"Pancreatoblastoma"],[1529,"pancytopenia"],[14317,"Pancytopenia-developmental delay syndrome","Trilineage bone marrow failure-developmental delay syndrome"],[19020,"PANDAS","Pediatric autoimmune disorders associated with Streptococcus infections","Pediatric autoimmune neuropsychiatric disorders associated with Streptococcus infections"],[19839,"Panhypophysitis","Infundibulo-panhypophysitis"],[5383,"panic disorder"],[44144,"panic disorder with agoraphobia"],[19969,"Panner disease","Aseptic necrosis of the capital humerus","Osteochondrosis of the capital humerus"],[19555,"Panniculitis-induced localized lipodystrophy","panniculitis and localized lipodystrophy"],[6884,"panophthalmitis"],[9319,"Pantothenate kinase-associated neurodegeneration","Hallervorden-Spatz syndrome","NBIA1","Neurodegeneration with brain iron accumulation type 1","PKAN"],[17255,"panuveitis"],[11462,"PAPA syndrome","FRA","Familial recurrent arthritis","Pyogenic arthritis-pyoderma gangrenosum-acne syndrome"],[958343,"PAPASH syndrome","Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"],[16735,"Papillary glioneuronal tumor","PGNT","Pseudopapillary ganglioglioneurocytoma","Pseudopapillary neurocytoma with glial differentiation"],[975753,"Papillary hemangioma","Papillary capillary haemangioma","Papillary capillary hemangioma","Papillary haemangioma"],[18714,"Papillary intralymphatic angioendothelioma","Dabska tumor","PILA","Primary intralymphatic angioendothelioma"],[17884,"Papillary renal cell carcinoma","Papillary renal cell adenocarcinoma"],[16724,"Papillary tumor of the pineal region","PTPR"],[9837,"Papilloma of choroid plexus","CPP","Choroid plexus papilloma"],[9490,"Papillon-Lefèvre syndrome","Keratosis palmoplantar-periodontopathy syndrome","PLS","Papillon-Lefevre disease"],[16443,"Papular elastorrhexis"],[19580,"Papular mucinosis of infancy","Cutaneous mucinosis of infancy"],[15536,"Papular xanthoma"],[18741,"Paracetamol poisoning","Acetaminophen poisoning"],[20397,"Parachute tricuspid valve"],[5894,"Paracoccidioidomycosis"],[5895,"Paragonimiasis"],[4568,"paralytic ileus"],[1603,"paralytic lagophthalmos"],[1143,"paralytic strabismus"],[15414,"Paramedian nasal cleft","Alar cleft","Alar rim cleft","Cleft nose","Isolated cleft of the ala nasi","Isolated coloboma of the nose","Tessier number 1 cleft"],[1350,"parametrium malignant neoplasm"],[8195,"Paramyotonia congenita of Von Eulenburg","Paramyotonia congenita"],[9838,"Parana hard skin syndrome","Hard skin syndrome, Parana type","Parana hard-skin syndrome"],[44877,"Paraneoplastic cerebellar degeneration","PCD","Paraneoplastic cerebellar ataxia","Rapidely progressive cerebellar syndrome","Subacute cerebellar degeneration"],[850104,"Paraneoplastic isolated brainstem encephalitis","Paraneoplastic isolated rhombencephalitis","Paraneoplastic isolated rhomboencephalitis"],[18974,"Paraneoplastic pemphigus"],[700416,"Paraneoplastic sensory ganglionopathy","Paraneoplastic sensory neuronopathy"],[17212,"Paraneoplastic uveitis"],[1163,"paranoid personality disorder"],[1484,"paranoid schizophrenia"],[16497,"Paraparetic variant of Guillain-Barré syndrome","Paraparetic variant of GBS","paraparetic variant of Guillain-Barre syndrome"],[6889,"paraphimosis"],[3757,"paraplegia"],[10662,"Paraplegia-intellectual disability-hyperkeratosis syndrome","Fitzsimmons-McLachlan-Gilbert syndrome"],[100644,"paraproteinemia-associated neuropathy"],[6592,"parapsoriasis"],[17862,"Paraquat poisoning"],[2875,"parasitic ectoparasitic infectious disease"],[18192,"Paratesticular adenocarcinoma","Adenocarcinoma of the paratestis"],[12004,"Parathyroid carcinoma","parathyroid gland carcinoma"],[18626,"Paratyphoid fever"],[10867,"PARC syndrome","Poikiloderma-alopecia-retrognathism-cleft palate syndrome"],[35777,"Parenteral nutrition-associated cholestasis","PNAC"],[17081,"Parietal encephalocele"],[8198,"Parietal foramina with clavicular hypoplasia","Parietal foramina with cleidocranial dysplasia"],[1952,"parietal lobe cancer"],[8557,"Paris-Trousseau thrombocytopenia"],[700325,"Parkes Weber syndrome"],[5180,"Parkinson disease"],[7104,"Parkinson-dementia complex of Guam","G-PDC","Guam disease","Guam parkinsonism-dementia complex","Lytico-Bodig disease","amyotrophic lateral sclerosis-parkinsonism-dementia complex"],[9830,"Parkinsonian-pyramidal syndrome","Pallidopyramidal syndrome"],[36193,"Parkinsonism with polyneuropathy"],[4700,"parotid gland cancer"],[1030011,"paroxysmal atrial fibrillation"],[19533,"Paroxysmal cold hemoglobinuria","Donath-Landsteiner hemolytic anemia","Donath-Landsteiner syndrome","PCH"],[10983,"Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity","DYT9","Episodic choreoathetosis/spasticity","dystonia 9"],[12805,"Paroxysmal exertion-induced dyskinesia","DYT18","Dystonia 18","PED","childhood onset GLUT1 deficiency syndrome 2"],[8179,"Paroxysmal extreme pain disorder","Familial rectal pain"],[15529,"Paroxysmal hemicrania"],[44202,"Paroxysmal kinesigenic dyskinesia","Familial PKD","Familial paroxysmal kinesigenic dyskinesia","Paroxysmal kinesigenic choreathetosis","episodic kinesigenic dyskinesia"],[100244,"Paroxysmal nocturnal hemoglobinuria","Marchiafava-Micheli disease","PNH"],[700088,"Paroxysmal non-kinesigenic dyskinesia","Paroxystic non-kinesigenic choreoathetosis","paroxysmal nonkinesigenic dyskinesia"],[10720,"Partial androgen insensitivity syndrome","PAIS","Partial androgen resistance syndrome"],[15275,"Partial atrioventricular septal defect","PAVC","Partial AVSD","Partial atrioventricular canal defect","partial atrioventricular canal"],[35555,"Partial atrioventricular septal defect with ventricular hypoplasia","Partial atrioventricular canal defect with ventricular hypoplasia","Partial atrioventricular septal defect with ventricular imbalance","Unbalanced partial atrioventricular canal","PAVC with ventricular hypoplasia","Partial AVSD with ventricular hypoplasia","obsolete partial atrioventricular septal defect with ventricular hypoplasia"],[35556,"Partial atrioventricular septal defect without ventricular hypoplasia","Balanced partial atrioventricular canal","PAVC without ventricular hypoplasia","Partial AVSD without ventricular hypoplasia","Partial atrioventricular canal defect without ventricular hypoplasia","Partial atrioventricular septal defect with balanced ventricles","obsolete partial atrioventricular septal defect without ventricular hypoplasia"],[18430,"Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome","KPNA7-related neurodevelopmental disorder"],[20361,"Partial cryptophthalmia"],[16786,"Partial hydatidiform mole","Incomplete hydatidiform mole","Incomplete molar pregnancy","Partial molar pregnancy"],[9832,"Partial pancreatic agenesis","Congenital pancreatic agenesis","Partial agenesis of the pancreas","pancreatic agenesis"],[15841,"Partial septate uterus","Subtotal septate uterus","Uterus subseptus"],[18716,"Partially involuting congenital hemangioma","Partially involuting congenital haemangioma"],[10654,"Partington syndrome","Partington-Mulley syndrome","X-linked intellectual disability-dystonia-dysarthria syndrome"],[17332,"PASH syndrome","Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome"],[958256,"PASS syndrome","Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome"],[5901,"pasteurellosis"],[1042,"patellar tendinitis"],[11454,"Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome","Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome"],[18551,"Patent urachus"],[16842,"Paternal 20q13.2q13.3 microdeletion syndrome","Paternal del(20)(q13.2q13.3)","Paternal monosomy 20q13.2q13.3"],[16650,"Paternal uniparental disomy of chromosome 1 syndrome","UPD(1)pat","paternal uniparental disomy of chromosome 1"],[20468,"Paternal uniparental disomy of chromosome 13 syndrome","UPD(13)pat","paternal uniparental disomy of chromosome 13"],[19924,"Paternal uniparental disomy of chromosome 20 syndrome","Paternal UPD(20)","UPD(20)pat","paternal uniparental disomy of chromosome 20"],[19925,"Paternal uniparental disomy of chromosome 21 syndrome","UPD(21)pat","paternal uniparental disomy of chromosome 21"],[19920,"Paternal uniparental disomy of chromosome 5 syndrome","UPD(5)pat","paternal uniparental disomy of chromosome 5"],[19921,"Paternal uniparental disomy of chromosome 6 syndrome","UPD(6)pat","paternal uniparental disomy of chromosome 6"],[19922,"Paternal uniparental disomy of chromosome 7 syndrome","UPD(7)pat","paternal uniparental disomy of chromosome 7"],[16852,"Paternal uniparental disomy of chromosome X syndrome","UPD(X)pat","paternal uniparental disomy of chromosome X"],[11662,"pathological gambling"],[8465,"Patterson-Stevenson-Fontaine syndrome","Patterson-Stevenson syndrome","Split foot deformity-mandibulofacial dysostosis syndrome"],[1508,"patulous eustachian tube"],[19641,"Pauci-immune glomerulonephritis"],[19988,"Pauci-immune glomerulonephritis with ANCA","Pauci-immune glomerulonephritis with antineutrophil cytoplasmic antibody"],[19989,"Pauci-immune glomerulonephritis without ANCA","Antineutrophil cytoplasmic antibody-negative pauci-immune glomerulonephritis","Pauci-immune glomerulonephritis without antineutrophil cytoplasmic antibody"],[60549,"PBX1-related congenital anomalies of kidney-urinary tract syndrome","PBX1-related syndromic CAKUT","congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay"],[14399,"PCNA-related progressive neurodegenerative photosensitivity syndrome","ataxia-telangiectasia-like disorder 2"],[14298,"PDE4D haploinsufficiency syndrome","chromosome 5q12 deletion syndrome"],[10797,"Pearson syndrome","PMPS","Pearson marrow-pancreas syndrome"],[8213,"pectus excavatum"],[10883,"Pectus excavatum-macrocephaly-dysplastic nails syndrome","Zori-Stalker-Williams syndrome"],[18585,"Pediatric arterial ischemic stroke","Childhood AIS","Childhood arterial ischemic stroke","Pediatric AIS"],[44624,"Pediatric collagenous gastritis","Childhood-onset collagenous gastritis"],[18055,"Pediatric hepatocellular carcinoma","Childhood-onset HCC","Childhood-onset hepatocellular carcinoma","Pediatric HCC"],[18784,"Pediatric multiple sclerosis"],[19725,"Pediatric systemic lupus erythematosus","SLE, pediatric onset"],[33925,"Pediatric-onset Graves disease","Pediatric-onset Basedow disease"],[1692,"pedophilia"],[14555,"Peeling skin syndrome type A","Generalized peeling skin syndrome type A","Non-inflammatory generalized peeling skin syndrome type A.","Non-inflammatory peeling skin syndrome type A","PSS type A"],[24548,"Peeling skin syndrome type B","Generalized peeling skin disease type B","Generalized peeling skin syndrome type B","Inflammatory peeling skin disease","Inflammatory peeling skin syndrome","PSS type B","PSS1","Peeling skin syndrome 1"],[14574,"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome","PLACK syndrome","peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome"],[9841,"PEHO syndrome","Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy"],[20495,"PEHO-like syndrome"],[4717,"peliosis hepatis"],[10714,"Pelizaeus-Merzbacher disease","Pelizaeus-Merzbacher spectrum disorder"],[17224,"Pelizaeus-Merzbacher disease in female carriers"],[17222,"Pelizaeus-Merzbacher disease, classic form","Classic PMD"],[17221,"Pelizaeus-Merzbacher disease, connatal form","Connatal PMD","Pelizaeus-Merzbacher disease type II","Severe PMD"],[17223,"Pelizaeus-Merzbacher disease, transitional form","Transitional PMD"],[17226,"Pelizaeus-Merzbacher-like disease","PMLD"],[9843,"Pelizaeus-Merzbacher-like disease due to AIMP1 mutation","leukodystrophy, hypomyelinating, 3"],[12125,"Pelizaeus-Merzbacher-like disease due to GJC2 mutation","PMLD1","leukodystrophy, hypomyelinating, 2"],[12824,"Pelizaeus-Merzbacher-like disease due to HSPD1 mutation","Mitochondrial HSP60 chaperonopathy","leukodystrophy, hypomyelinating, 4"],[19975,"Pellagra"],[15298,"Pellucid marginal degeneration"],[11235,"Pelvic dysplasia-arthrogryposis of lower limbs syndrome","Ray-Peterson-Scott syndrome"],[922,"pelvic inflammatory disease"],[1327,"pelvic muscle wasting"],[4869,"pelvic varices"],[8217,"Pelvis-shoulder dysplasia","Kosenow syndrome","Scapuloiliac dysostosis"],[9845,"Pelviscapular dysplasia","Cousin syndrome","Familial pelvis-scapular dysplasia"],[850301,"pemphigoid"],[6558,"Pemphigoid gestationis","Gestational pemphigoid"],[6594,"pemphigus"],[19323,"Pemphigus erythematosus","Seborrheic pemphigus","Senear-Usher syndrome"],[19324,"Pemphigus foliaceus"],[19322,"Pemphigus vegetans"],[8219,"Pemphigus vulgaris"],[10134,"Pendred syndrome","Goiter-deafness syndrome","Goiter-hearing loss syndrome"],[18846,"Penile agenesis","Aphallia","Penis agenesis"],[4671,"penis carcinoma in situ"],[17285,"Penoscrotal transposition"],[17785,"PENS syndrome","Papular epidermal nevi with skyline basal cell layers syndrome"],[10742,"Pentalogy of Cantrell","Cantrell deformity","Cantrell syndrome","Thoraco-abdominal syndrome"],[15228,"Pentasomy X syndrome","49,XXXXX syndrome","Penta-X","Poly-X","pentasomy X"],[9846,"Pentosuria","Essential pentosuria","Xylitol dehydrogenase deficiency"],[1038,"perforated corneal ulcer"],[1710,"perforation of bile duct"],[17301,"Pericardial and diaphragmatic defect"],[971124,"Perifoveal exudative vascular anomalous complex","PEVAC"],[3345,"Perihilar cholangiocarcinoma","Hilar CCA","Hilar cholangiocarcinoma","Klatskin tumor"],[100086,"perinatal disease"],[2196,"perinatal intestinal perforation"],[16605,"Perinatal lethal hypophosphatasia","Perinatal lethal Rathbun disease","Perinatal lethal phosphoethanolaminuria"],[1559,"perineocele"],[19000,"perineural cyst"],[7883,"Periodic fever-immunodeficiency-thrombocytopenia syndrome","PFITS","periodic fever, immunodeficiency, and thrombocytopenia syndrome"],[14472,"Periodic fever-infantile enterocolitis-autoinflammatory syndrome","NLRC4-related autoinflammatory syndrome with macrophage activation syndrome","NLRC4-related infantile enterocolitis-autoinflammatory syndrome","NLRC4-related macrophage activation syndrome","NLRC4-related MAS","NLRC4-related autoinflammatory syndrome with MAS"],[5905,"periodic limb movement disorder"],[16122,"Periodic paralysis"],[18343,"Periodic paralysis with later-onset distal motor neuropathy"],[18344,"Periodic paralysis with transient compartment-like syndrome","obsolete periodic paralysis with transient compartment-like syndrome"],[7527,"Periodontal Ehlers-Danlos syndrome","EDS VIII","Ehlers-Danlos syndrome type 8","Ehlers-Danlos syndrome, periodontitis type","Periodontal EDS","pEDS"],[5076,"periodontitis"],[15345,"Perioral myoclonia with absences","POMA"],[34979,"Peripapillary staphyloma","obsolete peripapillary staphyloma"],[18920,"Peripartum cardiomyopathy","Postpartum cardiomyopathy"],[12198,"Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease","Neurologic Waardenburg-Shah syndrome","PCWH","WS4 plus","PCWH syndrome"],[9648,"Peripheral motor neuropathy-dysautonomia syndrome","Lisker-Garcia-Ramos syndrome"],[18271,"Peripheral primitive neuroectodermal tumor","PPNET","Peripheral PNET","Peripheral neuroepithelioma"],[20420,"Peripheral pulmonary stenosis","Branch pulmonary artery stenosis","Pulmonary branch stenosis"],[1451,"peripheral retinal degeneration"],[4964,"peripheral T-cell lymphoma, not otherwise specified"],[6363,"Peritoneal inclusion cyst","Benign multicystic peritoneal mesothelioma","Multicystic mesothelioma","Multilocular peritoneal inclusion cyst","Peritoneal cyctic mesothelioma","peritoneal multicystic mesothelioma"],[6362,"peritoneal mesothelioma"],[5906,"peritonsillar abscess"],[6359,"Perivascular epithelioid cell neoplasm","PEComa","Perivascular epithelioid tumour","neoplasm with perivascular epithelioid cell differentiation"],[20341,"Periventricular nodular heterotopia","PVNH"],[9965,"Perlman syndrome","Nephroblastomatosis-fetal ascites-macrosomia-Wilms tumor syndrome"],[12192,"Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome","Pancreatic and cerebellar agenesis"],[8228,"pernicious anemia"],[9919,"Peroxisomal acyl-CoA oxidase deficiency","Pseudo-NALD","Pseudo-neonatal adrenoleukodystrophy","Pseudoadrenoleukodystrophy"],[17312,"Perrault syndrome","XX gonadal dysgenesis-deafness syndrome","XX gonadal dysgenesis-hearing loss syndrome"],[8201,"Perry syndrome","Parkinsonism with alveolar hypoventilation and mental depression"],[1030009,"persistent atrial fibrillation"],[20449,"Persistent eustachian valve"],[22430,"persistent fetal circulation syndrome"],[20414,"Persistent fifth aortic arch"],[19631,"Persistent hyperplastic primary vitreous","Congenital retinal detachment","NCRNA disease","Non-syndromic congenital retinal non-attachment","PFVS","PHPV","Persistent fetal vasculature syndrome"],[18362,"Persistent idiopathic facial pain","AFP","Atypical facial pain","PIFP"],[20440,"Persistent left superior vena cava connecting through coronary sinus to left-sided atrium","Persistent left SVC connecting through coronary sinus to left-sided atrium","persistent left superior vena cava connecting to the left-sided atrium"],[20442,"Persistent left superior vena cava connecting to the roof of left-sided atrium","Persistent left SVC connecting to left-sided atrium","Persistent left SVC connecting to the roof of left-sided atrium","Persistent left superior vena cava connecting to left-sided atrium","left superior vena cava persisting to left-sided atrium"],[9857,"Persistent Müllerian duct syndrome","PMDS","Persistent Müllerian derivatives","persistent Mullerian duct syndrome"],[19973,"Persistent placoid maculopathy"],[11672,"Persistent polyclonal B-cell lymphocytosis","PPBL","Persistent polyclonal B-cell lymphocytosis with binucleated lymphocytes"],[11414,"Peters anomaly"],[9856,"Peters plus syndrome"],[1109,"petrositis"],[8280,"Peutz-Jeghers syndrome","Hamartomatous intestinal polyposis","PJS"],[8231,"Peyronie disease"],[18540,"PFAPA syndrome","Marshall syndrome with periodic fever","Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome"],[7043,"Pfeiffer syndrome","ACS5","Acrocephalosyndactyly type 5"],[19659,"Pfeiffer syndrome type 1","Classic Pfeiffer syndrome"],[19660,"Pfeiffer syndrome type 2"],[19661,"Pfeiffer syndrome type 3"],[9858,"Pfeiffer-Palm-Teller syndrome"],[13968,"PGM1-CDG","CDG syndrome type It","CDG-It","CDG1T","Congenital disorder of glycosylation type 1t","Congenital disorder of glycosylation type It","PGM1-related congenital disorder of glycosylation","Phosphoglucomutase-1 deficiency","PGM1-congenital disorder of glycosylation"],[14353,"PGM3-CDG","CID due to PGM3 deficiency","Combined immunodeficiency due to PGM3 deficiency","PGM3-related congenital disorder of glycosylation","immunodeficiency 23"],[11676,"PHACE syndrome","PHACES syndrome","Pascual-Castroviejo syndrome type 2"],[16207,"Phacoanaphylactic uveitis","Endophthalmitis phacoanaphylactica","Lens-induced endophthalmitis","Lens-induced iridocyclitis","Lens-induced uveitis","Phacoallergic endophthalmitis","Phacoantigenic endophthalmitis","Phako-anaphylactic endophthalmitis"],[19325,"Phakomatosis cesioflammea","Phakomatosis pigmentovascularis type 2"],[19326,"Phakomatosis cesiomarmorata","Phakomatosis pigmentovascularis type 5"],[17317,"Phakomatosis pigmentokeratotica"],[17318,"Phakomatosis pigmentovascularis"],[19327,"Phakomatosis spilorosea","Phakomatosis pigmentovascularis type 3"],[18128,"Phalangeal microgeodic syndrome","Phalangeal osteolysis"],[16496,"Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome","PCB variant of GBS","PCB variant of Guillain-Barré syndrome","Pharyngeal-cervical-brachial weakness","Pharyngo-cervico-brachial variant of GBS","Pharyngo-cervico-brachial variant of Guillain-Barré syndrome","pharyngeal-cervical-brachial variant of Guillain-Barre syndrome"],[372,"pharynx carcinoma in situ"],[9859,"PHAVER syndrome","Powell-Chandra-Saal syndrome"],[11652,"Phelan-McDermid syndrome"],[971068,"Phelan-McDermid syndrome due to 22q13.3 deletion","22q13.3 deletion","Chromosome 22q13.3 deletion syndrome"],[971069,"Phelan-McDermid syndrome due to SHANK3 mutation"],[16015,"Phenobarbital embryopathy"],[9861,"Phenylketonuria"],[6904,"phimosis"],[35133,"PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome","Chung-Jansen syndrome","DIDOD"],[5913,"phlebotomus fever"],[1611,"phlegmonous dacryocystitis"],[1317,"phlyctenulosis"],[10164,"Phocomelia, Schinzel type","Al Awadi-Raas-Rothschild syndrome","Aplasia/hypoplasia of limbs and pelvis","Congenital absence of ulna and fibula","Severe limb deficit"],[17320,"Phosphoenolpyruvate carboxykinase deficiency"],[10395,"Phosphoribosylpyrophosphate synthetase superactivity","PRPP synthetase superactivity","PRPS1 superactivity"],[2319,"phosphorus metabolism disease"],[12596,"Phosphoserine aminotransferase deficiency, infantile/juvenile form","PSAT deficiency, infantile/juvenile form","PSAT deficiency"],[1760,"photokeratitis"],[15643,"Photosensitive occipital lobe epilepsy","POLE","photosensitive epilepsy"],[15871,"Phyllodes tumor of the breast","benign breast phyllodes tumor"],[21102,"Phyllodes tumor of the prostate","Cystic epithelial-stromal tumors of the prostate","Cystosarcoma phyllodes of the prostate","Phyllodes type of atypical prostatic hyperplasia","prostate phyllodes tumor"],[8243,"Pick disease"],[8245,"Piebald trait-neurologic defects syndrome","Telfer-Sugar-Jaeger syndrome"],[8244,"Piebaldism"],[11213,"Pierpont syndrome","Plantar lipomatosis-facial dysmorphism-developmental delay syndrome","Plantar lipomatosis-unusual facies-developmental delay syndrome"],[10710,"Pierre Robin syndrome-faciodigital anomaly syndrome","Chitayat-Meunier-Hodgkinson syndrome","Pierre Robin sequence-faciodigital anomaly syndrome"],[14507,"Pierre-Robin sequence-Manzke dysostosis-clinodactyly of the index finger syndrome","Pierre-Robin sequence-hyperphalangy and clinodactyly of the index finger syndrome","Catel-Manzke syndrome"],[12184,"Pierson syndrome"],[14797,"PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis","Generalized lymphatic dysplasia of Fotiou","PIEZO1-related LRHF/GLD","PIEZO1-related generalized lymphatic dysplasia with systemic involvement","PIEZO1-related lymphatic-related hydrops fetalis","lymphatic malformation 6"],[1060278,"pigmentary glaucoma"],[18657,"Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome"],[8246,"Pigmented paravenous retinochoroidal atrophy","PPRCA"],[19120,"Pili bifurcati"],[19330,"Pili gemini","Pili multigemini"],[9870,"Pili torti","Twisted hair"],[9871,"Pili torti-developmental delay-neurological abnormalities syndrome"],[17321,"Pili torti-onychodysplasia syndrome"],[16691,"Pilocytic astrocytoma"],[9873,"Pilodental dysplasia-refractive errors syndrome","Euhidrotic ectodermal dysplasia","Kopysc-Barczyk-Krol syndrome"],[3414,"Pilomatrix carcinoma","Calcified epithelial carcinoma of Malherbe","Calcifying epitheliocarcinoma","Malignant pilomatricoma","Trichomatrical carcinoma","skin pilomatrix carcinoma"],[7564,"Pilomatrixoma","Epithelioma calcificans of Malherbe","Pilomatricoma"],[16692,"Pilomyxoid astrocytoma"],[3249,"pineal gland cancer"],[6369,"Pineal parenchymal tumor of intermediate differentiation"],[16722,"Pineoblastoma"],[16723,"Pineocytoma"],[1179,"pinguecula"],[15477,"Pinnae fistula or cyst"],[979,"pinta disease"],[12589,"Pitt-Hopkins syndrome"],[6372,"Pituicytoma"],[6373,"Pituitary adenoma","pituitary gland adenoma"],[6908,"Pituitary apoplexy","Pituitary tumor apoplexy"],[2109,"pituitary cancer"],[17582,"Pituitary carcinoma","pituitary adenocarcinoma"],[15127,"Pituitary deficiency"],[19617,"Pituitary deficiency due to empty sella turcica syndrome","Hypopituitarism due to empty sella turcica syndrome"],[19614,"Pituitary deficiency due to Rathke cleft cysts","pituitary deficiency due to Rathke's pouch cysts"],[19615,"Pituitary dermoid and epidermoid cysts"],[20479,"Pituitary gigantism","Hypophyseal gigantism","Infantile and juvenile forms of acromegaly"],[19828,"Pituitary stalk interruption syndrome","Ectopic neurohypophysis","PSIS"],[24349,"pityriasis alba"],[6601,"pityriasis rosea"],[8251,"Pityriasis rubra pilaris","familial pityriasis rubra pilaris"],[100017,"pityriasis rubra pilaris"],[5915,"pityriasis versicolor"],[13060,"PLA2G6-related neurodegeneration, adult-onset","Dystonia-parkinsonism, Paisan-Ruiz type","PARK14","PLA2G6-related dystonia-parkinsonism","PLA2G6-associated neurodegeneration, adult-onset","Adult-onset dystonia-parkinsonism","Adult PLAN","Adult phospholipase A2-associated neurodegeneration","autosomal recessive Parkinson disease 14"],[24457,"PLA2G6-related neurodegeneration, infantile-onset","INAD","Infantile neuroaxonal dystrophy","Infantile PLAN","Infantile phospholipase A2-associated neurodegeneration","Seitelberger disease","PLA2G6-associated neurodegeneration, infantile-onset","neurodegeneration with brain iron accumulation 2A"],[60502,"PLAA-associated neurodevelopmental disorder","PLAAND","neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies"],[5916,"Placenta accreta spectrum disorder","AIP","Abnormally invasive placenta","PAI","PAS","Placenta accreta spectrum","placenta accreta"],[2178,"placenta cancer"],[5918,"placenta praevia"],[4846,"placental abruption"],[5919,"Placental insufficiency","Uteroplacental vascular insufficiency"],[20552,"Placental site trophoblastic tumor","PSST"],[19095,"Plague","Y. pestis infection","Yersinia pestis infection"],[1541,"plantar nerve lesion"],[1795,"plantar wart"],[15555,"Plaque-form urticaria pigmentosa"],[18689,"Plasma cell leukemia","PCL"],[17347,"Plasmablastic lymphoma","PBL"],[5615,"Plasmacytoma","Solitary plasmacytoma"],[5920,"Plasmodium falciparum malaria"],[1943,"Plasmodium malariae malaria"],[1601,"Plasmodium ovale malaria"],[5921,"Plasmodium vivax malaria"],[18597,"Plastic bronchitis","Croupous bronchitis","Fibrinous bronchitis","Pseudo-membranous bronchitis"],[7895,"Platyspondylic dysplasia, Torrance type","PLSD-T","Platyspondylic dysplasia, Torrance-Luton type","Platyspondylic lethal skeletal dysplasia, Torrance type"],[13766,"PLCG2-associated antibody deficiency and immune dysregulation","FACU","Familial atypical cold urticaria","Familial cold urticaria with common variable immunodeficiency","PLAID","familial cold autoinflammatory syndrome 3"],[7555,"PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement","PLEC-related intermediate EBS without extracutaneous involvement","epidermolysis bullosa simplex 5A, Ogna type"],[13390,"Plectin-related limb-girdle muscular dystrophy R17","Autosomal recessive limb-girdle muscular dystrophy type 2Q","LGMD type 2Q","LGMD2Q","Limb-girdle muscular dystrophy type 2Q","Plectin-related LGMD R17"],[20562,"Pleomorphic liposarcoma","PLS"],[17386,"Pleomorphic rhabdomyosarcoma"],[16690,"Pleomorphic xanthoastrocytoma","PXA"],[6294,"pleural cancer"],[18667,"Pleural empyema"],[6292,"Pleural mesothelioma","malignant mesothelioma"],[3308,"pleural mesothelioma"],[5922,"pleural tuberculosis"],[986,"pleurisy"],[20456,"Pleuro-pericardial cyst"],[11014,"Pleuropulmonary blastoma"],[20555,"Pleuropulmonary blastoma type 1"],[20556,"Pleuropulmonary blastoma type 2"],[20557,"Pleuropulmonary blastoma type 3"],[35220,"PLG-related hereditary angioedema with normal C1Inh","PLG-related HAE with normal C1 inhibitor"],[13478,"PLIN1-related familial partial lipodystrophy","FPLD4","PLIN1-related FPLD"],[18895,"Plummer-Vinson syndrome","Kelly-Paterson syndrome","Sideropenic dysphagia"],[8907,"PMM2-CDG","CDG syndrome type Ia","CDG-Ia","CDG1A","Carbohydrate deficient glycoprotein syndrome type Ia","Congenital disorder of glycosylation type 1a","Congenital disorder of glycosylation type Ia","Phosphomannomutase 2 deficiency","PMM2-congenital disorder of glycosylation"],[33135,"PMP2-related Charcot-Marie-Tooth disease type 1","PMP2-related CMT1","PMP2-related Charcot-Marie-Tooth neuropathy type 1","PMP2-related hereditary motor and sensory neuropathy type 1","Charcot-Marie-Tooth disease, demyelinating, type 1G"],[14723,"PMP22-RAI1 contiguous gene duplication syndrome","17p11.2p12 microduplication syndrome","Dup(17)(p11.2p12)","Trisomy 17p11.2-p12","Trisomy 17p11.2p12","Yuan-Harel-Lupski syndrome"],[6913,"Pneumococcal meningitis"],[19121,"Pneumocystosis"],[5249,"pneumonia"],[25598,"pneumonia caused by chlamydia"],[37398,"Pneumonia caused by Pseudomonas aeruginosa infection"],[1024,"pneumonic plague"],[2212,"pneumonic tularemia"],[17364,"POEMS syndrome","Crow-Fukase syndrome","Osteosclerotic myeloma","PEP syndrome","Polyneuropathy-endocrinopathy-plasma cell dyscrasia syndrome","Takatsuki syndrome"],[14977,"POGLUT1-related limb-girdle muscular dystrophy R21","Autosomal recessive limb-girdle muscular dystrophy type 2Z","LGMD type 2Z","LGMD2Z","Limb-girdle muscular dystrophy type 2Z","POGLUT1-related LGMD R21","autosomal recessive limb-girdle muscular dystrophy type 2R1"],[11405,"Poikiloderma with neutropenia","Poikiloderma with neutropenia, Clericuzio type"],[32889,"Poirier-Bienvenu neurodevelopmental syndrome"],[8262,"Poland syndrome","Poland anomaly","Poland sequence"],[17373,"Poliomyelitis"],[19170,"Polyarteritis nodosa"],[2272,"polyclonal hypergammaglobulinemia"],[18678,"Polyclonal hyperviscosity syndrome"],[8487,"polycystic ovary syndrome"],[1238,"polycythemia neonatorum"],[9891,"Polycythemia vera","Acquired primary erythrocytosis","Osler-Vaquez disease","PV","Polycythemia rubra vera","Vaquez disease","acquired polycythemia vera"],[21003,"polydactyly"],[8269,"Polydactyly of a biphalangeal thumb and/or hallux","PPD1","Preaxial polydactyly type 1","polydactyly of a biphalangeal thumb"],[8270,"Polydactyly of a triphalangeal thumb","PPD2","Preaxial polydactyly type 2"],[8271,"Polydactyly of an index finger","PPD3","Preaxial polydactyly type 3"],[8268,"Polydactyly-myopia syndrome","Czeizel-Brooser syndrome"],[15863,"Polyembryoma"],[14497,"Polyendocrine-polyneuropathy syndrome"],[14389,"Polyglucosan body myopathy type 1","PGBM1","polyglucosan body myopathy 1 with or without immunodeficiency"],[14526,"Polyglucosan body myopathy type 2"],[4585,"polyhydramnios"],[12611,"Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome","PMSE syndrome","polyhydramnios, megalencephaly, and symptomatic epilepsy"],[18653,"Polymerase proofreading-related polyposis","PPAP","Polymerase proofreading-related adenomatous polyposis"],[12399,"Polymicrogyria due to TUBB2B mutation","complex cortical dysplasia with other brain malformations 7"],[13172,"Polymicrogyria with optic nerve hypoplasia"],[41182,"polymorphic light eruption"],[19735,"polymyalgia rheumatica"],[19127,"Polymyositis"],[16176,"Polyneuropathy associated with IgM monoclonal gammopathy","axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy"],[12984,"Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome","PHARC syndrome","Peripheral neuropathy, Fiskerstrand type","Polyneuropathy-deafness-ataxia-retinitis pigmentosa-cataract syndrome"],[17379,"Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome","Lundberg syndrome"],[8274,"Polyostotic fibrous dysplasia"],[5079,"polyp"],[21400,"polyp of colon"],[4223,"polyp of middle ear"],[21398,"polyp of rectum"],[21394,"polyp of vagina"],[21396,"polyp of vulva"],[19934,"Polyploidy syndrome","polyploidy"],[15388,"Polyrrhinia","Double nose","Polyrhinia"],[8272,"Polysyndactyly","PPD4","Preaxial polydactyly type 4","polysyndactyly 4"],[9900,"Polysyndactyly-cardiac malformation syndrome","Bonneau syndrome"],[13161,"POMGNT1-related limb-girdle muscular dystrophy R15","Autosomal recessive limb-girdle muscular dystrophy type 2O","LGMD type 2O","LGMD2O","Limb-girdle muscular dystrophy type 2O","POMGNT1-related LGMD R15"],[35432,"POMGNT2-related limb-girdle muscular dystrophy R24","POMGNT2-related LGMD R24","POMGNT2-related muscular dystrophy","LGMD type R24","Limb-girdle muscular dystrophy type R24"],[12248,"POMT1-related limb-girdle muscular dystrophy R11","Autosomal recessive limb-girdle muscular dystrophy type 2K","LGMD type 2K","LGMD2K","Limb-girdle muscular dystrophy type 2K","Limb-girdle muscular dystrophy-intellectual disability syndrome","POMT1-related LGMD R11"],[13162,"POMT2-related limb-girdle muscular dystrophy R14","Autosomal recessive limb-girdle muscular dystrophy type 2N","LGMD type 2N","LGMD2N","Limb-girdle muscular dystrophy type 2N","POMT2-related LGMD R14"],[20487,"Pontiac fever","Non-pneumonic Legionnaires' disease"],[32814,"Pontine autosomal dominant microangiopathy with leukoencephalopathy","PADMAL","microangiopathy and leukoencephalopathy, pontine, autosomal dominant"],[13858,"Pontine tegmental cap dysplasia","PTCD"],[16396,"Pontocerebellar hypoplasia type 1","Norman disease","PCH1"],[14349,"Pontocerebellar hypoplasia type 10","CLP1-related pontocerebellar hypoplasia","PCH10"],[54669,"Pontocerebellar hypoplasia type 11","PCH11","Pontocerebellar hypoplasia due to TBC1D23","pontocerebellar hypoplasia, type 11"],[32643,"Pontocerebellar hypoplasia type 12","COASY-related pontocerebellar hypoplasia","PCH12","pontocerebellar hypoplasia, type 12"],[32831,"Pontocerebellar hypoplasia type 13","PCH13","pontocerebellar hypoplasia, type 13"],[30258,"Pontocerebellar hypoplasia type 14","PCH14","pontocerebellar hypoplasia, type 14"],[16759,"Pontocerebellar hypoplasia type 2","PCH2"],[11948,"Pontocerebellar hypoplasia type 3","Cerebellar atrophy with progressive microcephaly","PCH3"],[9166,"Pontocerebellar hypoplasia type 4","Fatal infantile encephalopathy with olivopontocerebellar hypoplasia","Olivopontocerebellar hypoplasia","PCH4"],[12683,"Pontocerebellar hypoplasia type 6","Fatal infantile encephalopathy with mitochondrial respiratory chain defects","PCH6"],[13993,"Pontocerebellar hypoplasia type 7","PCH7","Pontocerebellar hypoplasia-46,XY disorder of sex development syndrome"],[13990,"Pontocerebellar hypoplasia type 8","PCH8","Pontocerebellar hypoplasia due to CHMP1A mutation"],[14351,"Pontocerebellar hypoplasia type 9","PCH9"],[16978,"Poorly differentiated thymic neuroendocrine carcinoma"],[17410,"Porencephaly"],[11036,"Porencephaly-cerebellar hypoplasia-internal malformations syndrome","Bonnemann-Meinecke syndrome"],[13394,"Porencephaly-microcephaly-bilateral congenital cataract syndrome"],[19141,"Porokeratosis of Mibelli"],[8291,"Porokeratosis plantaris palmaris et disseminata","Palmar, plantar and disseminated porokeratosis"],[15635,"Porokeratotic eccrine ostial and dermal duct nevus","Comedo nevus of the palm","Porokeratotic eccrine nevus"],[19142,"Porphyria","inherited porphyria"],[15104,"Porphyria cutanea tarda","PCT"],[13000,"Porphyria due to ALA dehydratase deficiency","ALAD porphyria","Porphyria due to ALAD deficiency","Porphyria due to delta-aminolevulinate dehydratase deficiency","Porphyria of Doss"],[100367,"Port-wine nevi-mega cisterna magna-hydrocephalus syndrome","Nova syndrome"],[5080,"portal hypertension"],[1339,"portal vein thrombosis"],[35357,"Portosinusoidal vascular disease","PSVD"],[975897,"Post 5-alpha-reductase inhibitors treatment syndrome"],[21669,"post-infectious disorder"],[975898,"Post-selective serotonin reuptake inhibitor sexual dysfunction","PSSD","Post-SSRI sexual dysfunction"],[5928,"post-thrombotic syndrome"],[19088,"Post-transplant lymphoproliferative disease","PTLD"],[19845,"Post-traumatic pituitary deficiency","iatrogenic or traumatic pituitary deficiency"],[5146,"post-traumatic stress disorder"],[9903,"Postaxial acrofacial dysostosis","Acrofacial dysostosis, Genee-Wiedemann type","Mandibulofacial dysostosis with postaxial limb anomalies","Miller syndrome","POADS","Postaxial acrodysostosis"],[19673,"Postaxial polydactyly type A"],[19674,"Postaxial polydactyly type B"],[14369,"Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome","Culler-Jones syndrome"],[9895,"Postaxial polydactyly-dental and vertebral anomalies syndrome"],[8298,"Postaxial tetramelic oligodactyly"],[6916,"postcholecystectomy syndrome"],[1945,"Postencephalitic parkinsonism","postencephalitic Parkinson disease"],[13027,"Posterior amorphous corneal dystrophy","PACD","Posterior amorphous stromal dystrophy"],[12177,"Posterior column ataxia-retinitis pigmentosa syndrome","Autosomal recessive posterior column ataxia and retinitis pigmentosa","PCARP"],[1717,"posterior corneal pigmentation"],[18899,"Posterior cortical atrophy","Benson syndrome","Biparietal Alzheimer disease","PCA"],[1906,"posterior dislocation of lens"],[8650,"Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome","Faulk-Epstein-Jones syndrome"],[44033,"posterior leukoencephalopathy syndrome"],[2972,"posterior mediastinum cancer"],[20364,"Posterior polymorphous corneal dystrophy"],[1774,"posterior scleritis"],[19640,"Posterior urethral valve","PUV"],[32677,"Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome","lissencephaly 9 with complex brainstem malformation"],[4566,"postgastrectomy syndrome"],[850107,"Postinfectious cerebellitis","ACA","APCA","Acute cerebellar ataxia","Acute postinfectious cerebellar ataxia","PIC","Para-infectious cerebellitis"],[18837,"Postinfectious vasculitis"],[1410,"postmenopausal atrophic vaginitis"],[14567,"Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome","glutamate pyruvate transaminase 2 deficiency"],[17213,"Postorgasmic illness syndrome","POIS"],[5929,"postpartum depression"],[18623,"Postpartum psychosis","Puerperal psychosis"],[17416,"Postpoliomyelitis syndrome","Postpolio syndrome","Postpoliomyelitic syndrome"],[20344,"Postsynaptic congenital myasthenic syndrome"],[15595,"Posttransplant acute limbic encephalitis","PALE"],[11479,"Postural orthostatic tachycardia syndrome due to NET deficiency","Familial orthostatic tachycardia due to norepinephrine transporter deficiency","Orthostatic intolerance due to NET deficiency","POTS due to NET deficiency"],[3019,"potassium deficiency disease"],[11022,"Potocki-Shaffer syndrome","11p11.2 deletion","Proximal 11p deletion syndrome"],[1558,"Potter sequence"],[5312,"Pouchitis"],[979300,"PPARG-associated congenital generalized lipodystrophy","Berardinelli-Seip syndrome associated to PPARG"],[11448,"PPARG-related familial partial lipodystrophy","FPLD3","Familial partial lipodystrophy type 3","PPARG-related FPLD"],[19957,"PPoma","Pancreatic polypeptidoma"],[8300,"Prader-Willi syndrome","Prader-Labhart-Willi syndrome"],[15786,"Prader-Willi syndrome due to imprinting mutation"],[20298,"Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15","UPD(15)mat"],[20301,"Prader-Willi syndrome due to paternal 15q11q13 deletion"],[15783,"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1"],[15784,"Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2"],[15785,"Prader-Willi syndrome due to translocation"],[14717,"PRDM8-related progressive myoclonus epilepsy","Early-onset Lafora body disease"],[17392,"Pre-Descemet corneal dystrophy","PDCD"],[859005,"Preaxial digit brachydactyly-webbed fingers","Preaxial brachydactyly, PAX3 type"],[17377,"Preaxial polydactyly-colobomata-intellectual disability syndrome","Pfeiffer-Mayer syndrome"],[88,"precocious puberty"],[20511,"Precursor B-cell acute lymphoblastic leukemia","B-ALL","Precursor B-cell acute lymphoblastic leukemia/lymphoma","Precursor B-cell acute lymphocytic leukemia","Precursor B-cell acute lymphocytic leukemia/lymphoma"],[20512,"Precursor T-cell acute lymphoblastic leukemia","Precursor T-cell acute lymphoblastic leukemia/lymphoma","Precursor T-cell acute lymphocytic leukemia","Precursor T-cell acute lymphocytic leukemia/lymphoma","T-ALL"],[8905,"Predisposition to invasive fungal disease due to CARD9 deficiency","Invasive candidiasis-deep dermatophytosis syndrome"],[14597,"Predisposition to severe viral infection due to IRF7 deficiency","immunodeficiency 39"],[5081,"Preeclampsia"],[41526,"pregnancy disorder with abortive outcome"],[19823,"Premature closure of the arterial duct","Premature closure of the patent ductus arteriosus"],[1780,"premature ejaculation"],[1119,"premature menopause"],[700424,"Prenatal benign hypophosphatasia","Prenatal benign Rathbun disease","Prenatal benign phosphoethanolaminuria"],[209,"Prenatal-onset spinal muscular atrophy with congenital bone fractures","SMABF"],[33926,"Prepubertal anorexia nervosa"],[1653,"prepuce cancer"],[43765,"presbycusis"],[1330,"presbyopia"],[19556,"Pressure-induced localized lipoatrophy","Lipoatrophia semicircularis","Semicircular lipoatrophy"],[700466,"Presynaptic congenital myasthenic syndrome"],[20338,"Primary acquired pure red cell aplasia","Primary acquired PRCA","adult pure red cell aplasia"],[19493,"Primary adult heart tumor","Adult cardiac tumor","Adult heart tumor"],[1422,"primary aldosteronism"],[290,"primary amebic meningoencephalitis"],[16444,"Primary anetoderma","Primary macular atrophy"],[15374,"Primary angiitis of the central nervous system","Isolated angiitis of the central nervous system","PACNS","PCNSV","Primary central nervous system vasculitis","Primary vasculitis of the central nervous system"],[1868,"primary angle-closure glaucoma"],[33862,"Primary autoimmune enteropathy"],[7188,"Primary basilar invagination","Bull-Nixon syndrome"],[5388,"Primary biliary cholangitis","Hanot syndrome","PBC","Primary biliary cirrhosis"],[34189,"Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome","Overlap syndromes of autoimmune liver diseases","PBC/PSC and AIH overlap syndrome"],[17814,"Primary bone lymphoma"],[12858,"Primary CD59 deficiency"],[2571,"Primary central nervous system lymphoma","PCNSL","Primary CNS lymphoma","Primary brain lymphoma"],[958356,"Primary central precocious puberty in male","Primary CPP in boy","Primary CPP in male","Primary central precocious puberty in boy"],[24356,"primary central sleep apnea syndrome"],[16575,"Primary ciliary dyskinesia"],[10330,"Primary ciliary dyskinesia-retinitis pigmentosa syndrome","obsolete primary ciliary dyskinesia-retinitis pigmentosa syndrome"],[18793,"Primary condylar hyperplasia","Type 1 condylar hyperplasia"],[15811,"Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma","Berti lymphoma","Primary cutaneous epidermotropic cytotoxic CD8+ T-cell lymphoma"],[17598,"Primary cutaneous anaplastic large cell lymphoma","Primary C-ALCL","Regressive atypical histiocytosis"],[18897,"Primary cutaneous CD30+ T-cell lymphoproliferative disease","Primary cutaneous Ki-1+ T-cell lymphoproliferative disease"],[15810,"Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma"],[6383,"Primary cutaneous diffuse large B-cell lymphoma, leg type","PCDLBCL,LT"],[15814,"Primary cutaneous follicle center lymphoma","PCFCL"],[15812,"Primary cutaneous gamma/delta-positive T-cell lymphoma"],[15813,"Primary cutaneous marginal zone B-cell lymphoma","PCMZL"],[19476,"Primary cutaneous peripheral T-cell lymphoma not otherwise specified","Primary cutaneous peripheral T-cell lymphoma NOS","Primary cutaneous unspecified peripheral T-cell lymphoma"],[18679,"Primary cutaneous plasmacytosis"],[34846,"Primary desmosis coli","Aplastic desmosis coli"],[11886,"Primary dystonia, DYT13 type","DYT13","Primary dystonia with mixed phenotype","Primary torsion dystonia with predominant craniocervical or upper limb onset","torsion dystonia 13"],[12895,"Primary dystonia, DYT17 type","torsion dystonia 17"],[9141,"Primary dystonia, DYT2 type","DYT2","torsion dystonia 2"],[13813,"Primary dystonia, DYT21 type","DYT21","dystonia 21"],[14627,"Primary dystonia, DYT27 type","dystonia 27"],[7493,"Primary dystonia, DYT4 type","DYT4","Hereditary whispering dysphonia","torsion dystonia 4"],[11264,"Primary dystonia, DYT6 type","DYT6","Generalized cervical and upper-limb-onset dystonia","Idiopathic torsion dystonia of mixed type","torsion dystonia 6"],[18842,"Primary effusion lymphoma","Body cavity-based lymphoma","PEL"],[7571,"Primary erythromelalgia","Primary erythermalgia"],[18167,"Primary essential cutis verticis gyrata"],[1503,"primary eye hypotony"],[7434,"Primary failure of tooth eruption","PFE","Primary retention of teeth"],[7572,"Primary familial and congenital erythrocytosis","Primary hereditary and congenital polycythemia","Primary familial and congenital erythrocytosis due to erythropoietin receptor mutation","PFCE","PFCP","Primary hereditary and congenital erythrocytosis","Primary familial and congenital polycythemia","Primary hereditary and congenital erythrocytosis due to erythropoietin receptor mutation","Primary familial and congenital polycythemia due to erythropoietin receptor mutation","Primary hereditary and congenital polycythemia due to erythropoietin receptor mutation","primary familial polycythemia due to EPO receptor mutation"],[7600,"Primary Fanconi renotubular syndrome","DeToni-Debré-Fanconi syndrome","Primary Fanconi renal syndrome","primary Fanconi syndrome"],[15072,"Primary hepatic neuroendocrine carcinoma","liver neuroendocrine carcinoma"],[14200,"Primary hyperaldosteronism-seizures-neurological abnormalities syndrome","aldosterone-producing adenoma with seizures and neurological abnormalities"],[17833,"Primary hypereosinophilic syndrome","Clonal hypereosinophilic syndrome","HES-M","HES-N","Neoplastic hypereosinophilic syndrome","Primary HES"],[9420,"Primary hypergonadotropic hypogonadism-partial alopecia syndrome","Al Awadi-Farag-Teebi syndrome"],[2474,"Primary hyperoxaluria"],[9823,"Primary hyperoxaluria type 1","Glycolic aciduria","Peroxisomal alanine-glyoxylate aminotransferase deficiency"],[9824,"Primary hyperoxaluria type 2","D-glycerate dehydrogenase deficiency","L-glyceric aciduria"],[13327,"Primary hyperoxaluria type 3"],[10837,"primary hyperparathyroidism"],[17624,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis","FHHNC","Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis","Michellis-Castrillo syndrome"],[9548,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement","FHHNC with severe ocular involvement","Hypercalciuria-bilateral macular coloboma syndrome","Meier-Blumberg-Imahorn syndrome","renal hypomagnesemia 5 with ocular involvement"],[9550,"Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement","FHHNC without severe ocular involvement","HOMG3","Renal hypomagnesemia type 3","renal hypomagnesemia 3"],[11176,"Primary hypomagnesemia with secondary hypocalcemia","Hypomagnesemia caused by selective magnesium malabsorption","Hypomagnesemia intestinal type 1","Intestinal hypomagnesemia with secondary hypocalcemia","PHSH","HOMG1","HSH","intestinal hypomagnesemia 1"],[850087,"Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome"],[12559,"Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency","Primary immunodeficiency syndrome due to LAMTOR2 deficiency","Primary immunodeficiency syndrome due to P14 deficiency","Primary immunodeficiency syndrome due to P14/Late endosomal/lysosomal adaptor, MAPK and MTOR activator 2 deficiency"],[12383,"Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency","Primary immunodeficiency due to MCM4 deficiency"],[14715,"Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection","Primary immunodeficiency with post-MMR vaccine viral infection"],[958098,"Primary inferior vena cava aneurysm"],[7916,"Primary intestinal lymphangiectasia","Waldmann disease"],[18806,"Primary intrahepatic lithiasis","PIHL","Primary hepatolithiasis"],[15314,"Primary laryngeal lymphangioma"],[18155,"Primary lateral sclerosis","Adult-onset PLS","Adult-onset primary lateral sclerosis","PLS","lateral sclerosis"],[17817,"Primary localized amyloidosis"],[17907,"Primary lymphoma of the conjunctiva","Primary lymphoid conjunctival tumor"],[20323,"Primary mediastinal large B-cell lymphoma","Large cell lymphoma of the mediastinum","Med-DLBCL","Mediastinal diffuse large-cell lymphoma with sclerosis","Primary mediastinal clear cell lymphoma of B-cell type"],[16549,"Primary megaureter, adult-onset form"],[16747,"Primary melanoma of the central nervous system","Malignant melanoma of meninges","Primary melanoma of the CNS"],[18904,"Primary membranoproliferative glomerulonephritis","Mesangiocapillary glomerulonephritis","Primary MPGN"],[13860,"Primary membranous glomerulonephritis","Idiopathic membranous glomerulonephritis","Primary membranous nephropathy"],[31481,"Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome","microcephaly, epilepsy, and diabetes syndrome 1"],[18320,"Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome"],[9692,"Primary myelofibrosis","Agnogenic myeloid metaplasia","Idiopathic myelofibrosis","Myelofibrosis with myeloid metaplasia","Osteomyelofibrosis"],[18168,"Primary non-essential cutis verticis gyrata"],[17327,"Primary non-gestational choriocarcinoma of ovary","NGCO","Primary non-gestational ovarian choriocarcinoma"],[17205,"Primary oculocerebral lymphoma","Primary oculocerebral non-Hodgkin lymphoma"],[1084,"primary optic atrophy"],[16546,"Primary orthostatic tremor","POT"],[5387,"primary ovarian failure"],[19494,"Primary pediatric heart tumor","Cardiac tumor of child","Heart tumor of child"],[15686,"Primary peritoneal carcinoma"],[15042,"Primary plasmacytoma of the bone"],[18593,"Primary polyarteritis nodosa","Primary PAN","Primary periarteritis nodosa"],[17803,"Primary progressive apraxia of speech","PPAOS"],[19160,"Primary progressive freezing gait","PPFG"],[9936,"Primary pulmonary hypoplasia","familial primary pulmonary hypoplasia"],[16570,"Primary pulmonary lymphoma"],[957462,"Primary pulmonary tuberculosis","Tuberculosis of respiratory system"],[957433,"Primary pulmonary vein stenosis","Congenital pulmonary vein stenosis","PPVS"],[13433,"Primary sclerosing cholangitis","PSC"],[10030,"Primary Sjögren disease","Sjogren syndrome"],[958097,"Primary superior vena cava aneurysm","SVCA"],[20508,"Primary syringomyelia","Congenital syringomyelia"],[17816,"Primary systemic amyloidosis","Systemic AL amyloidosis"],[17086,"Primary tethered cord syndrome","Primary tethered spinal cord syndrome"],[35423,"Primary triglyceride deposit cardiomyovasculopathy","P-TGCV","Primary neutral lipid storage disease with severe cardiovascular involvement"],[16504,"Primary unilateral adrenal hyperplasia","PUAH"],[979292,"Primary vitreoretinal large B-cell lymphoma","PVLR","PVR-LBCL","Primary diffuse large B-cell lymphoma of the virtreoretina"],[16284,"Primitive neuroectodermal tumor of the cervix uteri","Cervical malignant peripheral neuroectodermal tumor","Cervical peripheral neuroectodermal cancer","Malignant peripheral neuroectodermal tumor of the cervix uteri","Peripheral neuroectodermal cancer of cervix uteri"],[16263,"Primitive neuroectodermal tumor of the corpus uteri","Malignant peripheral neuroectodermal tumor of the corpus uteri","Peripheral neuroectodermal cancer of the corpus uteri"],[18475,"PRKAR1B-related neurodegenerative dementia with intermediate filaments"],[15390,"Proboscis lateralis","Congenital tubular nose"],[8311,"Progeria-short stature-pigmented nevi syndrome","Mulvihill-Smith syndrome"],[14831,"Progeroid and marfanoid aspect-lipodystrophy syndrome"],[14527,"Progeroid features-hepatocellular carcinoma predisposition syndrome","Ruijs-Aalfs syndrome"],[14572,"Progressive autosomal recessive ataxia-deafness syndrome","Lichtenstein-Knorr syndrome","Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome","SCAR19"],[10932,"Progressive bifocal chorioretinal atrophy","CRAPB","PBCRA"],[8890,"progressive bulbar palsy"],[15349,"Progressive cavitating leukoencephalopathy"],[16589,"Progressive cerebello-cerebral atrophy","PCCA","obsolete progressive cerebello-cerebral atrophy"],[455,"Progressive cone dystrophy","Cone dystrophy"],[11080,"Progressive deafness with stapes fixation","Progressive hearing loss with stapes fixation","Stapedo-vestibular ankylosis","Thies-Reis syndrome"],[35161,"Progressive dementia with neuroserpin inclusion bodies","Late-onset familial encephalopathy with neuroserpin inclusion bodies"],[18581,"Progressive encephalomyelitis with rigidity and myoclonus","PERM"],[14464,"Progressive encephalopathy with leukodystrophy due to DECR deficiency","2,4-dienoyl-CoA reductase deficiency","DECR deficiency with hyperlysinemia"],[14402,"Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome","Celia disease","Celia encephalopathy","Severe neurodegenerative syndrome due to BSCL2 deficiency","severe neurodegenerative syndrome with lipodystrophy"],[14559,"Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome"],[5181,"progressive external ophthalmoplegia"],[14039,"Progressive external ophthalmoplegia-myopathy-emaciation syndrome","Mitochondrial DNA maintenance syndrome due to MGME1 deficiency","PEO-myopathy-emaciation syndrome","mtDNA maintenance syndrome due to MGME1 deficiency","mitochondrial DNA depletion syndrome 11"],[15762,"Progressive familial intrahepatic cholestasis","PFIC"],[8892,"Progressive familial intrahepatic cholestasis type 1","Byler disease","FIC1 deficiency","PFIC1"],[11156,"Progressive familial intrahepatic cholestasis type 2","BSEP deficiency","PFIC2"],[11214,"Progressive familial intrahepatic cholestasis type 3","PFIC3"],[14381,"Progressive familial intrahepatic cholestasis type 4","PFIC4","TJP2 deficit","cholestasis, progressive familial intrahepatic, 4"],[14884,"Progressive familial intrahepatic cholestasis type 5","NR1H4 deficiency","PFIC5","cholestasis, progressive familial intrahepatic, 5"],[7710,"Progressive hemifacial atrophy","Hemifacial atrophy","PHA","Parry-Romberg syndrome","Progressive facial hemiatrophy","Romberg syndrome","facial hemiatrophy"],[14714,"Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome"],[16318,"Progressive multifocal leukoencephalopathy","PML","Progressive multifocal leukoencephalitis"],[18687,"Progressive muscular atrophy","PMA"],[9698,"Progressive myoclonic epilepsy type 1","EPM1","Progressive myoclonus epilepsy type 1","ULD","Unverricht-Lundborg disease","Unverricht-Lundborg syndrome"],[12721,"Progressive myoclonic epilepsy type 3","EPM3","PME type 3","Progressive myoclonic epilepsy due to KCTD7 deficiency","Progressive myoclonus epilepsy type 3","CLN14 disease","NCL14","Neuronal ceroid lipofuscinosis type 14"],[11835,"Progressive myoclonic epilepsy type 5","EPM5","PME type 5","Progressive myoclonus epilepsy type 5","sensory ataxic neuropathy, dysarthria, and ophthalmoparesis","Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome","SANDO"],[13526,"Progressive myoclonic epilepsy type 6","EPM6","GOSR2-related progressive myoclonus ataxia","North Sea progressive myoclonus epilepsy","PME type 6","Progressive myoclonus epilepsy type 6"],[14521,"Progressive myoclonic epilepsy type 7","EPM7","MEAK","Myoclonus epilepsy and ataxia due to potassium channel mutation","PME type 7","Progressive myoclonic epilepsy due to KV3.1 deficiency","Progressive myoclonus epilepsy type 7"],[14545,"Progressive myoclonic epilepsy type 8","EPM8","PME type 8","Progressive myoclonic epilepsy due to CERS1 deficiency","Progressive myoclonus epilepsy type 8"],[14685,"Progressive myoclonic epilepsy type 9","PME type 9","Progressive myoclonic epilepsy due to LMNB2 deficiency","Progressive myoclonus epilepsy type 9","EPM9"],[18126,"Progressive myoclonic epilepsy with dystonia","PMED","Progressive myoclonus epilepsy with dystonia"],[12391,"Progressive myoclonic epilepsy with neuroserpin inclusion bodies","Early onset familial encephalopathy with neuroserpin inclusion bodies","neuronal ceroid lipofuscinosis 8 northern epilepsy variant"],[15539,"Progressive nodular histiocytosis"],[15059,"Progressive non-fluent aphasia","Agramatic variant of PPA","Agramatic variant of primary progressive aphasia","Non-fluent variant PPA"],[16087,"Progressive non-infectious anterior vertebral fusion","Copenhagen syndrome","PAVF"],[8153,"Progressive osseous heteroplasia","Familial ectopic ossification","POH"],[13382,"Progressive polyneuropathy with bilateral striatal necrosis","progressive demyelinating neuropathy with bilateral striatal necrosis"],[8827,"Progressive pseudorheumatoid dysplasia","progressive pseudorheumatoid arthropathy of childhood"],[14060,"Progressive retinal dystrophy due to retinol transport defect","Retinol dystrophy-iris coloboma-comedogenic acne syndrome"],[14800,"Progressive scapulohumeroperoneal distal myopathy"],[16424,"Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome","Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome","Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome","Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome"],[14748,"Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome"],[19037,"Progressive supranuclear palsy","PSP syndrome"],[16563,"Progressive supranuclear palsy-corticobasal syndrome","PSP-CBS","PSP-corticobasal syndrome"],[9839,"Progressive supranuclear palsy-predominant parkinsonism syndrome","PSP-p","PSP-parkinsonism","progressive supranuclear palsy-parkinsonism syndrome"],[16564,"Progressive supranuclear palsy-progressive non-fluent aphasia syndrome","PSP-AOS","PSP-PNFA","Progressive supranuclear palsy-apraxia of speech syndrome"],[16562,"Progressive supranuclear palsy-pure akinesia with gait freezing syndrome","PSP-PAGF","PSP-pure akinesia with gait freezing"],[17851,"Progressive symmetric erythrokeratodermia","Darier-Gottron disease","Erythrokeratodermia progressiva symmetrica","Progressive symmetric erythrokeratodermia, Gottron type","erythrokeratodermia variabilis"],[10911,"Prolactinoma","prolactin-producing pituitary gland adenoma"],[1592,"prolapse of female genital organ"],[1514,"prolapse of urethra"],[8221,"Prolidase deficiency","Hyperimidodipeptiduria"],[18850,"Proliferating trichilemmal cyst"],[9543,"Prominent glabella-microcephaly-hypogenitalism syndrome","MacDermot-Winter syndrome"],[10713,"Properdin deficiency","properdin deficiency, X-linked"],[11628,"Propionic acidemia","Ketotic hyperglycinemia","Propionic aciduria","Propionyl-CoA carboxylase deficiency"],[44619,"Propylthiouracil embryofetopathy","PTU embryofetopathy","PTU embryopathy","Propylthiouracil embryopathy"],[1776,"prostate calculus"],[8315,"prostate cancer"],[5193,"prostate intraepithelial neoplasia"],[1202,"prostatic cyst"],[1506,"prostatocystitis"],[9726,"Proteasome-associated autoinflammatory syndrome","ALDD syndrome","Autoinflammation-lipodystrophy-dermatosis syndrome","PRAAS","Proteasome disability syndrome","proteosome-associated autoinflammatory syndrome"],[12868,"Protein S acquired deficiency","thrombophilia due to protein S deficiency, autosomal dominant"],[1638,"protein-deficiency anemia"],[3634,"proteinuria"],[8318,"Proteus syndrome","Partial gigantism-nevi-hemihypertrophy-macrocephaly syndrome"],[17571,"Proteus-like syndrome"],[16687,"Protoplasmic astrocytoma"],[2428,"protozoa infectious disease"],[8320,"Protrusio acetabuli"],[12756,"Proximal 16p11.2 microdeletion syndrome","Proximal del(16)(p11.2)","Proximal monosomy 16p11.2"],[13847,"Proximal 16p11.2 microduplication syndrome","Proximal dup(16)(p11.2)","Proximal trisomy 16p11.2","chromosome 16p11.2 duplication syndrome"],[18564,"Proximal 3p25.3 microdeletion syndrome","Intellectual disability-epilepsy-stereotypic hand movement syndrome","Proximal del(3)p(25.3) syndrome","Proximal monosomy 3p25.3 syndrome","3p25.3 microdeletion syndrome"],[14300,"Proximal myopathy with extrapyramidal signs"],[10923,"Proximal myopathy with focal depletion of mitochondria"],[11266,"Proximal myotonic myopathy","Myotonic dystrophy type 2","Proximal myotonic dystrophy","Ricker disease","Ricker syndrome"],[8369,"Proximal renal tubular acidosis","Renal tubular acidosis type 2","pRTA"],[19079,"Proximal spinal muscular atrophy","SMA"],[9669,"Proximal spinal muscular atrophy type 1","Infantile spinal muscular atrophy","Infantile-onset spinal muscular atrophy","SMA type 1","SMA type I","SMA-I","SMA1","Werdnig-Hoffmann disease","spinal muscular atrophy, type 1"],[9673,"Proximal spinal muscular atrophy type 2","Intermediate spinal muscular atrophy","SMA type 2","SMA type II","SMA-II","SMA2","spinal muscular atrophy, type II"],[9672,"Proximal spinal muscular atrophy type 3","Juvenile spinal muscular atrophy","Kugelberg-Welander disease","SMA type 3","SMA type III","SMA-III","SMA3","spinal muscular atrophy, type III"],[10056,"Proximal spinal muscular atrophy type 4","SMA type 4","SMA type IV","SMA-IV","SMA4","Spinal muscular atrophy, adult form","spinal muscular atrophy, type IV"],[8511,"Proximal symphalangism","Symphalangism, Cushing type"],[10283,"Proximal Xq28 duplication syndrome","syndromic X-linked intellectual disability Lubs type"],[18339,"PrP systemic amyloidosis","Chronic diarrhea with HSAN","Chronic diarrhea with hereditary sensory and autonomic neuropathy","Prion protein systemic amyloidosis"],[7032,"Prune belly syndrome"],[60490,"PRUNE1-related neurological syndrome","neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies"],[26045,"prurigo nodularis"],[8353,"Pruritic urticarial papules and plaques of pregnancy","PUPPP","Polymorphic eruption of pregnancy"],[958257,"PsAPASH syndrome","Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome"],[17800,"Pseudo-Meigs syndrome","Pseudo-Demons-Meigs syndrome"],[9626,"Pseudo-TORCH syndrome type 1","Pseudo-TORCH syndrome due to OCLN deficiency","OCLN-related pseudo-TORCH syndrome","BLC-PMG","Band like calcification with simplified gyration and polymicrogyria","Bilateral band-like calcification with polymicrogyria","Microcephaly-intracranial calcification-intellectual disability syndrome","PTORCH1","Pseudo-TORCH syndrome-1","pseudo-TORCH syndrome"],[18828,"Pseudo-TORCH syndrome type 2","Pseudo-TORCH syndrome due to USP18 deficiency","USP18-related pseudo-TORCH syndrome","PTORCH2","Pseudo-TORCH syndrome-2","pseudo-TORCH syndrome 2"],[8332,"Pseudo-von Willebrand disease","PT-VWD","Platelet type-von Willebrand disease","Pseudo-von Willebrand disease type 2B","platelet-type von Willebrand disease"],[8322,"Pseudoachondroplasia","Pseudoachondroplastic dysplasia","Pseudoachondroplastic spondyloepiphyseal dysplasia"],[10865,"Pseudoaminopterin syndrome","ASSA","Aminopterin syndrome-like sine aminopterin"],[9914,"Pseudodiastrophic dysplasia"],[12865,"Pseudofolliculitis barbae"],[5518,"pseudohermaphroditism"],[19161,"Pseudohypoaldosteronism type 1","PHA type 1","PHA1"],[19162,"Pseudohypoaldosteronism type 2","Chloride shunt syndrome","Familial hyperkalemic hypertension","Gordon hyperkalemia-hypertension syndrome","Hyperkalemia-hypertension syndrome, Gordon type","Hypertensive hyperkalemia","Mineralocorticoid resistant hyperkalemia","PHA2","PHAII","Spitzer-Weinstein syndrome"],[7772,"Pseudohypoaldosteronism type 2A","PHA2A"],[13777,"Pseudohypoaldosteronism type 2B","PHA2B"],[13778,"Pseudohypoaldosteronism type 2C","PHA2C"],[13781,"Pseudohypoaldosteronism type 2D","PHA2D"],[13782,"Pseudohypoaldosteronism type 2E","PHA2E"],[19992,"Pseudohypoparathyroidism"],[7078,"Pseudohypoparathyroidism type 1A","AHO-PHP syndrome Ia","Albright hereditary osteodystrophy-PHP syndrome Ia"],[11301,"Pseudohypoparathyroidism type 1B"],[12911,"Pseudohypoparathyroidism type 1C"],[8749,"Pseudohypoparathyroidism type 2"],[8211,"Pseudoleprechaunism syndrome, Patterson type","Patterson pseudoleprechaunism syndrome","Patterson syndrome"],[1217,"pseudomembranous conjunctivitis"],[975754,"Pseudomyogenic hemangioendothelioma","Epithelioid sarcoma-like haemangioendothelioma","Fibroma-like variant of epithelioid sarcoma"],[17048,"Pseudomyxoma peritonei","Adenomucinosis","Gelatinous ascites","PMP"],[15261,"Pseudopelade of Brocq"],[8694,"Pseudoprogeria syndrome","Absent eyebrows and eyelashes-intellectual disability syndrome","Hal-Berg-Rudolph syndrome"],[12912,"Pseudopseudohypoparathyroidism","AHO-PPHP syndrome","Albright hereditary osteodystrophy-PPHP syndrome"],[19364,"Pseudotyphus of California"],[15833,"Pseudounicornuate uterus","Incomplete unilateral Müllerian aplasia","Incomplete unilateral aplasia of the Müllerian ducts","Unicornuate uterus with rudimentary horn"],[9925,"Pseudoxanthoma elasticum","Gronblad-Strandberg-Touraine syndrome","PXE","autosomal recessive inherited pseudoxanthoma elasticum"],[16448,"Pseudoxanthoma elasticum-like papillary dermal elastolysis","PXE-like papillary dermal elastolysis"],[18577,"Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa","PXE-like syndrome with retinitis pigmentosa"],[17244,"Pseudoxanthomatous diffuse cutaneous mastocytosis","Infiltrative small vesicular DCM","Infiltrative small vesicular diffuse cutaneous mastocytosis","Pseudoxanthomatous DCM"],[5888,"Psittacosis","Ornithosis","Parrot disease","Parrot fever"],[5083,"psoriasis"],[19436,"Psoriasis-related juvenile idiopathic arthritis","Juvenile psoriatic arthritis","Psoriasis-related JIA"],[11849,"psoriatic arthritis"],[19114,"Psychogenic movement disorders","Psychogenic dystonia"],[946,"psychologic vaginismus"],[44726,"Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome","Cerebrorenal syndrome, Perez type"],[17623,"PTEN hamartoma tumor syndrome","PHTS"],[9908,"Pterin-4 alpha-carbinolamine dehydratase deficiency","Hyperphenylalaninemia due to dehydratase deficiency","Hyperphenylalaninemia due to pterin-4-alpha-carbinolamine dehydratase deficiency","Hyperphenylalaninemia with primapterinuria","pterin-4 alpha-carbinolamine dehydratase 1 deficiency"],[5085,"pterygium"],[10835,"Pterygium colli-intellectual disability-digital anomalies syndrome","Khalifa-Graham syndrome"],[1794,"Pthirus pubis infestation"],[8341,"Ptosis-strabismus-ectopic pupils syndrome","McPherson-Hall syndrome"],[16457,"Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome"],[8665,"Ptosis-vocal cord paralysis syndrome","Tucker syndrome"],[18957,"Pudendal nerve entrapment syndrome","Alcock syndrome","Pudendal algia","Pudendal neuralgia","Pudendal neuralgia by pudendal nerve entrapment","Pudendal neuropathic pain syndrome","Pudendal neuropathy","Pudendalgia"],[20110,"Pulmonary agenesis"],[9928,"Pulmonary alveolar microlithiasis"],[9930,"Pulmonary arteriovenous malformation","PAVM","obsolete pulmonary arteriovenous malformation"],[20390,"Pulmonary artery coming from patent ductus arteriosus"],[20419,"Pulmonary artery hypoplasia","PAH","Unilateral Pulmonary Artery Hypoplasia"],[8343,"Pulmonary atresia with ventricular septal defect"],[9931,"Pulmonary atresia-intact ventricular septum syndrome"],[5933,"Pulmonary blastoma","Pneumoblastoma"],[9329,"Pulmonary capillary hemangiomatosis","pulmonary venoocclusive disease 2"],[6932,"pulmonary edema"],[5279,"pulmonary embolism"],[4849,"pulmonary emphysema"],[16214,"Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome"],[2929,"pulmonary immaturity"],[16321,"Pulmonary interstitial glycogenosis","Infantile cellular interstitial pneumonitis","PIG"],[975907,"Pulmonary Langerhans cell histiocytosis","Single-system pulmonary Langerhans cell histiocytosis","Single-system pulmonary histiocytosis X","PLCH","Single-system Langerhans cell granulomatosis"],[8348,"Pulmonary nodular lymphoid hyperplasia","Pulmonary pseudolymphoma"],[18469,"Pulmonary non-tuberculous mycobacterial infection","Non-tuberculous mycobacterial lung disease"],[1708,"pulmonary sarcoidosis"],[6935,"pulmonary subvalvular stenosis"],[20389,"Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome","APV/PDA, non-Fallot type","pulmonary valve agenesis-ventricular septal defect-persistent ductus arteriosus syndrome"],[15103,"Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome","APV/ADA, Fallot type","Absence of pulmonary valve-Fallot tetralogy-absence of ductus arteriosus syndrome","PVA/ADA, Fallot type"],[9937,"Pulmonary venoocclusive disease"],[1216,"pulp degeneration"],[6937,"pulpitis"],[1513,"pulsating exophthalmos"],[11430,"Pulverulent cataract"],[958231,"PUM1-associated developmental disability-ataxia-seizure syndrome","PADDAS syndrome","neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism"],[33482,"PUM1-related cerebellar ataxia","Adult-onset SCA47","Adult-onset spinocerebellar ataxia type 47","spinocerebellar ataxia 47"],[36918,"Punctate acrokeratoderma freckle-like pigmentation"],[35584,"Punctate inner choroidopathy"],[19332,"Punctate palmoplantar keratoderma type 1","Buschke-Fischer-Brauer syndrome","Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type","PPKP1"],[8292,"Punctate palmoplantar keratoderma type 2","PPKP2","PPPP","Porokeratosis punctata palmaris et plantaris","Punctate palmoplantar hyperkeratosis type 2"],[1060108,"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome"],[14512,"PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation"],[18608,"Pure autonomic failure","Bradbury-Eggleston syndrome","Idiopathic orthostatic hypotension","PAF","Pure dysautonomia","Pure idiopatic dysautonomia"],[19071,"Pure hair and nail ectodermal dysplasia","HNED","Hair-nail ectodermal dysplasia","PHNED"],[16807,"Pure mitochondrial myopathy"],[13171,"Purine nucleoside phosphorylase deficiency","PNP deficiency","PNPase deficiency"],[1031,"purulent acute otitis media"],[4863,"purulent endophthalmitis"],[35236,"Pustular pyoderma gangrenosum"],[15597,"Pustulosis palmaris et plantaris","Palmoplantar pustulosis","LPP","Localized pustular psoriasis","PPP"],[9940,"Pycnodysostosis","Pyknodysostosis"],[13755,"PYCR1-related De Barsy syndrome","PYCR1 deficiency","Pyrroline-5-carboxylate reductase 1 deficiency"],[14632,"PYCR2-related microcephaly-progressive leukoencephalopathy","leukodystrophy, hypomyelinating, 10"],[2410,"pyeloureteritis cystica"],[9942,"Pyknoachondrogenesis","Camera syndrome"],[9943,"Pyle disease","Metaphyseal dysplasia, Pyle type","SFRP4-related Pyle disease"],[1062,"pyloric antrum cancer"],[1061,"pylorus cancer"],[2922,"pyoderma"],[18824,"Pyoderma gangrenosum"],[22096,"pyogenic granuloma"],[19168,"Pyomyositis","Myositis purulenta tropica","Myositis tropicans","PM","Suppurative myositis","Tropical pyomyositis"],[21750,"pyonephrosis"],[8706,"Pyramidal molars-abnormal upper lip syndrome","Ackerman fused molar roots syndrome","Ackerman syndrome"],[12407,"Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy","P5PD-DEE","PNPO-related neonatal epileptic encephalopathy","Pyridoxal phosphate-dependent seizures","Pyridoxal phosphate-responsive seizures","Pyridoxamine 5'-phosphate oxidase deficiency"],[9945,"Pyridoxine-dependent-developmental and epileptic encephalopathy","Antiquitin deficiency","PD-DEE","Vitamin B6-dependent seizures","pyridoxine-dependent epilepsy"],[4733,"pyriform sinus cancer"],[1522,"pyromania"],[9949,"Pyruvate carboxylase deficiency","Ataxia with lactic acidosis type 2","Ataxia with lactic acidosis type II","Leigh necrotizing encephalopathy due to pyruvate carboxylase deficiency","Leigh syndrome due to PC deficiency","Leigh syndrome due to pyruvate carboxylase deficiency","pyruvate carboxylase deficiency disease"],[18143,"Pyruvate carboxylase deficiency, benign type","Pyruvate carboxylase deficiency type C"],[18141,"Pyruvate carboxylase deficiency, infantile type","Pyruvate carboxylase deficiency type A","pyruvate carboxylase deficiency, infantile form"],[18142,"Pyruvate carboxylase deficiency, severe neonatal type","Pyruvate carboxylase deficiency type B"],[19169,"Pyruvate dehydrogenase deficiency","PDH","PDHC","Pyruvate dehydrogenase complex deficiency"],[10717,"Pyruvate dehydrogenase E1-alpha deficiency","PDHAD","Pyruvate decarboxylase deficiency","Pyruvate dehydrogenase complex E1 component subunit alpha deficiency"],[13580,"Pyruvate dehydrogenase E1-beta deficiency","PDHBD","Pyruvate dehydrogenase complex E1 component subunit beta deficiency"],[9502,"Pyruvate dehydrogenase E2 deficiency","Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency","Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency","Pyruvate dehydrogenase complex component E2 deficiency"],[9529,"Pyruvate dehydrogenase E3 deficiency","DLD deficiency","Dihydrolipoamide dehydrogenase deficiency","E3-deficient maple syrup urine disease"],[9503,"Pyruvate dehydrogenase E3-binding protein deficiency","2-oxoglutarate complex deficiency","Branched chain alpha-ketoacid dehydrogenase complex deficiency","Diaphorase deficiency","Dihydrolipoyl dehydrogenase deficiency","Glycine cleavage system L protein deficiency","Lipoamide dehydrogenase deficiency","Pyruvate dehydrogenase complex component E3 deficiency","Pyruvate dehydrogenase protein X component deficiency"],[12120,"Pyruvate dehydrogenase phosphatase deficiency","PDH phosphatase deficiency"],[19186,"Q fever","Coxiellosis","Infection due to Coxiella burnetii","Nine Mile fever","Quadrilateral fever","Query fever"],[10816,"Qazi-Markouizos syndrome","Dysharmonic skeletal maturation-muscular fiber disproportion syndrome","Qazi Markouizos syndrome"],[60707,"QRICH1-related intellectual disability-chondrodysplasia syndrome","Ververi-Brady syndrome 1"],[30006,"QRSL1-related combined oxidative phosphorylation defect","QRSL1-related COXPD","combined oxidative phosphorylation deficiency 40"],[35267,"Quadricuspid aortic valve","obsolete quadricuspid aortic valve"],[1590,"quadriplegia"],[11136,"Quebec platelet disorder","Factor V Quebec"],[1118,"Queensland tick typhus"],[18103,"Quinquaud folliculitis decalvans","Quinquaud's folliculitis decalvans"],[19173,"Rabies"],[9874,"Rabson-Mendenhall syndrome"],[15232,"Radial deficiency-tibial hypoplasia syndrome"],[8357,"Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome","Schmitt-Gillenwater-Kelly syndrome"],[6940,"radial nerve lesion"],[8358,"Radial ray hypoplasia-choanal atresia syndrome","Goldblatt-Viljoen syndrome"],[4112,"radiation cystitis"],[19529,"Radiation myelitis"],[19084,"Radiation proctitis"],[100635,"radiation-induced neuropathy"],[33838,"Radiation-induced plexopathy"],[2959,"radiculopathy"],[8359,"Radio-renal syndrome"],[11555,"Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome","ATRUS syndrome"],[43771,"radiodermatitis"],[9952,"Radioulnar synostosis-developmental delay-hypotonia syndrome","Der Kaloustian-McIntosh-Silver syndrome"],[11320,"Radioulnar synostosis-microcephaly-scoliosis syndrome","Giuffré-Tsukahara syndrome","Tsukahara syndrome"],[9954,"Ramon syndrome","Cherubism-gingival fibromatosis-intellectual disability syndrome"],[7382,"Ramos-Arroyo syndrome","Corneal anesthesia-deafness-intellectual disability syndrome","Corneal anesthesia-hearing loss-intellectual disability syndrome"],[5769,"Ramsay Hunt syndrome","geniculate herpes zoster"],[9955,"RAPADILINO syndrome"],[17408,"Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome","ROHHAD","ROHHADNET","Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation-neural tumors syndrome"],[7496,"Rapid-onset dystonia-parkinsonism","DYT12","Dystonia 12"],[15404,"Rapidly involuting congenital hemangioma","RICH","Rapidly involuting congenital haemangioma"],[19851,"Rare acquired premature ovarian failure","acquired primary ovarian failure"],[16250,"Rare adenocarcinoma of the breast","obsolete rare adenocarcinoma of the breast"],[15869,"Rare benign breast tumor","obsolete rare benign breast tumor"],[1713,"Rare constitutional aplastic anemia","inherited aplastic anemia"],[15904,"Rare hypolipidemia","obsolete rare hypolipidemia"],[20207,"Rare isolated myopia","obsolete rare isolated myopia"],[2013,"Rare lymphatic malformation","LM","Lymphangioma"],[19852,"Rare non-acquired premature ovarian failure","inherited primary ovarian failure"],[19497,"Rare non-syndromic genetic deafness","Rare isolated genetic deafness","Rare isolated genetic hearing loss","Rare non-syndromic genetic hearing loss","nonsyndromic genetic hearing loss"],[15108,"Rare non-syndromic intellectual disability","Rare NSID","obsolete rare non-syndromic intellectual disability"],[14506,"RARS-related autosomal recessive hypomyelinating leukodystrophy","leukodystrophy, hypomyelinating, 9"],[13767,"RAS-associated autoimmune leukoproliferative disease","RALD","autoimmune lymphoproliferative syndrome type 4"],[20783,"RASA1-related capillary malformation-arteriovenous malformation","CM-AVM1","capillary malformation-arteriovenous malformation 1"],[16019,"Rasmussen syndrome","Rasmussen subacute encephalitis"],[6941,"Rat-bite fever"],[859219,"Rauch-Steindl syndrome","NSD2-related syndrome"],[20505,"Ravine syndrome","Progressive encephalopathy with severe infantile anorexia","Reunion island-anorexia-vomiting which is irrepressible-neurological signs syndrome"],[8364,"Raynaud disease"],[17376,"Reactive arthritis"],[19310,"Recessive dystrophic epidermolysis bullosa inversa","RDEB inversa","RDEB-I"],[17232,"Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome","IDMDC"],[19791,"Recessive mitochondrial ataxia syndrome","MIRAS"],[10622,"Recessive X-linked ichthyosis","RXLI","Steroid sulfatase deficiency","X-linked ichthyosis","XLI"],[8365,"Recombinant 8 syndrome","Duplication 8q/deletion 8p","Rec(8) syndrome","Rec8 syndrome","Recombinant chromosome 8 syndrome","San Luis Valley syndrome"],[6519,"rectal cancer"],[4754,"rectal prolapse"],[2425,"rectosigmoid junction cancer"],[4725,"rectum carcinoma in situ"],[4617,"recurrent hypersomnia"],[44689,"Recurrent idiopathic neuroretinitis","RINR"],[13576,"Recurrent infections associated with rare immunoglobulin isotypes deficiency","IgG subclass deficiency with IgA subclass deficiency","Isolated IgG subclass deficiency","Kappa-chain deficiency","Selective IgG subclass deficiency"],[9506,"Recurrent infections due to specific granule deficiency","Neutrophil-specific granule deficiency","specific granule deficiency"],[18820,"Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome","TANGO2-related metabolic encephalopathy-arrhythmia syndrome"],[13487,"Recurrent Neisseria infections due to factor D deficiency"],[18955,"Recurrent respiratory papillomatosis"],[10565,"red color blindness"],[10564,"red-green color blindness"],[19948,"Reducing body myopathy"],[15692,"Refractory anemia with excess blasts in transformation","RAEB-t"],[18353,"Refractory celiac disease","Refractory CD","Refractory sprue"],[19367,"Regional odontodysplasia","Ghost teeth"],[18663,"Regressive spondylometaphyseal dysplasia"],[1364,"regular astigmatism"],[12043,"Reis-Bücklers corneal dystrophy","Anterior limiting membrane dystrophy type 1","Anterior limiting membrane dystrophy type I","Atypical granular corneal dystrophy","Corneal dystrophy of Bowman layer type 1","Corneal dystrophy of Bowman layer type I","Geographic corneal dystrophy","Granular corneal dystrophy type 3","Granular corneal dystrophy type III","RBCD","Superficial granular corneal dystrophy","Reis-Bucklers corneal dystrophy"],[33980,"RELA fusion-positive ependymoma","Supratentorial C11ORF95-RELA fused ependymoma"],[32659,"RELA haploinsufficiency-associated inflammatory disease","RAID","autoinflammatory disease, familial, Behcet-like-3"],[20571,"Relapsing epidemic typhus"],[19633,"Relapsing fever"],[19125,"Relapsing polychondritis","Polychondropathia"],[5937,"REM sleep behavior disorder"],[13128,"REN-related autosomal dominant tubulointerstitial kidney disease","ADTKD-REN","FJHN type 2","Familial juvenile hyperuricemic nephropathy type 2","REN-associated FJHN","REN-associated familial juvenile hyperuricemic nephropathy","REN-associated kidney disease"],[18470,"Renal agenesis"],[15986,"Renal agenesis, bilateral","bilateral renal agenesis"],[19636,"Renal agenesis, unilateral"],[1876,"renal artery atheroma"],[17281,"Renal caliceal diverticuli-deafness syndrome","Renal caliceal diverticuli-hearing loss syndrome"],[7352,"Renal coloboma syndrome","Coloboma of optic nerve with renal disease","Papillo-renal syndrome"],[19638,"Renal dysplasia","Kidney dysplasia"],[19645,"Renal dysplasia, bilateral","Kidney dysplasia, bilateral"],[19644,"Renal dysplasia, unilateral","Kidney dysplasia, unilateral"],[19637,"Renal hypoplasia"],[19980,"Renal hypoplasia, bilateral"],[19979,"Renal hypoplasia, unilateral"],[6260,"Renal medullary carcinoma","kidney medullary carcinoma"],[19105,"Renal nutcracker syndrome","Left renal vein entrapment syndrome","RNS"],[6946,"renal osteodystrophy"],[5519,"renal pelvis carcinoma"],[8329,"Renal pseudohypoaldosteronism type 1","Autosomal dominant PHA1","Autosomal dominant pseudohypoaldosteronism type 1","Renal PHA1"],[17609,"Renal tubular dysgenesis","Primitive renal tubule syndrome","Renotubular dysgenesis"],[19984,"Renal tubular dysgenesis due to twin-twin transfusion"],[9970,"Renal tubular dysgenesis of genetic origin"],[16811,"Renal tubulopathy-encephalopathy-liver failure syndrome"],[17417,"Renal-hepatic-pancreatic dysplasia","Ivemark II syndrome","Renohepaticopancreatic dysplasia"],[15057,"Renin-angiotensin-aldosterone system-blocker-induced angioedema","ACE inhibitor-related acquired angioedema","ACEI-related acquired angioedema","Acquired angioedema with normal C1 inhibitor","Acquired angioedema with normal C1INH","RAAS-blocker-induced angioedema","RAAS-blocker-induced angioneurotic edema","RAE","Renin-angiotensin-aldosterone system-blocker-induced angioneurotic edema"],[6947,"renovascular hypertension"],[10653,"Renpenning syndrome","X-linked intellectual disability due to PQBP1 mutations","X-linked intellectual disability, Renpenning type"],[14857,"RERE-related neurodevelopmental syndrome","neurodevelopmental disorder with or without anomalies of the brain, eye, or heart"],[1864,"residual stage angle-closure glaucoma"],[34216,"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha"],[700478,"Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta","RTHb","Resistance to thyroid hormone beta","Resistance to thyroid hormone due to a mutation in TRb"],[32819,"Resistance to thyrotropin-releasing hormone syndrome","Central hypothyroidism due to TRH receptor deficiency","TRH resistance syndrome","hypothyroidism, congenital, nongoitrous, 7"],[19204,"Respiratory bronchiolitis-interstitial lung disease syndrome","RB-ILD"],[5087,"respiratory system disorder"],[5391,"restless legs syndrome"],[31213,"Restrictive dermopathy","Lethal hyperkeratosis-contracture syndrome","Lethal restrictive dermopathy","Lethal tight skin-contracture syndrome"],[958348,"Retained medullary cord"],[9973,"Reticular dysgenesis","AK2 deficiency","De Vaal disease","SCID with sensorineural deafness","SCID with sensorineural hearing loss","Severe combined immunodeficiency with sensorineural deafness","Severe combined immunodeficiency with sensorineural hearing loss"],[9979,"Reticular dystrophy of the retinal pigment epithelium"],[15029,"Reticular perineurioma"],[14234,"Reticulate acropigmentation of Kitamura","RAK"],[18713,"Retiform hemangioendothelioma"],[3072,"retinal cancer"],[19101,"Retinal cavernous hemangioma","Cavernous hemangioma of the retina","RCH","retinal capillary malformation"],[9978,"Retinal degeneration-nanophthalmos-glaucoma syndrome","Mackay-Shek-Carr syndrome"],[14483,"Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies","Retinal dystrophy with inner nuclear layer and ganglion cell anomalies"],[4037,"retinal edema"],[1538,"retinal ischemia"],[10177,"Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome","Rambaud-Gallian syndrome","Rambaud-Gallian-Touchard syndrome","vascular hyalinosis"],[1455,"retinal lattice degeneration"],[11957,"Retinal macular dystrophy type 2","Autosomal dominant bull's-eye macular dystrophy","MCDR2","PROM1-related retinal macular dystrophy"],[2089,"retinal vascular occlusion"],[6950,"retinal vasculitis"],[8641,"Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations"],[19200,"Retinitis pigmentosa"],[44634,"Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome","Retinitis pigmentosa-deafness-premature aging-short stature-facial dysmorphism syndrome"],[9983,"Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome","Edwards-Sethi syndrome","Retinitis pigmentosa-intellectual disability- labyrinthine deafness-hypogenitalism syndrome","Retinitis pigmentosa-intellectual disability-sensorineural hearing loss-hypogenitalism syndrome","retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome"],[14495,"Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome","Retinal dystrophy-juvenile cataract-short stature syndrome"],[18877,"Retinitis punctata albescens","RPA"],[8380,"Retinoblastoma"],[6952,"Retinopathy of prematurity","ROP","Retrolental fibroplasia"],[24335,"retrobulbar neuritis"],[3040,"retrograde amnesia"],[4682,"retromolar area cancer"],[10726,"Rett syndrome"],[17291,"Reversible cerebral vasoconstriction syndrome","RCVS"],[9990,"Revesz syndrome","Dyskeratosis congenita with bilateral exudative retinopathy","Retinopathy-anemia-central nervous system anomalies syndrome","Revesz-DeBuse syndrome"],[5942,"Reye syndrome"],[13276,"Reynolds syndrome","Primary biliary cirrhosis and systemic scleroderma"],[12783,"RFT1-CDG","CDG syndrome type In","CDG-In","CDG1N","Carbohydrate deficient glycoprotein syndrome type In","Congenital disorder of glycosylation type 1n","Congenital disorder of glycosylation type In","Man5GlcNAc2-PP-Dol flippase deficiency","RFT1-congenital disorder of glycosylation"],[24537,"RFVT2-related riboflavin transporter deficiency","RTD2","Riboflavin transporter deficiency 2","Brown-Vialetto-van Laere syndrome 1"],[13867,"RFVT3-related riboflavin transporter deficiency","RTD3","Riboflavin transporter deficiency 3","Brown-Vialetto-van Laere syndrome 2"],[19107,"Rh deficiency syndrome","Rh-null syndrome"],[2728,"Rhabdoid tumor","Malignant rhabdoid tumor"],[16473,"Rhabdoid tumor predisposition syndrome","RTPS","familial rhabdoid tumor"],[5212,"Rhabdomyosarcoma"],[16282,"Rhabdomyosarcoma of the cervix uteri","Cervical rhabdomyosarcoma"],[16260,"Rhabdomyosarcoma of the corpus uteri","uterine corpus rhabdomyosarcoma"],[5464,"rhegmatogenous retinal detachment"],[1899,"rheumatic congestive heart failure"],[17767,"Rheumatic fever","Acute rheumatic fever"],[4582,"rheumatic myocarditis"],[19432,"Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis","Juvenile polyarthritis without rheumatoid factor","Juvenile rheumatoid factor-negative polyarthritis","Rheumatoid factor-negative polyarticular JIA","rheumatoid factor-negative juvenile idiopathic arthritis"],[19435,"Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis","Juvenile idiopathic rheumatoid factor-positive polyarthritis","Juvenile polyarthritis with rheumatoid factor","Rheumatoid factor-positive polyarticular JIA"],[3014,"rhinitis"],[43777,"rhinophyma"],[5946,"rhinosporidiosis"],[15776,"Rhizomelic chondrodysplasia punctata","RCDP"],[8972,"Rhizomelic chondrodysplasia punctata type 1"],[9112,"Rhizomelic chondrodysplasia punctata type 2"],[10823,"Rhizomelic chondrodysplasia punctata type 3"],[14743,"Rhizomelic chondrodysplasia punctata type 5"],[11079,"Rhizomelic dysplasia, Patterson-Lowry type"],[9996,"Rhizomelic syndrome, Urbach type"],[11202,"RHYNS syndrome","Retinitis pigmentosa-hypopituitarism-nephronophthisis-skeletal dysplasia syndrome"],[8891,"Riboflavin transporter deficiency","Brown-Vialetto-van Laere syndrome"],[12073,"Ribose-5-P isomerase deficiency"],[9493,"Richards-Rundle syndrome","Ketoaciduria-intellectual disability-ataxia-deafness syndrome","Ketoaciduria-intellectual disability-ataxia-hearing loss syndrome"],[9716,"Richieri Costa-da Silva syndrome","Myotonia-intellectual disability-skeletal anomalies syndrome"],[9998,"Richieri Costa-Pereira syndrome","Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome","Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome"],[35511,"Ricin poisoning"],[19360,"Rickettsialpox"],[6956,"Rickettsiosis"],[12764,"RIDDLE syndrome","RNF168 deficiency","Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome"],[19628,"Rieger anomaly"],[17880,"Rift valley fever"],[20417,"Right aortic arch"],[20448,"Right inferior vena cava connecting to left-sided atrium","Right IVC connecting to left-sided atrium","Right inferior caval vein connecting to left-sided atrium"],[8832,"Right isomerism","Ivemark syndrome","RAI","Right atrial isomerism"],[20441,"Right superior vena cava connecting to left-sided atrium","Right SVC connecting to left-sided atrium","Right superior caval vein connecting to left-sided atrium"],[19951,"Rigid spine syndrome","Rigid spine congenital muscular dystrophy"],[13115,"RIN2 syndrome","MACS syndrome","Macrocephaly-alopecia-cutis laxa-scoliosis syndrome","RIN2 deficiency","Tall forehead-sparse hair-skin hyperextensibility-scoliosis syndrome"],[15430,"Ring chromosome 1 syndrome","Ring 1","Ring chromosome 1","r(1) syndrome"],[15431,"Ring chromosome 10 syndrome","Ring 10","Ring chromosome 10"],[19906,"Ring chromosome 11 syndrome","RC11","Ring 11","Ring chromosome 11","r(11) syndrome"],[15432,"Ring chromosome 12 syndrome","Ring 12","Ring chromosome 12"],[19907,"Ring chromosome 13 syndrome","Ring 13","Ring chromosome 13"],[14708,"Ring chromosome 14 syndrome","Ring 14","Ring chromosome 14"],[19908,"Ring chromosome 15 syndrome","Ring 15","Ring chromosome 15"],[19909,"Ring chromosome 16 syndrome","Ring 16","Ring chromosome 16"],[15433,"Ring chromosome 17 syndrome","Ring 17","Ring chromosome 17"],[15434,"Ring chromosome 18 syndrome","Ring 18","Ring chromosome 18"],[15435,"Ring chromosome 19 syndrome","Ring 19","Ring chromosome 19"],[19903,"Ring chromosome 2 syndrome","Ring 2","Ring chromosome 2"],[15436,"Ring chromosome 20 syndrome","Ring 20","Ring chromosome 20"],[15437,"Ring chromosome 21 syndrome","ring chromosome 21"],[15438,"Ring chromosome 22 syndrome","Ring 22","Ring chromosome 22","r(22) syndrome"],[19904,"Ring chromosome 3 syndrome","Ring 3","Ring chromosome 3"],[15439,"Ring chromosome 4 syndrome","Syndrome r(4)","r(4) syndrome","Ring 4","Ring chromosome 4"],[16654,"Ring chromosome 5 syndrome","Ring 5","Ring chromosome 5"],[15440,"Ring chromosome 6 syndrome","Ring 6","Ring chromosome 6"],[15441,"Ring chromosome 7 syndrome","Ring 7","Ring chromosome 7"],[15443,"Ring chromosome 8 syndrome","Ring 8","Ring chromosome 8","r(8) syndrome","chromosome 8-derived supernumerary ring/marker"],[19905,"Ring chromosome 9 syndrome","Ring 9","Ring chromosome 9"],[16853,"Ring chromosome Y syndrome","Ring chromosome Y","r(Y)"],[1037,"ring corneal ulcer"],[8387,"Ring dermoid of cornea","Ring dermoid syndrome"],[1320,"ring staphyloma"],[8388,"Ringed hair disease","Pili annulati"],[19947,"Rippling muscle disease","rippling muscle disease 2"],[16100,"Rippling muscle disease with myasthenia gravis","Acquired rippling muscle disease","Immune-mediated rippling muscle disease"],[975920,"RNASEH2B-related hereditary spastic paraplegia","Ribonuclease H2 subunit B-related hereditary spastic paraplegia"],[34106,"RNF13-related severe early-onset epileptic encephalopathy","RNF13-related severe EOEE","developmental and epileptic encephalopathy, 73"],[100253,"Roberts syndrome","Pseudothalidomide syndrome","Roberts-SC phocomelia syndrome","SC phocomelia","SC pseudothalidomide syndrome"],[8247,"Robin sequence-oligodactyly syndrome","Pierre Robin sequence-oligodactyly syndrome"],[19978,"Robinow syndrome","Acral dysostosis with facial and genital abnormalities","Fetal face syndrome","Mesomelic dwarfism-small genitalia syndrome","Robinow dwarfism","Robinow-Silverman-Smith syndrome"],[18884,"Roch-Leri mesosomatous lipomatosis"],[19359,"Rocky Mountain spotted fever"],[14722,"Roifman syndrome","Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome"],[11970,"Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome","Rolandic epilepsy exercise-induced dystonia"],[15587,"Rolandic epilepsy-speech dyspraxia syndrome"],[8390,"Rombo syndrome"],[6604,"rosacea"],[4856,"rosacea conjunctivitis"],[13999,"ROSAH syndrome","Optic nerve edema-splenomegaly syndrome","Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome","retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome"],[6412,"Rosaï-Dorfman disease","Sinus histiocytosis with massive lymphadenopathy","Destombes-Rosaï-Dorfman disease","Rosaï-Dorfman-Destombes disease","SHML"],[16736,"Rosette-forming glioneuronal tumor","RGNT","rosette-forming glioneuronal tumor of fourth ventricule"],[344,"Ross river fever"],[7028,"rotator cuff syndrome"],[10002,"Rothmund-Thomson syndrome"],[16368,"Rothmund-Thomson syndrome type 1","Poikiloderma of Rothmund-Thomson type 1","RTS1"],[16369,"Rothmund-Thomson syndrome type 2","RTS2","Poikiloderma of Rothmund-Thomson type 2"],[9379,"Rotor syndrome","Hyperbilirubinemia, Rotor type"],[1352,"round ligament malignant neoplasm"],[8392,"Roussy-Lévy syndrome","Hereditary areflexic dystasia, Roussy-Lévy type","Roussy-Levy syndrome"],[41186,"Rowell syndrome"],[4656,"rubella"],[20648,"rubella encephalitis"],[19386,"Rubella panencephalitis","progressive rubella panencephalitis"],[19188,"Rubinstein-Taybi syndrome","Broad thumb-hallux syndrome","Broad thumbs-halluces syndrome"],[12519,"Rubinstein-Taybi syndrome due to 16p13.3 microdeletion"],[8393,"Rubinstein-Taybi syndrome due to CREBBP mutations"],[13364,"Rubinstein-Taybi syndrome due to EP300 haploinsufficiency"],[8395,"Ruvalcaba syndrome"],[13404,"S-adenosylhomocysteine hydrolase deficiency","hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase"],[10005,"Saccharopinuria","Hyperlysinemia type II","Saccharopine dehydrogenase deficiency"],[970963,"Saccular limited dorsal myeloschisis","Saccular LDM"],[14314,"Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome"],[42727,"Sacrococcygeal teratoma"],[7042,"Saethre-Chotzen syndrome"],[17584,"Sagliker syndrome"],[9964,"Saldino-Mainzer syndrome","Conorenal syndrome","Renal dysplasia-retinal pigmentary dystrophy-cerebellar ataxia-skeletal dysplasia syndrome","short-rib thoracic dysplasia 9 with or without polydactyly"],[4669,"salivary gland cancer"],[100508,"Salivary gland type cancer of the breast","Salivary gland type carcinoma of the breast"],[11449,"Salla disease"],[850066,"SAMD9L-associated autoinflammatory syndrome","SAMD9L-SAAD"],[10006,"Sandhoff disease"],[17723,"Sandhoff disease, adult form","Beta-hexosaminidase subunit beta deficiency, adult form","GM2 gangliosidosis, Sandhoff variant, adult form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, adult form"],[17721,"Sandhoff disease, infantile form","Beta-hexosaminidase subunit beta deficiency, infantile form","GM2 gangliosidosis, Sandhoff variant, infantile form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, infantile form"],[17722,"Sandhoff disease, juvenile form","Beta-hexosaminidase subunit beta deficiency, juvenile form","GM2 gangliosidosis, Sandhoff variant, juvenile form","GM2 gangliosidosis, hexosaminidase A and B deficiency variant, juvenile form"],[19104,"Sandifer syndrome"],[9655,"Sanfilippo syndrome type A","Heparan sulfamidase deficiency","MPS3A","MPSIIIA","Mucopolysaccharidosis type 3A","Mucopolysaccharidosis type IIIA"],[9656,"Sanfilippo syndrome type B","MPS3B","MPSIIIB","Mucopolysaccharidosis type 3B","Mucopolysaccharidosis type IIIB","N-acetyl-alpha-glucosaminidase deficiency"],[9657,"Sanfilippo syndrome type C","HGSNAT deficiency","Heparan-alpha-glucosaminide N-acetyltransferase deficiency","MPS3C","MPSIIIC","Mucopolysaccharidosis type 3C","Mucopolysaccharidosis type IIIC"],[9658,"Sanfilippo syndrome type D","GNS deficiency","Glucosamine N-acetyl-6-sulfatase deficiency","MPS3D","MPSIIID","Mucopolysaccharidosis type 3D","Mucopolysaccharidosis type IIID"],[9426,"Sanjad-Sakati syndrome","HRD syndrome","Hypoparathyroidism-intellectual disability-dysmorphism syndrome","Hypoparathyroidism-short stature-intellectual disability-seizures syndrome","Richardson-Kirk syndrome","SSS","hypoparathyroidism-retardation-dysmorphism syndrome"],[19266,"SAPHO syndrome","Synovitis-acne-pustulosis-hyperostosis-osteitis syndrome"],[18903,"Sarcocystosis","Sarcosporidiosis"],[100647,"sarcoid neuropathy"],[19338,"Sarcoidosis","Besnier-Boeck-Schaumann disease","Boeck sarcoid"],[5210,"Sarcoma of the corpus uteri","uterine corpus sarcoma"],[10008,"Sarcosinemia","Sarcosine dehydrogenase complex deficiency"],[100147,"SATB2-associated syndrome","SAS","SATB2 associated disorder"],[16653,"SATB2-associated syndrome due to a chromosomal rearrangement","2q33.1 microdeletion syndrome","Del(2)(q33.1)","Monosomy 2q33.1"],[10922,"Satoyoshi syndrome","Komuragaeri disease"],[9620,"Say-Barber-Miller syndrome","Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome"],[850096,"SBDS-related severe neonatal spondylometaphyseal dysplasia","SBDS-related severe neonatal SMD","Spondylometaphyseal dysplasia, Sedaghatian-like type"],[4525,"scabies"],[8403,"Scalp defects-postaxial polydactyly syndrome"],[18260,"SCALP syndrome","Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome","Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome"],[8404,"Scalp-ear-nipple syndrome"],[8408,"Scapuloperoneal spinal muscular atrophy","Neurogenic scapuloperoneal amyotrophy, New England type","SPSMA","Scapuloperoneal neuronopathy","scapuloperoneal spinal muscular atrophy, autosomal dominant"],[10728,"SCARF syndrome"],[5952,"Scarlet fever","Scarlatina"],[18668,"Scedosporiosis"],[14243,"Schaaf-Yang syndrome","SYS"],[11760,"Scheie syndrome","MPS1S","MPSIS","Mucopolysaccharidosis type 1S","Mucopolysaccharidosis type IS"],[8113,"Schilbach-Rott syndrome","BRSS","Hypotelorism-cleft palate-hypospadias syndrome"],[10085,"Schilder disease","Myelinoclastic diffuse sclerosis"],[9458,"Schimke immuno-osseous dysplasia","Schimke syndrome","Spondyloepiphyseal dysplasia-nephrotic syndrome"],[10010,"Schinzel-Giedion syndrome"],[18976,"Schisis association"],[15254,"Schistosomiasis","Bilharziasis"],[10011,"Schizencephaly"],[1161,"schizoid personality disorder"],[5090,"schizophrenia"],[1265,"schizophreniform disorder"],[1087,"schizotypal personality disorder"],[10013,"Schneckenbecken dysplasia","Chondrodysplasia with snail-like pelvis","SLC35D1-CDG"],[18304,"Schnitzler syndrome","Chronic urticaria with gammopathy","Chronic urticaria with macroglobulinemia"],[7374,"Schnyder corneal dystrophy"],[14006,"Schuurs-Hoeijmakers syndrome","PACS1-related NDD","PACS1-related neurodevelopmental disorder","PACS1-related syndrome"],[9717,"Schwartz-Jampel syndrome","Aberfeld syndrome","Burton skeletal dysplasia","Burton syndrome","Catel-Hempel syndrome","Dysostosis enchondralis metaepiphysaria, Catel-Hempel type","Myotonic chondrodystrophy","Myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies","Osteochondromuscular dystrophy","SJS","SJS1","Schwartz-Jampel syndrome type 1","Schwartz-Jampel-Aberfeld syndrome"],[9145,"Schöpf-Schulz-Passarge syndrome","Eccrine tumors-ectodermal dysplasia","Keratosis palmoplantaris-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar hyperkeratosis-cystic eyelids-hypodontia-hypotrichosis syndrome","Palmoplantar keratoderma-cystic eyelids-hypodontia-hypotrichosis syndrome","SSPS"],[24333,"sciatica"],[15987,"Scimitar syndrome","Congenital pulmonary venolobar syndrome","Epibronchial right pulmonary vein syndrome","Halasz syndrome","Hypogenetic lung syndrome"],[6606,"Scleredema","Buschke scleredema","scleredema adultorum"],[1718,"scleritis"],[1914,"scleromalacia perforans"],[15665,"Scleromyxedema","Arndt-Gottron disease","Generalized lichenoid papular eruption","Generalized papular and sclerodermoid lichen myxedematosus"],[19585,"Scleromyxedema without monoclonal gammopathy"],[1816,"scleroperikeratitis"],[1965,"sclerosing keratitis"],[15030,"Sclerosing perineurioma"],[17838,"Sclerosteosis","Cortical hyperostosis-syndactyly syndrome"],[5392,"scoliosis"],[18755,"Scorpion envenomation"],[4758,"scotoma"],[9885,"Scott syndrome"],[21112,"scrotum cancer"],[19365,"Scrub typhus","Tsutsugamushi disease","Tsutsugamushi fever"],[9412,"scurvy"],[8485,"Sebocystomatosis","Steatocystoma multiplex"],[12446,"Seborrhea-like dermatitis with psoriasiform elements"],[6608,"seborrheic dermatitis"],[6609,"seborrheic infantile dermatitis"],[8420,"seborrheic keratosis"],[19342,"Seckel syndrome"],[7233,"Second branchial cleft anomaly","Second branchial cleft cyst","Second branchial cleft fistula"],[467,"second-degree atrioventricular block"],[958355,"Secondary central precocious puberty in female","Secondary CPP in female","Secondary CPP in girl","Secondary central precocious puberty in girl"],[958357,"Secondary central precocious puberty in male","Secondary CPP in boy","Secondary CPP in male","Secondary central precocious puberty in boy"],[1181,"secondary corneal edema"],[20162,"Secondary ectropion","obsolete secondary ectropion"],[35149,"Secondary erythromelalgia","Secondary erythermalgia"],[17834,"Secondary hypereosinophilic syndrome","HES-R","Reactive hypereosinophilic syndrome","Secondary HES"],[1530,"secondary hyperparathyroidism of renal origin"],[15357,"Secondary hypoparathyroidism due to impaired parathormon secretion"],[19574,"Secondary intestinal lymphangiectasia"],[100006,"secondary mast cell activation syndrome"],[18376,"Secondary non-traumatic avascular necrosis","Secondary non-traumatic AVN","Secondary non-traumatic osteonecrosis"],[6966,"secondary Parkinson disease"],[18594,"Secondary polyarteritis nodosa","Secondary PAN","Secondary periarteritis nodosa"],[20115,"secondary polycythemia"],[18483,"Secondary pulmonary alveolar proteinosis","Secondary PAP"],[20553,"Secondary pulmonary hemosiderosis"],[18647,"Secondary sclerosing cholangitis"],[19802,"Secondary short bowel syndrome"],[20509,"Secondary syringomyelia"],[1457,"secondary vitreoretinal degeneration"],[957452,"Segmental arterial mediolysis"],[19029,"Segmental odontomaxillary dysplasia"],[15293,"Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome","SOLAMEN syndrome"],[17812,"Segmental progressive overgrowth syndrome with fibroadipose hyperplasia"],[958275,"Segmental spinal dysgenesis","SSD"],[16311,"Segmental venous malformation","Bockenheimer syndrome"],[9373,"Seizures-intellectual disability due to hydroxylysinuria syndrome"],[14731,"Seizures-scoliosis-macrocephaly syndrome","SSM syndrome"],[1901,"selective IgG subclass deficiency"],[18039,"Selective IgM deficiency","Selective immunoglobulin M deficiency"],[850015,"Selective intrauterine growth restriction","Selective fetal growth restriction","sFGR","sIUGR"],[19582,"Self-healing papular mucinosis"],[17267,"Self-improving collodion baby","SHCB","SICI","Self-healing collodion baby","Self-improving congenital ichthyosis"],[7548,"Self-improving dystrophic epidermolysis bullosa","Self-improving DEB","Transient bullous dermolysis of the newborn"],[20307,"Self-limited epilepsy with autonomic seizures","Benign childhood occipital epilepsy, Panayiotopoulos type","Early-onset benign childhood occipital epilepsy","Panayiotopoulos syndrome","SeLEAS"],[7295,"Self-limited epilepsy with centrotemporal spikes","BECRS","BECTS","BRE","Benign epilepsy of childhood with centrotemporal spikes","Benign familial epilepsy of childhood with rolandic spikes","Benign rolandic epilepsy","Centrotemporal epilepsy","Rolandic epilepsy","SeLECTS"],[17615,"Self-limited infantile epilepsy","benign familial infantile epilepsy"],[16027,"Self-limited neonatal epilepsy","benign neonatal seizures"],[11904,"Self-limited neonatal/infantile epilepsy","BFNIS","Benign familial neonatal-infantile seizures","Benign neonatal-infantile epilepsy","SeLFNIE","seizures, benign familial infantile, 3"],[10857,"Semantic dementia","Semantic primary progressive aphasia","Semantic variant PPA"],[18484,"Semicircular canal dehiscence syndrome","SCD syndrome"],[700419,"Semilobar holoprosencephaly"],[4847,"senile cataract"],[19394,"Senior-Boichis syndrome","Boichis disease","Nephronophthisis-hepatic fibrosis syndrome"],[17842,"Senior-Loken syndrome","Nephronophthisis with retinal dystrophy","Renal dysplasia-retinal aplasia syndrome","SLSN"],[11541,"Sensorineural deafness with dilated cardiomyopathy","Neurosensory deafness with dilated cardiomyopathy","Neurosensory hearing loss with dilated cardiomyopathy","Sensorineural hearing loss with dilated cardiomyopathy","dilated cardiomyopathy 1J"],[19022,"Sensorineural hearing loss-early graying-essential tremor syndrome","Sensorineural deafness-early graying-essential tremor syndrome"],[859206,"Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome","Neurodevelopmental disorder with hearing loss and spastic quadriplegia","Sensorineural deafness-spastic quadriplegia-intellectual disability syndrome","Sensorineural hearing loss-spastic tetraplegia-intellectual disability syndrome","neurodevelopmental disorder with hearing loss and spasticity"],[15848,"Septate vagina","obsolete septate vagina"],[5956,"septicemic plague"],[8428,"Septo-optic dysplasia spectrum","septooptic dysplasia"],[17218,"Septopreoptic holoprosencephaly","Septopreoptic HPE","obsolete septopreoptic holoprosencephaly"],[35004,"Serine biosynthesis pathway deficiency, infantile/juvenile form"],[12734,"SERKAL syndrome","Sex reversion-kidneys, adrenal and lung dysgenesis syndrome"],[35405,"Seromucinous cystadenoma of childhood","Seromucinous cystadenoma of ovary in childhood"],[35400,"Seronegative autoimmune hepatitis","Autoantibody-negative autoimmune hepatitis","Seronegative AIH"],[18546,"Serotonin syndrome","Serotonergic syndrome","Serotonin storm","Serotonin toxicity","Serotonin toxidrome"],[24504,"Serotonin-producing neuroendocrine tumor of pancreas","Serotonin-producing PNET","Serotonin-producing pancreatic NET","Serotonin-producing pancreatic neuroendocrine tumor","enterochromaffin cell serotonin-producing pancreatic neuroendocrine tumor"],[16268,"Serous carcinoma of the corpus uteri","Endometrial serous carcinoma","papillary carcinoma of the corpus uteri"],[1219,"serous conjunctivitis except viral"],[3630,"Serous cystadenocarcinoma of pancreas","Pancreatic serous cystadenocarcinoma"],[35403,"Serous cystadenoma of childhood","Serous cystadenoma of ovary in childhood"],[1213,"serous glue ear"],[18152,"Serpiginous choroiditis","Geographic helicoid peripapillary choroidopathy"],[15524,"Serrated polyposis syndrome","Hyperplastic polyposis syndrome"],[35706,"SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome"],[14658,"Severe achondroplasia-developmental delay-acanthosis nigricans syndrome","SADDAN"],[5091,"Severe acute respiratory syndrome","SARS","SARS-1"],[14518,"Severe autosomal recessive macrothrombocytopenia","platelet-type bleeding disorder 19"],[17830,"Severe Canavan disease","Infantile Canavan disease","Neonatal Canavan disease"],[14094,"Severe congenital hypochromic anemia with ringed sideroblasts","Severe congenital hypochromic sideroblastic anemia"],[15735,"Severe congenital nemaline myopathy"],[12930,"Severe congenital neutropenia due to G6PC3 deficiency","SCN due to G6PC3 deficiency","SCN4","Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency","Severe congenital neutropenia type 4","Severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome","autosomal recessive severe congenital neutropenia due to G6PC3 deficiency"],[14456,"Severe congenital neutropenia due to JAGN1 deficiency","SCN due to JAGN1 deficiency","Severe congenital neutropenia due to jagunal homolog 1 deficiency","autosomal recessive severe congenital neutropenia due to JAGN1 deficiency"],[14218,"Severe dermatitis-multiple allergies-metabolic wasting syndrome","Congenital erythroderma-hypotrichosis-recurrent infections-multiple food allergies syndrome","SAM syndrome"],[18108,"Severe disseminated cytomegalovirus infection in immunocompetent patients","Severe disseminated CMV infection in immunocompetent patients","idiopathic disseminated cytomegalovirus infection"],[9549,"Severe early-childhood-onset retinal dystrophy","EOSRD","Early-onset severe retinal dystrophy","SECORD"],[19549,"Severe early-onset axonal neuropathy due to MFN2 deficiency","AR-CMT2, Ouvrier type","Autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type","SEOAN due to MFN2 deficiency"],[17994,"Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency"],[14206,"Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency","Hereditary pulmonary alveolar proteinosis with hepatic involvement","Interstitial lung and liver disease","PAP, Reunion island type","Pulmonary alveolar proteinosis, Reunion island type"],[9182,"Severe generalized junctional epidermolysis bullosa","Epidermolysis bullosa letalis","JEB-H","Junctional epidermolysis bullosa generalisata gravis","Junctional epidermolysis bullosa, Herlitz type","Junctional epidermolysis bullosa, Herlitz-Pearson type","Severe generalized JEB","junctional epidermolysis bullosa Herlitz type"],[14886,"Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome"],[15719,"Severe hemophilia A","Severe congenital F8 deficiency","Severe congenital factor VIII deficiency"],[15715,"Severe hemophilia B","Severe congenital F9 deficiency","Severe congenital factor IX deficiency"],[19145,"Severe hereditary thrombophilia due to congenital protein C deficiency","Autosomal recessive thrombophilia due to PC deficiency","Autosomal recessive thrombophilia due to congenital protein C deficiency","hereditary thrombophilia due to congenital protein C deficiency"],[19144,"Severe hereditary thrombophilia due to congenital protein S deficiency","Autosomal recessive thrombophilia due to congenital protein S deficiency","hereditary thrombophilia due to congenital protein S deficiency"],[14784,"Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome"],[100176,"Severe intellectual disability and progressive spastic paraplegia","AP-4 associated hereditary spastic paraplegia","AP4 deficiency syndrome","AP-4 deficiency syndrome"],[14787,"Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome"],[19786,"Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia"],[14034,"Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome"],[10656,"Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome","IQSEC2-related syndromic intellectual disability","intellectual disability, X-linked 1"],[14238,"Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome"],[17927,"Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome","severe lateral tibial bowing with short stature"],[33541,"Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency","Severe MSMD due to complete IFNG deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon gamma deficiency","immunodeficiency 69"],[958011,"Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency","Severe MSMD due to complete IRF1 deficiency","Severe mendelian susceptibility to mycobacterial diseases due to complete interferon regulatory factor 1 deficiency","immunodeficiency 117"],[15252,"Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome"],[10334,"Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome","Severe motor and intellectual disabilities-sensorineural hearing loss-dystonia syndrome"],[60556,"Severe myopia-generalized joint laxity-short stature syndrome","joint laxity, short stature, and myopia"],[17811,"Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion","5q31.3 microdeletion syndrome","Del(5)(q31.3)","Monosomy 5q31.3"],[700371,"Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency"],[44306,"Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract","neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination"],[9772,"Severe oculo-renal-cerebellar syndrome","Hunter-Jurenka-Thompson syndrome","ORC syndrome","Oculorenocerebellar syndrome"],[18464,"Severe phosphoribosylpyrophosphate synthetase superactivity","Severe PRPP synthetase superactivity","Severe PRPS1 superactivity"],[1641,"severe pre-eclampsia"],[18767,"Severe primary trimethylaminuria","TMAU"],[10661,"Severe X-linked intellectual disability, Gustavson type","Gustavson syndrome"],[10437,"Severe X-linked mitochondrial encephalomyopathy","Mitochondrial encephalomyopathy due to COXPD6","Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6"],[3125,"Sex cord-stromal tumor of testis","Testicular sex cord-stromal tumor","testicular sex cord-stromal neoplasm"],[1139,"sexual masochism disorder"],[1132,"sexual sadism disorder"],[21681,"sexually transmitted disease"],[14963,"Shashi-Pena syndrome"],[19618,"Sheehan syndrome"],[11128,"Sheldon-Hall syndrome","DA2B","Distal arthrogryposis multiplex congenita type 2B","Distal arthrogryposis type 2B","Freeman-Sheldon syndrome variant","SSH"],[19536,"Shiga toxin-associated hemolytic uremic syndrome","D+ HUS","EHEC-HUS","Hemolytic uremic syndrome associated with Shiga toxin-producing Escherichia coli","Hemolytic uremic syndrome with diarrhea","STEC-HUS","Shiga-like toxin-associated HUS","Stx-HUS","Typical HUS","Typical hemolytic uremic syndrome"],[19345,"Shigellosis"],[20404,"Shone complex"],[8722,"Short chain acyl-CoA dehydrogenase deficiency","ACADS deficiency","SCAD deficiency","SCADD"],[19017,"Short fifth metacarpals-insulin resistance syndrome"],[13569,"Short rib-polydactyly syndrome type 5","short-rib thoracic dysplasia 7 with or without polydactyly"],[10024,"Short rib-polydactyly syndrome, Beemer-Langer type","Short rib-polydactyly syndrome type 4","Beemer-Langer syndrome"],[19662,"Short rib-polydactyly syndrome, Majewski type","Short rib-polydactyly syndrome type 2"],[13127,"Short rib-polydactyly syndrome, Saldino-Noonan type","Short rib-polydactyly syndrome type 1","asphyxiating thoracic dystrophy 3"],[14403,"Short stature due to GHSR deficiency","Ghrelin receptor deficiency","Short stature due to growth hormone secretagogue receptor deficiency"],[9879,"Short stature due to growth hormone qualitative anomaly","Kowarski syndrome"],[18967,"Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia"],[11420,"Short stature due to partial GHR deficiency","Short stature due to partial growth hormone receptor deficiency"],[14420,"Short stature due to primary acid-labile subunit deficiency"],[11046,"Short stature, Brussels type","Mievis-Verellen-Dumoulin syndrome"],[18566,"Short stature-advanced bone age-early-onset osteoarthritis syndrome"],[11227,"Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome","SAMS syndrome"],[14944,"Short stature-brachydactyly-obesity-global developmental delay syndrome","SBIDDS"],[8335,"Short stature-craniofacial anomalies-genital hypoplasia syndrome","Haspeslagh-Fryns-Muelenaere syndrome"],[17316,"Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome","Short stature-hearing loss-neutrophil dysfunction-dysmorphism syndrome","Thong-Douglas-Ferrante syndrome"],[800046,"Short stature-delayed bone age due to thyroid hormone metabolism deficiency","thyroid hormone metabolism, abnormal 1"],[13894,"Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome","SOFT syndrome"],[13889,"Short stature-optic atrophy-Pelger-Huët anomaly syndrome","SOPH syndrome"],[9880,"Short stature-pituitary and cerebellar defects-small sella turcica syndrome"],[30045,"Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome","Liberfarb syndrome"],[7461,"Short stature-valvular heart disease-characteristic facies syndrome"],[17315,"Short stature-webbed neck-heart disease syndrome","Al Gazali-Aziz-Salem syndrome"],[8499,"Short stature-wormian bones-dextrocardia syndrome","Stratton-Parker syndrome"],[10026,"SHORT syndrome","Lipodystrophy-Rieger anomaly-diabetes syndrome","Rieger anomaly-partial lipodystrophy syndrome"],[10855,"Short tarsus-absence of lower eyelashes syndrome","Lopes-Gorlin syndrome"],[14067,"Short ulna-dysmorphism-hypotonia-intellectual disability syndrome"],[8704,"Short-limb skeletal dysplasia with severe combined immunodeficiency","Achondroplasia-SCID syndrome","Achondroplasia-Swiss type agammaglobulinemia syndrome","Achondroplasia-severe combined immunodeficiency syndrome","Immunodeficiency-short limb dwarfism syndrome","Short limb skeletal dysplasia with SCID"],[6968,"shoulder impingement syndrome"],[10367,"SHOX-related short stature"],[8426,"Shprintzen-Goldberg syndrome"],[9833,"Shwachman-Diamond syndrome","Pancreatic insufficiency and bone marrow dysfunction","SDS","Shwachman syndrome","Shwachman-Bodian-Diamond syndrome"],[6969,"sialadenitis"],[19346,"Sialidosis type 1","Cherry-red spot-myoclonus syndrome","Lipomucopolysaccharidosis","Normomorphic sialidosis"],[9738,"Sialidosis type 2","Infantile dysmorphic sialidosis"],[6970,"sialolithiasis"],[10028,"Sialuria","Sialuria, French type"],[1154,"Siberian tick typhus"],[1823,"sick sinus syndrome"],[11382,"Sickle cell anemia","Homozygous hemoglobin S","Homozygous sickle cell anemia SS","sickle cell disease"],[17146,"Sickle cell disease","obsolete sickle cell disease and related diseases"],[979354,"Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant","Sickle cell disease due to HbS and a non-HbS/non-HbC variant"],[16669,"Sickle cell S-C disease","HbSC disease","Hemoglobin S-C disease","Sickle cell-hemoglobin C disease","sickle cell-hemoglobin c disease syndrome"],[16670,"Sickle cell S-D Punjab disease","HbSD disease","Hemoglobin S-D Punjab disease","Sickle cell-hemoglobin D disease","sickle cell-hemoglobin d disease syndrome"],[16671,"Sickle cell S-E disease","HbSE disease","Hemoglobin S-E disease","Sickle cell-hemoglobin E disease","sickle cell-hemoglobin E disease syndrome"],[979287,"Sickle cell-beta plus-thalassemia","HbS-beta plus-thalassemia","HbS-beta+ thalassemia"],[979286,"Sickle cell-beta zero-thalassemia","HbS-beta zero-thalassemia","HbS-beta0 thalassemia"],[16668,"Sickle cell-beta-thalassemia disease","HbS-beta-thalassemia syndrome","sickle cell-beta-thalassemia disease syndrome"],[17849,"Siegler-Brewer-Carey syndrome"],[1464,"sigmoid colon cancer"],[17825,"Silent pituitary adenoma"],[19108,"Silent sinus syndrome","CMA grade 3","Chronic maxillary atelectasis grade III","Imploding antrum syndrome"],[7227,"Sillence syndrome"],[8394,"Silver-Russell syndrome","Silver-Russell dwarfism"],[16481,"Silver-Russell syndrome due to 11p15 microduplication"],[16479,"Silver-Russell syndrome due to 7p11.2p13 microduplication","Silver-Russell syndrome due to 7p11.2-p13 microduplication","Silver-Russell syndrome due to dup(7)(p11.2p13)","Silver-Russell syndrome due to trisomy 7p11.2-p13","Silver-Russell syndrome due to trisomy 7p11.2p13"],[18336,"Silver-Russell syndrome due to a point mutation","obsolete Silver-Russell syndrome due to a point mutation"],[16480,"Silver-Russell syndrome due to an imprinting defect of 11p15"],[16482,"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11","UPD(11)mat"],[19913,"Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7","UPD(7)mat"],[18355,"SIM1-related Prader-Willi-like syndrome","SIM1-related PWLS"],[4811,"simple chronic conjunctivitis"],[19606,"Simple cryoglobulinemia","Cryoglobulinemia type 1"],[10731,"Simpson-Golabi-Behmel syndrome","DGSX","Golabi-Rosen syndrome","SDYS","SGBS","SGBS1","Simpson dysmorphia syndrome","Simpson-Golabi-Behmel syndrome type 1","X-linked dysplasia gigantism syndrome"],[44700,"SIN3-related intellectual disability syndrome due to a point mutation","SIN3A-related intellectual disability syndrome due to a point mutation"],[19970,"Sinding-Larsen-Johansson disease","Aseptic necrosis of patella","Osteochondrosis of patella"],[18595,"Single-organ polyarteritis nodosa","Single-organ PAN","Single-organ periarteritis nodosa"],[975908,"Single-system multifocal Langerhans cell histiocytosis","Single-system multifocal Langerhans cell granulomatosis","Single-system multifocal histiocytosis X"],[8429,"Singleton-Merten dysplasia","Singleton-Merten syndrome"],[13960,"Sinoatrial node dysfunction and deafness","Sinoatrial node dysfunction and hearing loss"],[17850,"Sirenomelia"],[8863,"Sitosterolemia"],[10029,"Situs inversus totalis","Complete situs inversus","Complete situs inversus viscerum","Situs inversus"],[44628,"SIX2-related frontonasal dysplasia","SIX2-related FND"],[10031,"Sjögren-Larsson syndrome","Fatty acid alcohol oxidoreductase deficiency","Sjogren-Larsson syndrome"],[11011,"Skeletal dysplasia-epilepsy-short stature syndrome","Gurrieri-Sammito-Bellussi syndrome"],[33682,"Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome","EXTL3-related neuro-immuno-skeletal dysplasia syndrome","Neuro-immuno-skeletal dysplasia syndrome due to EXTL3 deficiency"],[12817,"Skeletal Ewing sarcoma","Osseous Ewing sarcoma","Ewing sarcoma"],[400003,"skeletal fluorosis"],[24481,"skin appendage disorder"],[2898,"skin cancer"],[4641,"skin carcinoma in situ"],[11882,"Skin fragility-woolly hair-palmoplantar keratoderma syndrome","Skin fragility-woolly hair-palmoplantar hyperkeratosis syndrome"],[6611,"skin sarcoidosis"],[33667,"SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome","Delpire-McNeill syndrome"],[33664,"SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome","Kilquist syndrome"],[859000,"SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome"],[11342,"SLC35A1-CDG","CMP-sialic acid transporter deficiency","Carbohydrate deficient glycoprotein syndrome type IIf","Congenital disorder of glycosylation type 2f","Congenital disorder of glycosylation type IIf","CDG syndrome type IIf","CDG-IIf","CDG2F","SLC35A1-congenital disorder of glycosylation"],[10478,"SLC35A2-CDG","CDG-IIm","CDG2M","Congenital disorder of glycosylation type 2m","Congenital disorder of glycosylation type IIm","CDG syndrome type IIm","SLC35A2-congenital disorder of glycosylation"],[12873,"SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome","SCD-EDS","SLC39A13-related spEDS","SLC39A13-related spondylodysplastic EDS","Spondylocheirodysplastic Ehlers-Danlos syndrome","spEDS-SLC39A13","Ehlers-Danlos syndrome, spondylodysplastic type, 3"],[14746,"SLC39A8-CDG","CDG syndrome type IIn","CDG-IIn","CDG2N","Carbohydrate deficient glycoprotein syndrome type IIn","Congenital disorder of glycosylation type 2n","Congenital disorder of glycosylation type IIn","SLC39A8 deficiency"],[11631,"SLC40A1-related hemochromatosis","hemochromatosis type 4"],[5296,"sleep apnea syndrome"],[30,"Sleep-related hypermotor epilepsy","ADNFLE","Autosomal dominant nocturnal frontal lobe epilepsy","Autosomal dominant sleep-related hypermotor epilepsy","SHE","familial sleep-related hypermotor epilepsy"],[3406,"sleep-wake disorder"],[9476,"Small bowel atresia","Atresia of small bowel","Atresia of small intestine","Jejunal atresia","Jejunoileal atresia","SBA","Small intestinal atresia"],[4114,"Small cell carcinoma of the bladder","Poorly differentiated neuroendocrine carcinoma of the bladder","SCCB","Small cell bladder cancer","Small cell bladder carcinoma","Small cell carcinoma of the urinary bladder","urinary bladder small cell neuroendocrine carcinoma"],[3795,"Small cell carcinoma of the ovary","SCCO","Small cell ovarian carcinoma","ovarian small cell carcinoma"],[8433,"Small cell lung cancer","SCLC","small cell lung carcinoma"],[956,"small intestine cancer"],[4651,"smallpox"],[859139,"SMARCA2-related blepharophimosis-intellectual disability syndrome","blepharophimosis-impaired intellectual development syndrome"],[18761,"SMARCA4-deficient sarcoma of thorax","SMARCA4-deficient thoracic sarcoma"],[10035,"Smith-Lemli-Opitz syndrome","7-dehydrocholesterol reductase deficiency","RSH syndrome","SLOS"],[8434,"Smith-Magenis syndrome","17p11.2 microdeletion syndrome"],[15799,"Smith-McCort dysplasia"],[15557,"Smoldering systemic mastocytosis","Smouldering systemic mastocytosis"],[24771,"SMPX-related distal myopathy","myopathy, distal, 7, adult-onset, X-linked"],[18669,"Snakebite envenomation"],[8436,"Sneddon syndrome","Ehrmann-Sneddon syndrome","Livedo racemosa-cerebrovascular accident syndrome","Livedo reticularis-cerebrovascular accident syndrome"],[8663,"Snowflake vitreoretinal degeneration"],[1247,"social phobia"],[33546,"Sodium-dependent multivitamin transporter deficiency","neurodegeneration, infantile-onset, biotin-responsive"],[971092,"Soft and hard cleft palate","Combined form of soft and hard cleft palate","Isolated cleft of the soft and hard palate"],[4611,"soft palate cancer"],[19945,"Solar urticaria"],[19372,"Solitary bone cyst","Juvenile bone cyst"],[1009,"solitary cyst of breast"],[16238,"Solitary fibrous tumor","SFT"],[15049,"Solitary necrotic nodule of the liver","Hepatic solitary necrotic nodule"],[16208,"Solitary rectal ulcer syndrome"],[1830,"somatization disorder"],[17823,"Somatomammotropinoma","GH and PRL cosecreting pituitary adenoma","Growth hormone and prolactin cosecreting pituitary adenoma","Somatolactotropinoma","Somatoprolactinoma"],[6976,"Somatostatinoma"],[7640,"Sorsby fundus dystrophy","SMD","Sorsby macular dystrophy","Sorsby pseudoinflammatory fundus dystrophy"],[7353,"Sorsby syndrome","Coloboma of macula-brachydactyly type B syndrome"],[19349,"Sotos syndrome"],[8165,"Southeast Asian ovalocytosis","Hereditary ovalocytosis","Melanesian elliptocytosis","Melanesian ovalocytosis","SAO","Stomatocytic elliptocytosis"],[5963,"sparganosis"],[17201,"Spasmus nutans"],[7165,"Spastic ataxia with congenital miosis","Autosomal dominant spastic ataxia type 7","SPAX7","spastic ataxia 7"],[10064,"Spastic ataxia-corneal dystrophy syndrome","Bedouin spastic ataxia syndrome","Mousa-Al Din-Al Nassar syndrome","Spastic ataxia-ocular anomalies syndrome"],[34146,"Spastic ataxia-dysarthria due to glutaminase deficiency"],[1168,"spastic hemiplegia"],[36212,"Spastic paraparesis-cataracts-speech delay syndrome","Fatty acyl-CoA reductase 1 superactivity"],[10732,"Spastic paraparesis-deafness syndrome","Spastic paraparesis-hearing loss syndrome","Wells-Jankovic syndrome"],[10733,"Spastic paraplegia type 2","SPG2","Spastic gait type 2","Spastic paraparesis type 2","X-linked spastic paraplegia type 2","hereditary spastic paraplegia 2"],[11803,"Spastic paraplegia type 7","SPG7","hereditary spastic paraplegia 7"],[17275,"Spastic paraplegia-facial-cutaneous lesions syndrome","Bahemuka-Brown syndrome"],[10049,"Spastic paraplegia-glaucoma-intellectual disability syndrome"],[15007,"Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome","SINO syndrome","spastic paraplegia, intellectual disability, nystagmus, and obesity"],[8440,"Spastic paraplegia-nephritis-deafness syndrome","Fitzsimmons-Walson-Mellor syndrome","Spastic paraplegia-nephritis-hearing loss syndrome"],[8442,"Spastic paraplegia-neuropathy-poikiloderma syndrome","Antinolo-Nieto-Borrego syndrome"],[12297,"Spastic paraplegia-optic atrophy-neuropathy syndrome","spastic paraplegia, optic atropy, and neuropathy"],[18005,"Spastic paraplegia-Paget disease of bone syndrome"],[8443,"Spastic paraplegia-precocious puberty syndrome"],[14764,"Spastic paraplegia-severe developmental delay-epilepsy syndrome","SPPRS syndrome","Spastic paraplegia-psychomotor retardation-seizures syndrome"],[10051,"Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome","Spastic quadriplegia-retinitis pigmentosa-intellectual disability syndrome"],[14725,"Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome","ASCT1 deficiency","Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome"],[800025,"SPECC1L-related hypertelorism syndrome","Brachycephalofrontonasal dysplasia","Teebi hypertelorism syndrome","Teebi hypertelorism syndrome 1"],[14159,"Spectrin-associated autosomal recessive cerebellar ataxia","Autosomal recessive spinocerebellar ataxia type 14","Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome","SCAR14","SPARCA","SPARCA1","Spectrin-associated autosomal recessive cerebellar ataxia type 1","autosomal recessive spinocerebellar ataxia 14"],[1654,"spermatic cord cancer"],[8541,"spermatic cord torsion"],[6977,"spermatocele"],[20513,"Spermatocytic seminoma"],[1994,"sphenoidal sinus cancer"],[12215,"Spheroid body myopathy","myofibrillar myopathy 3"],[17798,"Spigelian hernia-cryptorchidism syndrome"],[8449,"spina bifida"],[17857,"Spina bifida-hypospadias syndrome"],[18893,"Spinal arteriovenous metameric syndrome","Cobb syndrome","Cutaneomeningospinal angiomatosis","SAMS 1-31"],[15250,"Spinal atrophy-ophthalmoplegia-pyramidal syndrome","Hamano-Tsukamoto syndrome"],[3544,"spinal cord cancer"],[43797,"Spinal cord injury"],[958344,"Spinal dermal sinus","Dermal sinus tract"],[4151,"spinal meninges cancer"],[11436,"Spinal muscular atrophy with respiratory distress type 1","Autosomal recessive distal spinal muscular atrophy type 1","Autosomal recessive spinal muscular atrophy with respiratory distress","Diaphragmatic spinal muscular atrophy","Distal hereditary motor neuropathy type 6","Distal-HMN type 6","SIANRF","SMARD1","Severe infantile axonal neuropathy with respiratory failure type 1","dHMN6","dSMA1","autosomal recessive distal spinal muscular atrophy 1"],[18450,"Spinal muscular atrophy with respiratory distress type 2","Diaphragmatic spinal muscular atrophy type 2","SMARD2","Severe infantile axonal neuropathy with respiratory failure type 2","X-linked spinal muscular atrophy with respiratory distress"],[19132,"Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome"],[8045,"Spinal muscular atrophy-progressive myoclonic epilepsy syndrome","Hereditary myoclonus-progressive distal muscular atrophy syndrome","Jankovic-Rivera syndrome","SMA-PME"],[5965,"spinal stenosis"],[16222,"Spindle cell hemangioma","Spindle cell haemangioma","Spindle cell hemangioendothelioma"],[8119,"Spinocerebellar ataxia type 1","SCA1"],[11330,"Spinocerebellar ataxia type 10","SCA10"],[11464,"Spinocerebellar ataxia type 11","SCA11"],[11439,"Spinocerebellar ataxia type 12","SCA12"],[11529,"Spinocerebellar ataxia type 13","SCA13"],[11540,"Spinocerebellar ataxia type 14","SCA14"],[11694,"Spinocerebellar ataxia type 15/16","SCA15/16"],[11781,"Spinocerebellar ataxia type 17","HDL4","Huntington disease-like 4","SCA17"],[11834,"Spinocerebellar ataxia type 18","SCA18"],[11819,"Spinocerebellar ataxia type 19/22"],[8458,"Spinocerebellar ataxia type 2","SCA2"],[12098,"Spinocerebellar ataxia type 20","SCA20"],[11833,"Spinocerebellar ataxia type 21","SCA21"],[12449,"Spinocerebellar ataxia type 23","SCA23"],[12103,"Spinocerebellar ataxia type 25","SCA25"],[12246,"Spinocerebellar ataxia type 26","SCA26"],[12247,"Spinocerebellar ataxia type 27A","SCA27A","spinocerebellar ataxia type 27"],[859340,"Spinocerebellar ataxia type 27B","spinocerebellar ataxia 27B, late-onset"],[12450,"Spinocerebellar ataxia type 28","SCA28"],[7298,"Spinocerebellar ataxia type 29","Congenital nonprogressive spinocerebellar ataxia","SCA29"],[7182,"Spinocerebellar ataxia type 3","Azorean disease of the nervous system","MJD","Machado disease","Machado-Joseph disease","Nigro-spino-dentatal degeneration with nuclear ophthalmoplegia","SCA3"],[13241,"Spinocerebellar ataxia type 30","SCA30"],[7296,"Spinocerebellar ataxia type 31","SCA31"],[13486,"Spinocerebellar ataxia type 32","Cerebellar ataxia with azoospermia and intellectual disability","SCA32"],[7574,"Spinocerebellar ataxia type 34","Erythrokeratodermia with ataxia","SCA34","Spinocerebellar ataxia and erythrokeratodermia"],[13485,"Spinocerebellar ataxia type 35","SCA35"],[13594,"Spinocerebellar ataxia type 36","Asidan","SCA36"],[14410,"Spinocerebellar ataxia type 37","SCA37","Spinocerebellar ataxia with altered vertical eye movements"],[14417,"Spinocerebellar ataxia type 38","SCA38"],[10847,"Spinocerebellar ataxia type 4","SCA4"],[14475,"Spinocerebellar ataxia type 40","SCA40"],[14626,"Spinocerebellar ataxia type 41","SCA41"],[14776,"Spinocerebellar ataxia type 42","SCA42"],[14867,"Spinocerebellar ataxia type 43","SCA43","spinocerebellar ataxia 43"],[33479,"Spinocerebellar ataxia type 44","spinocerebellar ataxia 44"],[33480,"Spinocerebellar ataxia type 45","SCA45","spinocerebellar ataxia 45"],[33481,"Spinocerebellar ataxia type 46","SCA46","spinocerebellar ataxia 46"],[32526,"Spinocerebellar ataxia type 48","spinocerebellar ataxia 48"],[30805,"Spinocerebellar ataxia type 49","spinocerebellar ataxia 49"],[10848,"Spinocerebellar ataxia type 5","SCA5"],[8457,"Spinocerebellar ataxia type 6","SCA6"],[16163,"Spinocerebellar ataxia type 7","Ataxia with pigmentary retinopathy","Cerebellar syndrome-pigmentary maculopathy syndrome","SCA7","spinocerebellar ataxia 7"],[12116,"Spinocerebellar ataxia type 8","SCA8"],[11801,"Spinocerebellar ataxia with axonal neuropathy type 1","SCAN1","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1"],[18996,"Spinocerebellar ataxia with axonal neuropathy type 2","AOA2","Ataxia-oculomotor apraxia type 2","SCAN 2","SCAR1","spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2"],[16809,"Spinocerebellar ataxia with epilepsy","MSCAE","Mitochondrial spinocerebellar ataxia with epilepsy","SCAE"],[10062,"Spinocerebellar ataxia-dysmorphism syndrome"],[10063,"Spinocerebellar degeneration-corneal dystrophy syndrome","Der Kaloustian-Jarudi-Khoury syndrome","corneal-cerebellar syndrome"],[20532,"Spirillary rat-bite fever","Sodoku"],[5966,"spleen cancer"],[2333,"splenic abscess"],[17599,"Splenic diffuse red pulp small B-cell lymphoma","SDRPL","Splenic diffuse red pulp lymphoma"],[2332,"splenic disorder"],[1463,"splenic flexure cancer"],[6978,"splenic infarction"],[19462,"Splenic marginal zone lymphoma","SMZL"],[975910,"Splenic venous malformation","Splenic cavernous malformation","Splenic slow-flow venous malformation","Venous malformation of the spleen"],[8460,"Splenogonadal fusion-limb defects-micrognathia syndrome","SGFLD syndrome"],[9106,"Split cord malformation","SCM","diastematomyelia"],[1060220,"Split cord malformation type I","Diastematomyelia","SCM type 1","SCM type I","Split cord malformation type 1"],[1060221,"Split cord malformation type II","Diplomyelia","SCM type 2","SCM type II","Split cord malformation type 2"],[1060222,"Split cord malformation, composite type","Split cord malformation type 1.5","Split cord malformation, intermediate type","Split cord malformation, mixed type"],[17450,"split foot"],[17514,"split foot, bilateral"],[9080,"Split hand-split foot-deafness syndrome","Split hand-split foot-hearing loss syndrome","split hand-foot malformation 1 with sensorineural hearing loss"],[14816,"Split-foot malformation-mesoaxial polydactyly syndrome","SFMMP","Split-foot malformation-mesoaxial polydactyly-nail abnormalities-sensorineural hearing loss syndrome"],[10068,"SPONASTRIME dysplasia","Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia","Spondyloepimetaphyseal dysplasia, Sponastrime type"],[13228,"Spondylo-megaepiphyseal-metaphyseal dysplasia"],[11604,"Spondylo-ocular syndrome"],[10801,"Spondylocamptodactyly syndrome"],[10094,"Spondylocarpotarsal synostosis","Synspondylism","spondylocarpotarsal synostosis syndrome"],[7526,"Spondylodysplastic Ehlers-Danlos syndrome","Spondylodysplastic EDS","spEDS","Ehlers-Danlos syndrome, spondylodysplastic type"],[11939,"Spondyloenchondrodysplasia","Spondyloenchondrodysplasia with immune dysregulation"],[8476,"Spondyloepimetaphyseal dysplasia congenita, Strudwick type","spondyloepimetaphyseal dysplasia, Strudwick type"],[10075,"Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type","SEMD-JL1","SEMDJL1","Spondyloepimetaphyseal dysplasia with joint laxity type 1","spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures"],[11335,"Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type","SEMD-MD","SEMDJL2","Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type","Spondyloepimetaphyseal dysplasia with joint laxity type 2","Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type","spondyloepimetaphyseal dysplasia with multiple dislocations"],[13014,"Spondyloepimetaphyseal dysplasia, aggrecan type","SEMD, aggrecan type"],[13233,"Spondyloepimetaphyseal dysplasia, Handigodu type"],[10076,"Spondyloepimetaphyseal dysplasia, Irapa type","SEMD, Irapa type"],[18254,"Spondyloepimetaphyseal dysplasia, Isidor-Toutain type","spondyloepimetaphyseal dysplasia, Isidor type"],[8473,"Spondyloepimetaphyseal dysplasia, Maroteaux type","Pseudo-Morquio syndrome type 2","Pseudo-Morquio type II syndrome","SEMD, Maroteaux type","SEMD-M"],[12108,"Spondyloepimetaphyseal dysplasia, matrilin-3 type","SEMD, MATN3-related","SEMD, matrilin-3 type"],[11198,"Spondyloepimetaphyseal dysplasia, Missouri type","SEMD type 2","SEMD, Missouri type","Spondyloepimetaphyseal dysplasia type 2"],[19666,"Spondyloepimetaphyseal dysplasia, PAPSS2 type","Spondyloepimetaphyseal dysplasia, Pakistani type"],[11252,"Spondyloepimetaphyseal dysplasia, Shohat type","SEMD, Shohat type"],[11124,"Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome","SEMDAD"],[8469,"Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome"],[10077,"Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome"],[16761,"spondyloepiphyseal dysplasia"],[8471,"Spondyloepiphyseal dysplasia congenita","Congenital spondyloepiphyseal dysplasia","SEDC","Spranger-Wiedemann disease"],[19667,"Spondyloepiphyseal dysplasia tarda"],[10073,"Spondyloepiphyseal dysplasia tarda, Kohn type"],[12206,"Spondyloepiphyseal dysplasia with metatarsal shortening","Czech dysplasia, metatarsal type","SED with metatarsal shortening"],[12019,"Spondyloepiphyseal dysplasia, Kimberley type"],[8472,"Spondyloepiphyseal dysplasia, MacDermot type","Spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome","Spondyloepiphyseal dysplasia-myopia-sensorineural hearing loss syndrome"],[10902,"Spondyloepiphyseal dysplasia, Reardon type"],[14701,"Spondyloepiphyseal dysplasia, Stanescu type","SED, Stanescu type"],[12716,"Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome","SED-BDS","Spondyloepiphyseal dysplasia, Cantu type","Tattoo dysplasia"],[11261,"Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome","Spondyloepiphyseal dysplasia, Nishimura type","spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability"],[31007,"Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome","SHILCA syndrome","spondyloepiphyseal dysplasia, sensorineural hearing loss, impaired intellectual development, and leber congenital amaurosis"],[8475,"spondylolisthesis"],[5541,"spondylolysis"],[8479,"Spondylometaphyseal dysplasia, 'corner fracture' type","Spondylometaphyseal dysplasia, Sutcliffe type"],[12185,"Spondylometaphyseal dysplasia, A4 type"],[10738,"Spondylometaphyseal dysplasia, Golden type","X-linked spondylometaphyseal dysplasia"],[8477,"Spondylometaphyseal dysplasia, Kozlowski type"],[8478,"Spondylometaphyseal dysplasia, Schmidt type","Spondylometaphyseal dysplasia with severe genu valgum","Spondylometaphyseal dysplasia, Algerian type"],[9593,"Spondylometaphyseal dysplasia, Sedaghatian type"],[11856,"Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome"],[12160,"Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome","SMD-CRD"],[30074,"Spondylometaphyseal dysplasia-corneal dystrophy syndrome","SMD-corneal dystrophy syndrome","spondylometaphyseal dysplasia with corneal dystrophy"],[10078,"Spondyloperipheral dysplasia-short ulna syndrome","spondyloperipheral dysplasia"],[2253,"spondylosis"],[957460,"Spontaneous intestinal perforation","FIP","Focal intestinal perforation","Isolated perforation","Neonatal focal intestinal perforation","SIP"],[18624,"Spontaneous intracranial hypotension","Spontaneous cerebrospinal fluid leak"],[1361,"spontaneous ocular nystagmus"],[17577,"Spontaneous periodic hypothermia","Episodic spontaneous hypothermia","Shapiro syndrome"],[2075,"spontaneous tension pneumothorax"],[16591,"Sporadic adult-onset ataxia of unknown etiology","Idiopathic late-onset cerebellar ataxia","SAOA"],[16079,"Sporadic Creutzfeldt-Jakob disease","Sporadic CJD"],[35614,"Sporadic fatal insomnia"],[15660,"Sporadic fetal brain disruption sequence"],[17659,"Sporadic hyperekplexia"],[16394,"Sporadic infantile bilateral striatal necrosis","ABSN","Acute bilateral striatal necrosis","Sporadic IBSN","Sporadic infantile striatonigral degeneration","Sporadic infantile striatonigral necrosis"],[17190,"Sporadic pheochromocytoma/secreting paraganglioma"],[8295,"Sporadic porphyria cutanea tarda","Porphyria cutanea tarda type I"],[5968,"Sporotrichosis"],[1195,"spotted fever"],[8482,"Sprengel deformity","High scapula"],[1813,"squamous blepharitis"],[18537,"Squamous cell carcinoma of gallbladder and extrahepatic biliary tract","Squamous cell carcinoma of gallblader and EBT"],[18534,"Squamous cell carcinoma of liver and intrahepatic biliary tract","Squamous cell carcinoma of liver and IBT"],[18521,"Squamous cell carcinoma of pancreas","Pancreatic squamous cell carcinoma"],[4132,"Squamous cell carcinoma of the anal canal","anal canal squamous cell carcinoma"],[6143,"Squamous cell carcinoma of the cervix uteri","cervical squamous cell carcinoma"],[18513,"Squamous cell carcinoma of the colon","squamous cell carcinoma of colon"],[16266,"Squamous cell carcinoma of the corpus uteri","Endometrial squamous cell carcinoma"],[5580,"Squamous cell carcinoma of the esophagus","ESCC","Esophageal epidermoid carcinoma","Esophageal squamous cell carcinoma"],[44638,"Squamous cell carcinoma of the hypopharynx","hypopharynx squamous cell carcinoma"],[5595,"Squamous cell carcinoma of the larynx","laryngeal squamous cell carcinoma"],[21427,"Squamous cell carcinoma of the lip","squamous cell carcinoma of lip"],[44705,"Squamous cell carcinoma of the nasal cavity and paranasal sinuses","Squamous cell carcinoma of the nasal cavity and sinuses","paranasal sinus squamous cell carcinoma"],[4958,"Squamous cell carcinoma of the oral cavity","oral cavity squamous cell carcinoma"],[44704,"Squamous cell carcinoma of the oropharynx","oropharynx squamous cell carcinoma"],[18352,"Squamous cell carcinoma of the penis","Penile squamous cell carcinoma","squamous cell carcinoma of penis"],[18515,"Squamous cell carcinoma of the rectum","Rectal squamous cell carcinoma","squamous cell carcinoma of rectum"],[18509,"Squamous cell carcinoma of the small intestine","Squamous cell carcinoma of the small bowel"],[6230,"Squamous cell carcinoma of the stomach","Gastric squamous cell carcinoma"],[12885,"SRD5A3-CDG","CDG syndrome type Iq","CDG-Iq","CDG1Q","Congenital disorder of glycosylation type 1q","Congenital disorder of glycosylation type Iq","SRD5A3-congenital disorder of glycosylation"],[10490,"SSR4-CDG","CDG syndrome type Iy","CDG-Iy","CDG1Y","Carbohydrate deficient glycoprotein syndrome type Iy","Congenital disorder of glycosylation type 1y","Congenital disorder of glycosylation type Iy","SSR4-congenital disorder of glycosylation"],[5969,"St. Louis encephalitis","Saint Louis encephalitis"],[30912,"STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome","intellectual disability, autosomal dominant 47"],[8484,"Stapes ankylosis with broad thumbs and toes","Teunissen-Cremers syndrome"],[18183,"Staphylococcal necrotizing pneumonia"],[18181,"Staphylococcal scalded skin syndrome","Generalized exfoliative disease","SSSS"],[18180,"Staphylococcal scarlet fever"],[20545,"Staphylococcal toxic-shock syndrome","Staphylococcal TSS"],[41879,"staphylococcus aureus pneumonia"],[1801,"staphyloma posticum"],[19353,"Stargardt disease","Fundus flavimaculatus","Stargardt 1"],[15648,"Startle epilepsy"],[13599,"STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome","autoimmune enteropathy and endocrinopathy - susceptibility to chronic infections syndrome"],[14414,"STAT3-related early-onset multisystem autoimmune disease"],[8486,"Steatocystoma multiplex-natal teeth syndrome"],[14061,"Steel syndrome","Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome"],[8056,"Steinert myotonic dystrophy","Myotonic dystrophy type 1","Steinert disease"],[971129,"Stellate multiform amelanotic choroidopathy","SMACH","Serous maculopathy due to aspecific choroidopathy"],[1767,"stenosis of lacrimal punctum"],[2511,"stenosis of lacrimal sac"],[13021,"Sterile multifocal osteomyelitis with periostitis and pustulosis","Autoinflammatory disease due to interleukin-1 receptor antagonist deficiency","DIRA","Interleukin-1 receptor antagonist deficiency","OMPP"],[16066,"Sternal cleft","Sternum bifidum","Cleft sternum"],[17904,"Steroid dehydrogenase deficiency-dental anomalies syndrome","Lyngstadaas syndrome"],[19385,"Steroid-responsive encephalopathy associated with autoimmune thyroiditis","Hashimoto encephalitis","SREAT"],[18229,"Stevens-Johnson syndrome","Dermatostomatitis, Stevens Johnson type"],[44739,"Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome","SJS/TEN overlap syndrome","Stevens-Johnson/TEN overlap syndrome","Stevens-Johnson/toxic epidermal necrolysis overlap syndrome"],[19810,"Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum","Epidermal necrolysis","SJS-TEN","toxic epidermal necrolysis"],[19354,"Stickler syndrome","Hereditary progressive arthroophthalmopathy"],[7160,"Stickler syndrome type 1"],[11493,"Stickler syndrome type 2"],[8491,"Stiff person spectrum disorder","Moersch-Woltman syndrome","SMS","SPS","Stiff man spectrum disorder","stiff-person syndrome"],[8492,"Stiff skin syndrome"],[8743,"Stimmler syndrome"],[14405,"STING-associated vasculopathy with onset in infancy","SAVI"],[4716,"stomach carcinoma in situ"],[8497,"Stormorken-Sjaastad-Langslet syndrome","Stormorken syndrome","Thrombocytopathy-asplenia-miosis syndrome"],[20405,"Straddling and/or overriding mitral valve"],[19814,"Straddling or overriding tricuspid valve"],[20533,"Streptobacillary rat-bite fever"],[1316,"streptococcal meningitis"],[5972,"streptococcal pneumonia"],[21783,"streptococcal sore throat"],[20544,"Streptococcal toxic-shock syndrome","Streptococcal TSS"],[35293,"Streptococcus pneumoniae-associated hemolytic uremic syndrome","S. pneumoniae-associated HUS","SP-HUS"],[18865,"Striate palmoplantar keratoderma","Keratosis palmoplantaris striata","Keratosis palmoplantaris striata et areata","Keratosis palmoplantaris varians of Wachters"],[3122,"striatonigral degeneration"],[6613,"stromal corneal pigmentation"],[5974,"Strongyloidiasis","Anguilluliasis","Anguillulosis"],[44321,"Structural heart defects-renal anomalies syndrome","SHDRA syndrome","Severe congenital heart defects-renal anomalies syndome","structural heart defects and renal anomalies syndrome"],[14270,"STT3A-CDG","CDG syndrome type Iw","CDG-Iw","CDG1W","Congenital disorder of glycosylation type 1w","Congenital disorder of glycosylation type Iw","STT3A-congenital disorder of glycosylation"],[14271,"STT3B-CDG","CDG syndrome type Ix","CDG-Ix","CDG1X","Carbohydrate deficient glycoprotein syndrome type Ix","Congenital disorder of glycosylation type 1x","Congenital disorder of glycosylation type Ix","STT3B-congenital disorder of glycosylation"],[8501,"Sturge-Weber syndrome"],[12812,"STXBP1-related developmental and epileptic encephalopathy","STXBP1-related encephalopathy","developmental and epileptic encephalopathy, 4"],[800043,"Stüve-Wiedemann syndrome","Neonatal Schwartz-Jampel syndrome","SJS2","STWS","SWS","Schwartz-Jampel syndrome type 2","Stüve-Wiedemann dysplasia","Stüve-Wiedemann syndrome type 1","Stüve-Wiedemann syndrome 1"],[15093,"Sub-cortical nodular heterotopia"],[15573,"Subacute cutaneous lupus erythematosus"],[16102,"Subacute inflammatory demyelinating polyneuropathy","Subacute inflammatory demyelinating polyradiculoneuropathy"],[9835,"Subacute sclerosing leukoencephalitis","Dawson encephalitis","SSPE","Subacute inclusion body encephalitis","Subacute sclerosing panencephalitis","Van Bogaert disease","Van Bogaert encephalitis"],[6982,"subacute thyroiditis"],[20444,"Subaortic course of innominate vein","Subaortic course of brachiocephalic vein"],[10082,"Subaortic stenosis-short stature syndrome","Onat syndrome"],[6614,"Subcorneal pustular dermatosis","Pustulosis subcornealis","Sneddon-Wilkinson disease","Subcorneal pustular dermatitis"],[20491,"Subcortical band heterotopia","Subcortical laminar heterotopia"],[19475,"Subcutaneous panniculitis-like T-cell lymphoma","SPTCL","Subcutaneous panniculitic T-cell lymphoma"],[16693,"Subependymal giant cell astrocytoma","SEGA"],[15094,"Subependymal nodular heterotopia"],[7667,"Subependymoma"],[13026,"Subepithelial mucinous corneal dystrophy","SMCD"],[1293,"subglottis cancer"],[4667,"sublingual gland cancer"],[4724,"submandibular gland cancer"],[15479,"Submucosal cleft palate"],[1664,"submucous uterine fibroid"],[17866,"Subpulmonary stenosis"],[2494,"substance-related disorder"],[10083,"Succinic semialdehyde dehydrogenase deficiency","4-hydroxybutyric aciduria","Gamma-hydroxybutyric aciduria","SSADH deficiency"],[9492,"Succinyl-CoA:3-oxoacid CoA transferase deficiency","OXCT1 deficiency","SCOT deficiency","Succinyl-CoA acetoacetate transferase deficiency","Succinyl-CoA:3-ketoacid CoA transferase deficiency"],[12124,"Sudden infant death-dysgenesis of the testes syndrome","SIDDT"],[43373,"Sudden sensorineural hearing loss","Secondary acute sensorineural hearing loss"],[10087,"Sugarman brachydactyly","Sugarman-Hager-Kulik syndrome"],[20480,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency","Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase","MOCOD"],[9643,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A","MOCOD type A","Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A"],[9644,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B","Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type B","MOCOD type B","sulfite oxidase deficiency due to molybdenum cofactor deficiency type B1"],[14212,"Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C","Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type C","MOCOD type C"],[5326,"sunburn"],[18927,"SUNCT syndrome","Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing"],[7813,"Superficial epidermolytic ichthyosis","Ichthyosis bullosa of Siemens","SEI"],[16594,"Superficial siderosis","Hemosiderosis of the central nervous system","Superficial hemosiderosis of the CNS","Superficial hemosiderosis of the central nervous system","Superficial siderosis of the CNS","Superficial siderosis of the central nervous system"],[19504,"Superior limbic keratoconjunctivitis","SLK","Theodore superior limbic keratoconjunctivitis","Theodore syndrome"],[2687,"Superior mesenteric artery syndrome","SMAS","Wilkie syndrome"],[15854,"Supernumerary breasts","Polymastia","Accessory breasts"],[958093,"Supernumerary kidney","Accessory kidney","non-syndromic supernumerary kidneys"],[15389,"Supernumerary nostril","Accessory nostril"],[1065,"supine hypotensive syndrome"],[1019,"suppression amblyopia"],[1724,"supraglottis cancer"],[18757,"Supratip dysplasia"],[8504,"Supravalvular aortic stenosis","SVAS"],[17870,"Supravalvular pulmonary stenosis"],[14733,"SURF1-related Charcot-Marie-Tooth disease type 4","CMT4K","Charcot-Marie-Tooth disease type 4K","SURF1-related CMT4","SURF1-related severe demyelinating Charcot-Marie-Tooth disease"],[19390,"Susac syndrome","Retinocochleocerebral vasculopathy"],[12682,"Susceptibility to infection due to TYK2 deficiency","immunodeficiency 35"],[12161,"Susceptibility to respiratory infections associated with CD8alpha chain mutation","Familial CD8 deficiency"],[13427,"Susceptibility to viral and mycobacterial infections due to STAT1 deficiency","Predisposition to severe viral infection due to STAT1 deficiency","STAT1 deficiency","immunodeficiency 31B"],[11959,"Sweet syndrome","Acute febrile neutrophilic dermatosis"],[17648,"Sydenham chorea"],[15516,"Symbrachydactyly of hands and feet","De Smet-Fabry-Fryns syndrome"],[15269,"Symmetrical thalamic calcifications"],[19198,"Sympathetic ophthalmia","Sympathetic uveitis"],[8510,"Symphalangism with multiple anomalies of hands and feet","Learman syndrome"],[17193,"Symptomatic form of Coffin-Lowry syndrome in female carriers"],[34028,"Symptomatic form of HFE-related hemochromatosis","Symptomatic form of classic hemochromatosis","Symptomatic form of hemochromatosis type 1","obsolete symptomatic form of hemochromatosis type 1"],[16097,"Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers"],[35826,"Symptomatic form of X-linked centronuclear myopathy in female carriers","Symptomatic form of X-linked myotubular myopathy in female carriers","Symptomatic form of XLCNM in female carriers","Symptomatic form of XLMTM in female carriers"],[11281,"Synaptic congenital myasthenic syndrome","congenital myasthenic syndrome 5"],[21002,"syndactyly"],[8512,"Syndactyly type 1"],[21651,"Syndactyly type 2","Synpolydactyly"],[8514,"Syndactyly type 3","SD3","Syndactyly of fingers 4 and 5"],[8515,"Syndactyly type 4","Polysyndactyly, Haas type"],[8516,"Syndactyly type 5","Postaxial syndactyly with metacarpal synostosis","SD5"],[17460,"Syndactyly type 6","Mitten hand","Syndactyly, mitten type","Unilateral syndactyly of digits 2-5"],[10669,"Syndactyly type 8","Fusion of metacarpals 4 and 5"],[14069,"Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome","Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome","Wahab syndrome"],[13363,"Syndactyly-nystagmus syndrome due to 2q31.1 microduplication","Syndactyly-nystagmus syndrome due to dup(2)(q31.1)","Syndactyly-nystagmus syndrome due to trisomy 2q31.1","chromosome 2q31.1 duplication syndrome"],[8517,"Syndactyly-polydactyly-ear lobe syndrome"],[10408,"Syndactyly-telecanthus-anogenital and renal malformations syndrome","STAR syndrome"],[15226,"Syndrome with limb malformations as a major feature","obsolete syndrome with limb malformations as a major feature"],[13863,"Syndromic autoimmune enteropathy due to LRBA deficiency","Syndromic autoimmune enteropathy due to LPS responsive beige-like anchor protein","combined immunodeficiency due to LRBA deficiency"],[34204,"Syndromic congenital sodium diarrhea","Syndromic congenital tufting enteropathy"],[12413,"Syndromic microphthalmia type 5","MCOPS5","Syndromic microphthalmia/anophthalmia due to OTX2 mutation"],[13245,"Syndromic multisystem autoimmune disease due to Itch deficiency"],[8138,"Syndromic orbital border hypoplasia","Urrets-Zavalia syndrome"],[17264,"Syndromic recessive X-linked ichthyosis","Recessive X-linked ichthyosis with extracutaneous manifestations","Syndromic RXLI"],[54741,"Syndromic sensorineural deafness due to combined oxidative phosphorylation defect","Syndromic sensorineural deafness due to COXPD","Syndromic sensorineural hearing loss due to COXPD","combined oxidative phosphorylation deficiency 34"],[12960,"SYNGAP1-related developmental and epileptic encephalopathy","SYNGAP1-related DEE","intellectual disability, autosomal dominant 5"],[17981,"Syngnathia-cleft palate syndrome"],[1468,"synovial plica syndrome"],[10434,"Synovial sarcoma","Synovialosarcoma"],[8513,"Synpolydactyly type 1","SD2, Vordingborg type","SD2a","SPD, Vordingborg type","SPD1","Synpolydactyly, Vordingborg type"],[11984,"Synpolydactyly type 2","SD2, Debeer type","SD2b","SPD, Debeer type","SPD2","Synpolydactyly, Debeer type"],[12447,"Synpolydactyly type 3","SD2, Malik type","SD2c","SPD, Malik type","SPD3","Synpolydactyly, Malik type"],[6992,"syphilitic aortitis"],[19392,"Syringocystadenoma papilliferum","Fistulous vegetative verrucous hydradenoma","Naevus syringocystadenomatosus papilliferus","Papillary syringocystadenoma","SCAP","Syringadenoma papilliferum"],[1956,"Systemic capillary leak syndrome","Capillary hyperpermeability syndrome","Capillary leak syndrome","Clarkson disease","Idiopathic capillary leak syndrome","SCLS"],[18223,"Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood","Systemic EBV+ T-cell LPD of childhood","Systemic EBV-positive T-cell lymphoproliferative disease of childhood"],[7915,"Systemic lupus erythematosus","Disseminated lupus erythematosus","SLE"],[16586,"Systemic mastocytosis"],[20332,"Systemic mastocytosis with associated hematologic neoplasm","SM-AHN","SM-AHNMD","Systemic mastocytosis with an associated clonal hematologic non-mast cell lineage disease"],[19545,"Systemic monochloroacetate poisoning"],[18596,"Systemic polyarteritis nodosa","Systemic PAN","Systemic periarteritis nodosa"],[8919,"Systemic primary carnitine deficiency","CDSP","CUD","Carnitine transporter defect","Carnitine uptake deficiency","Deficiency of plasma-membrane carnitine transporter","SPCD","systemic primary carnitine deficiency disease"],[5100,"Systemic sclerosis"],[19434,"Systemic-onset juvenile idiopathic arthritis","Still disease","Systemic-onset JIA"],[17844,"Sézary syndrome","Sézary lymphoma","Sezary syndrome"],[44200,"T-B+ severe combined immunodeficiency","T-B+ SCID"],[15703,"T-B+NK+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta deficiency","T-B+NK+ SCID due to CD3delta/CD3epsilon/CD3zeta deficiency","T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta"],[15702,"T-B+NK+ severe combined immunodeficiency due to CD45 deficiency","T-B+NK+ SCID due to CD45 deficiency","T-B+ severe combined immunodeficiency due to CD45 deficiency"],[14168,"T-B+NK+ severe combined immunodeficiency due to CORO1A deficiency","T-B+NK+ SCID due to CORO1A deficiency","T-B+NK+ SCID due to coronin-1A deficiency","T-B+NK+ severe combined immunodeficiency due to coronin-1A deficiency","severe combined immunodeficiency due to CORO1A deficiency"],[11132,"T-B+NK+ severe combined immunodeficiency due to FOXN1 deficiency","T-B+NK+ SCID due to FOXN1 deficiency","Alymphoid cystic thymic dysgenesis","Nude/SCID","Nude/severe combined immunodeficiency","Severe T-cell immunodeficiency-congenital alopecia-nail dystrophy syndrome","Winged helix deficiency","T-cell immunodeficiency, congenital alopecia, and nail dystrophy"],[15701,"T-B+NK+ severe combined immunodeficiency due to IL-7Ralpha deficiency","T-B+NK+ SCID due to IL-7Ralpha deficiency","T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency"],[44721,"T-B+NK+ severe combined immunodeficiency due to LAT deficiency","T-B+NK+ SCID due to LAT deficiency","severe combined immunodeficiency due to LAT deficiency"],[10315,"T-B+NK- severe combined immunodeficiency due to gamma chain deficiency","SCIDX1","T-B+K- severe combined immunodeficiency, X-linked","T-B+NK- SCID due to gamma chain deficiency","T-B+ severe combined immunodeficiency due to gamma chain deficiency"],[10938,"T-B+NK- severe combined immunodeficiency due to JAK3 deficiency","T-B+NK- SCID due to JAK3 deficiency","T-B+ severe combined immunodeficiency due to JAK3 deficiency"],[17855,"T-B- severe combined immunodeficiency","T-B- SCID"],[11086,"T-B-NK+  severe combined immunodeficiency due to complete RAG1/2 deficiency","T-B-NK+ SCID due to complete RAG1/2 deficiency","severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-positive"],[11225,"T-B-NK+ severe combined immunodeficiency due to DCLRE1C deficiency","SCID T-B-NK+ due to ARTEMIS deficiency","SCID T-B-NK+ due to DCLRE1C deficiency","SCID T-B-NK+, Athabascan type","SCID T-B-NK+, Athabaskan type","T-B-NK+ severe combined immunodeficiency due to ARTEMIS deficiency","T-B-NK+ severe combined immunodeficiency, Athabascan type","T-B-NK+ severe combined immunodeficiency, Athabaskan type","severe combined immunodeficiency due to DCLRE1C deficiency"],[14423,"T-B-NK+ severe combined immunodeficiency due to DNA-PKcs deficiency","T-B-NK+ SCID due to DNA-PKcs deficiency","severe combined immunodeficiency due to DNA-PKcs deficiency"],[975911,"T-B-NK- reticular dysgenesis-like severe combined immunodeficiency","Activated RAC2-associated severe combined immunodeficiency","Activated Rac2 defect","Non-syndromic reticular dysgenesis","T-B-NK- reticular dysgenesis-like SCID","reticular dysgenesis-like severe combined immunodeficiency"],[7064,"T-B-NK- severe combined immunodeficiency due to adenosine deaminase deficiency","ADA deficiency","T-B-NK- SCID due to adenosine deaminase deficiency","severe combined immunodeficiency, autosomal recessive, T cell-negative, B cell-negative, NK cell-negative, due to adenosine deaminase deficiency"],[17925,"T-cell immunodeficiency with epidermodysplasia verruciformis","T-cell immunodeficiency due to RHOH deficiency"],[9451,"T-cell immunodeficiency with thymic aplasia","Isolated aplasia/hypoplasia of the thymus","Isolated congenital athymia","Isolated congenital thymic aplasia/hypoplasia","Isolated thymic defect due to thymic aplasia/hypoplasia","Nezelof syndrome"],[19469,"T-cell large granular lymphocyte leukemia","Proliferation of large granular lymphocytes","T-LGL","T-cell LGL leukemia"],[19468,"T-cell prolymphocytic leukemia","T-PLL","T-cell chronic lymphocytic leukemia"],[17597,"T-cell/histiocyte rich large B cell lymphoma","THRLBCL"],[5977,"tabes dorsalis"],[367,"taeniasis"],[18702,"TAFRO syndrome","Thrombocytopenia-anasarca-fever-renal insufficiency-organomegaly syndrome","Castleman-Kojima disease"],[17991,"Takayasu arteritis","Cervical aortic arch"],[14757,"Takenouchi-Kosaki syndrome","Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome"],[19018,"Tako-Tsubo cardiomyopathy","Ampulla cardiomyopathy","Apical ballooning syndrome","Ballooning cardiomyopathy","Broken heart syndrome","Stress cardiomyopathy","Tako-Tsubo syndrome","Takotsubo cardiomyopathy","Takotsubo syndrome","Transient left ventricular apical ballooning syndrome"],[304,"Talaromycosis","Penicilliosis","Talaromyces marneffei infection"],[14918,"Tall stature-intellectual disability-renal anomalies syndrome","Thauvin-Robinet-Faivre syndrome"],[14401,"Tall stature-long halluces-multiple extra-epiphyses syndrome","Tall stature-scoliosis-macrodactyly of the halluces syndrome","tall stature-scoliosis-macrodactyly of the great toes syndrome"],[12330,"Talo-patello-scaphoid osteolysis","Singh-Williams-McAlister syndrome"],[8783,"Tangier disease","ATP-binding cassette transporter A1 deficiency","Analphalipoproteinemia"],[979359,"TARDBP-related predominantly upper-limb distal myopathy"],[10711,"TARP syndrome","Pierre Robin sequence-congenital heart defect-talipes syndrome","Pierre Robin syndrome-congenital heart defect-talipes syndrome","Talipes equinovarus-atrial septal defect-Robin sequence-persistence of the left superior vena cava syndrome"],[20462,"Tarsal kink syndrome"],[6994,"tarsal tunnel syndrome"],[8521,"Tarsal-carpal coalition syndrome"],[14382,"Tatton-Brown-Rahman syndrome","DNMT3A-related overgrowth syndrome","Tatton-Brown-Rahman overgrowth syndrome"],[10100,"Tay-Sachs disease"],[17726,"Tay-Sachs disease, adult form","Beta-hexosaminidase subunit alpha deficiency, adult  form","GM2 gangliosidosis, Tay-Sachs variant, adult form","GM2 gangliosidosis, hexosaminidase A deficiency variant, adult form","HEXA disorder, adult form","Late-onset Tay-Sachs disease","Tay-Sachs disease, B variant, adult form"],[17724,"Tay-Sachs disease, infantile form","Acute infantile Tay-Sachs disease","Beta-hexosaminidase subunit alpha deficiency, infantile form","GM2 gangliosidosis, Tay-Sachs variant, infantile form","GM2 gangliosidosis, hexosaminidase A deficiency variant, infantile form","HEXA disorder, infantile form","Tay-Sachs disease, b variant, infantile form"],[17725,"Tay-Sachs disease, juvenile form","Beta-hexosaminidase subunit alpha deficiency, juvenile form","GM2 gangliosidosis, Hexosaminidase A deficiency variant, juvenile form","GM2 gangliosidosis, Tay-Sachs variant, juvenile form","HEXA disorder, juvenile form","Subacute juvenile Tay-Sachs disease","Tay-Sachs disease, b variant, juvenile form"],[14823,"TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome","hypotonia, infantile, with psychomotor retardation and characteristic facies 3"],[14160,"TCR-alpha-beta-positive T-cell deficiency","TCR-alpha-beta+ T-cell deficiency"],[10101,"Teebi-Shaltout syndrome"],[8533,"teeth, supernumerary"],[8901,"Tel Hashomer camptodactyly syndrome","Camptodactyly-muscular hypoplasia-skeletal anomalies-abnormal palmar creases syndrome"],[19576,"Telangiectasia macularis eruptiva perstans"],[17997,"Telecanthus-hypertelorism-strabismus-pes cavus syndrome"],[11170,"Telethonin-related limb-girdle muscular dystrophy R7","Autosomal recessive limb-girdle muscular dystrophy type 2G","LGMD due to telethonin deficiency","LGMD type 2G","LGMD2G","Limb-girdle muscular dystrophy due to telethonin deficiency","Limb-girdle muscular dystrophy type 2G","Telethonin-related LGMD R7"],[14848,"TELO2-related intellectual disability-neurodevelopmental disorder","You-Hoover-Fong syndrome"],[2153,"telogen effluvium"],[18137,"Temperature-sensitive oculocutaneous albinism type 1","OCA1-TS","TS OCA type 1"],[17286,"TEMPI syndrome","Telangiectasia-erythrocytosis-monoclonal gammopathy-perinephric-fluid collections-intrapulmonary shunting syndrome"],[14541,"Temple syndrome","motor developmental delay due to 14q32.2 paternally expressed gene defect"],[19915,"Temple syndrome due to maternal uniparental disomy of chromosome 14","UPD(14)mat","maternal uniparental disomy of chromosome 14"],[16782,"Temple syndrome due to paternal 14q32.2 hypomethylation","paternal 14q32.2 hypomethylation syndrome"],[16780,"Temple syndrome due to paternal 14q32.2 microdeletion","Paternal del(14)(q32.2)","paternal 14q32.2 microdeletion syndrome"],[12735,"Temple-Baraitser syndrome","Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome","TMBTS"],[2218,"temporal lobe cancer"],[11533,"Temtamy preaxial brachydactyly syndrome"],[9033,"Temtamy syndrome","Craniofacial dysmorphism-coloboma-corpus callosum agenesis syndrome","Temtamy-Shalash syndrome"],[24686,"Tenosynovial giant cell tumor","Diffuse-type GCT","Diffuse-type giant cell tumor","TGCT","TSGCT","tenosynovial giant cell tumor, diffuse type"],[2718,"Teratoma of the central nervous system","central nervous system teratoma"],[970962,"Terminal myelocystocele"],[10279,"Terminal osseous dysplasia-pigmentary defects syndrome"],[33818,"Terrien marginal degeneration"],[4497,"tertiary syphilis"],[10850,"Tessier number 4 facial cleft"],[15416,"Tessier number 5 facial cleft"],[15417,"Tessier number 6 facial cleft"],[13300,"Tessier number 7 facial cleft","Commissural facial cleft","Transverse facial cleft"],[17967,"Testicular agenesis","Bilateral anorchia"],[5447,"testicular cancer"],[8000015,"Testicular regression syndrome","ETRS","Embryonic testicular regression syndrome","TRS","Vanishing testes syndrome","Vanishing testis syndrome","XY gonadal agenesis syndrome","46,XY sex reversal 11"],[3669,"Testicular seminomatous germ cell tumor","testicular seminoma"],[18193,"Testicular teratoma","Teratoma of the testis"],[5526,"Tetanus"],[1737,"tetanus neonatorum"],[10110,"Tetraamelia-multiple malformations syndrome","PAPPA syndrome","PAPPAS","Zimmer phocomelia"],[16045,"Tetragametic chimerism syndrome","46,XX/46,XY chimerism","tetragametic chimerism"],[17389,"Tetrahydrobiopterin-responsive phenylketonuria","BH4-responsive PKU","BH4-responsive phenylketonuria","Tetrahydrobiopterin-responsive PKU"],[8542,"Tetralogy of Fallot"],[8544,"Tetramelic monodactyly","Sommer-Hines syndrome"],[18026,"Tetraploidy syndrome"],[13668,"Tetrasomy 18p syndrome","Isochromosome 18p","tetrasomy 18p"],[19864,"Tetrasomy 21 syndrome","Isochromosome 21","tetrasomy 21"],[18028,"Tetrasomy 5p syndrome","Isochromosome 5p","tetrasomy 5p"],[18030,"Tetrasomy 9p syndrome","Isochromosome 9p","tetrasomy 9p"],[19525,"Tetrasomy X syndrome","48,XXXX syndrome","Quadruple X","Tetra X","tetrasomy X"],[11417,"TFR2-related hemochromatosis","Hereditary hemochromatosis type 3","hemochromatosis type 3"],[9202,"Thakker-Donnai syndrome","Dysmorphism-multiple structural anomalies syndrome"],[984,"thalassemia"],[44210,"thalassemia minor"],[18034,"Thalidomide embryopathy","Fetal thalidomide syndrome"],[17042,"Thanatophoric dysplasia","TD"],[8546,"Thanatophoric dysplasia type 1","TD1","Thanatophoric dwarfism type 1"],[8547,"Thanatophoric dysplasia type 2","Cloverleaf skull-micromelic bone dysplasia syndrome","TD2","Thanatophoric dwarfism type 2","Thanatophoric dwarfism-cloverleaf skull syndrome"],[20543,"Theca steroid-producing cell malignant tumor of ovary, not further specified","Theca (steroid-producing) cell cancer, not further specified"],[11841,"Thiamine-responsive encephalopathy","biotin-responsive basal ganglia disease","Biotin-thiamine-responsive basal ganglia disease","BBGD","BTBGD"],[17054,"Thiamine-responsive maple syrup urine disease","Thiamine-responsive BCKD deficiency","Thiamine-responsive MSUD","Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency"],[9575,"Thiamine-responsive megaloblastic anemia syndrome","Rogers syndrome","TRMA","Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness","Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss"],[7504,"Thickened earlobes-conductive deafness syndrome","Escher-Hirt syndrome","Thickened earlobes-conductive hearing loss syndrome"],[11185,"Thiel-Behnke corneal dystrophy","Anterior limiting membrane dystrophy type 2","Anterior limiting membrane dystrophy type II","Corneal dystrophy of Bowman layer type 2","Corneal dystrophy of Bowman layer type II","Curly fiber corneal dystrophy","Honeycomb corneal dystrophy","TBCD","Waardenburg-Jonker corneal dystrophy"],[8142,"Thiemann disease, familial form","Aseptic necrosis of phalangeal epiphyses","Osteochondrosis of phalangeal epiphyses"],[15462,"Thin ribs-tubular bones-dysmorphism syndrome","Sharma-Kapoor-Ramji syndrome"],[15647,"Thinking epilepsy","thinking seizures"],[15377,"Third branchial cleft anomaly","Third branchial cleft cyst","Third branchial cleft fistula"],[13362,"THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome","BBIS","Beaulieu-Boycott-Innes syndrome"],[18043,"Thomas syndrome","Potter sequence-cleft lip/palate-cardiopathy syndrome"],[9710,"Thomsen and Becker disease"],[3274,"thoracic cancer"],[10115,"Thoracic dysplasia-hydrocephalus syndrome"],[5979,"Thoracic outlet syndrome"],[15774,"Thoraco-abdominal enteric duplication"],[8551,"Thoracolaryngopelvic dysplasia","Barnes syndrome"],[10116,"Thoracomelic dysplasia","Rivera-Perez-Salas syndrome","Thoracolimb dysplasia, Rivera type"],[18000,"Thrombocythemia with distal limb defects","Familial thrombocytosis with transverse limb defect","Hereditary thrombocytosis with transverse limb defect"],[19031,"Thrombocytopenia with congenital dyserythropoietic anemia","Congenital dyserythropoietic anemia with thombocytopenia","X-linked congenital dyserythropoietic anemia with thrombocytopenia","XDAT"],[10121,"Thrombocytopenia-absent radius syndrome","TAR syndrome"],[13775,"Thrombomodulin-related bleeding disorder","THBD-related bleeding disorder","THBD-related coagulopathy","Thrombomodulin-related coagulopathy"],[8560,"thrombophilia due to activated protein C resistance"],[2800,"thrombophlebitis"],[1954,"thrombophlebitis migrans"],[19737,"thrombotic microangiopathy"],[18896,"Thrombotic thrombocytopenic purpura","Moschcowitz disease","TTP"],[8562,"Thumb deformity-alopecia-pigmentation anomaly syndrome"],[8563,"Thumb stiffness-brachydactyly-intellectual disability syndrome","Piussan-Lenaerts-Mathieu syndrome"],[33816,"Thygeson superficial punctate keratitis","Thygeson superficial punctate keratopathy"],[6451,"Thymic carcinoma"],[20516,"Thymic neuroendocrine carcinoma"],[19964,"Thymic neuroendocrine tumor"],[10129,"Thymic-renal-anal-lung dysplasia"],[6456,"Thymoma"],[2588,"Thymoma type A"],[16975,"Thymoma type AB"],[16974,"Thymoma type B"],[15696,"Thymoma-hypogammaglobulinemia syndrome","Good syndrome"],[2586,"thymus cancer"],[10128,"Thyrocerebrorenal syndrome","Cutler-Bass-Romshe syndrome"],[2108,"thyroid cancer"],[19854,"Thyroid ectopia"],[3240,"thyroid gland disorder"],[19860,"Thyroid hemiagenesis"],[19861,"Thyroid hypoplasia"],[19962,"Thyroid lymphoma"],[4126,"thyroiditis"],[19201,"Thyrotoxic periodic paralysis","Thyrotoxic hypokalemic periodic paralysis"],[10138,"thyrotoxicosis"],[18050,"Tibial aplasia-ectrodactyly syndrome","Aplasia of tibia with split-hand/split-foot deformity","SHFLD syndrome","SHFM associated with aplasia of long bones","Split hand/foot malformation with long bone deficiency","Split-hand/foot malformation associated with aplasia of long bones","TH-SHFM","Tibial hemimelia with split hand/foot malformation","Tibial hemimelia-ectrodactyly syndrome"],[8572,"Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome","tibia, hypoplasia or aplasia of, with polydactyly"],[10870,"Tibial muscular dystrophy","Finnish tibial muscular dystrophy","TMD","Udd myopathy","Distal myopathy, Udd type","Distal titinopathy"],[2420,"tic disorder"],[17572,"Tick-borne encephalitis","TBE"],[1621,"tick-borne relapsing fever"],[7077,"Tietz syndrome","Hypopigmentation-deafness syndrome","Hypopigmentation-hearing loss syndrome"],[1858,"Tietze syndrome"],[10979,"Timothy syndrome","LQT8","Long QT syndrome type 8","Long QT syndrome-syndactyly syndrome"],[35678,"Timothy syndrome type 1","LQT8 type 1","TS1"],[35679,"Timothy syndrome type 2","LQT8 type 2","TS2"],[1461,"tinea corporis"],[245,"tinea imbricata"],[1699,"tinea manuum"],[4677,"tinea nigra"],[5984,"tinea pedis"],[1628,"tinea unguium"],[700322,"tinnitus"],[12127,"Titin-related limb-girdle muscular dystrophy R10","Autosomal recessive limb-girdle muscular dystrophy type 2J","LGMD type 2J","LGMD2J","Limb-girdle muscular dystrophy type 2J","Titin-related LGMD R10"],[12301,"TK2-related mitochondrial DNA maintenance defect, myopathic form","TK2 deficiency","Thymidine kinase 2 deficiency","TK2d","mitochondrial DNA depletion syndrome, myopathic form"],[13870,"TMEM165-CDG","Carbohydrate deficient glycoprotein syndrome type IIk","Congenital disorder of glycosylation type 2k","Congenital disorder of glycosylation type IIk","CDG syndrome type IIk","CDG-IIk","CDG2K","TMEM165-congenital disorder of glycosylation"],[14790,"TMEM199-CDG","CDG syndrome type IIp","CDG-IIp","CDG2P","Carbohydrate deficient glycoprotein syndrome type IIp","Congenital disorder of glycosylation type 2p","Congenital disorder of glycosylation type IIp"],[13546,"TMEM70-related mitochondrial encephalo-cardio-myopathy","Mitochondrial encephalo-cardio-myopathy due to F1Fo ATPase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated ATP synthase deficiency","Mitochondrial encephalo-cardio-myopathy due to isolated mitochondrial respiratory chain complex V deficiency","mitochondrial complex V (ATP synthase) deficiency, nuclear type 2"],[32672,"TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome","intellectual developmental disorder with cardiac defects and dysmorphic facies"],[18314,"TNK2-related epilepsy with severe cognitive regression","Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression"],[12034,"TNP03-related limb-girdle muscular dystrophy D2","Autosomal dominant limb-girdle muscular dystrophy type 1F","LGMD type 1F","LGMD1F","Limb-girdle muscular dystrophy type 1F"],[18983,"Tolosa-Hunt syndrome","Painful ophthalmoplegia"],[16016,"Toluene embryopathy"],[6998,"tonsil cancer"],[4690,"tonsillar fossa cancer"],[4642,"tonsillar pillar cancer"],[1039,"tonsillitis"],[2220,"tooth hard tissue disease"],[14900,"TOR1AIP1-related limb-girdle muscular dystrophy","Autosomal recessive limb-girdle muscular dystrophy type 2Y","Autosomal recessive muscular dystrophy due to LAP1B deficiency","Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency","LGMD type 2Y","LGMD2Y","Muscular dystrophy with progressive weakness, distal contractures and rigid spine","TOR1AIP1-related LGMD"],[9021,"Toriello-Carey syndrome","Corpus callosum agenesis-blepharophimosis-Robin sequence syndrome"],[971125,"Torpedo Maculopathy","Atypical macular coloboma","Congenital hypomelanotic freckle","Paramacular albinotic spot syndrome","Solitary hypopigmented nevus of the retinal pigment epithelium","TM"],[13317,"Torsade-de-pointes syndrome with short coupling interval"],[10748,"Torticollis-keloids-cryptorchidism-renal dysplasia syndrome"],[21548,"Total early-onset cataract"],[7661,"Tourette syndrome"],[7142,"Townes-Brocks syndrome","Imperforate anus-hand, foot and ear anomalies syndrome","REAR syndrome","Renal-ear-anal-radial syndrome","Sensorineural deafness with imperforate anus and hypoplastic thumbs","Sensorineural hearing loss with imperforate anus and hypoplastic thumbs","TBS","Townes syndrome"],[1104,"toxic diffuse goiter"],[5527,"toxic encephalopathy"],[18890,"Toxic epidermal necrolysis","Lyell syndrome"],[4904,"toxic maculopathy"],[17204,"Toxic maculopathy due to antimalarial drugs"],[2105,"toxic megacolon"],[16421,"Toxic oil syndrome"],[1688,"toxic optic neuropathy"],[1431,"toxic or nutritional optic neuropathy"],[100633,"toxic polyneuropathy"],[16468,"Toxin-mediated infectious botulism","Toxin-mediated infective botulism"],[5988,"Toxocariasis"],[5989,"toxoplasmosis"],[4661,"trachea carcinoma in situ"],[18058,"Tracheal agenesis","Tracheal atresia"],[1407,"tracheal cancer"],[5990,"tracheitis"],[8587,"Tracheobronchopathia osteochondroplastica","Tracheopathia osteoplastica"],[1249,"trachoma"],[32572,"TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome","cardiac, facial, and digital anomalies with developmental delay"],[11624,"Transaldolase deficiency","TALDO deficiency"],[10149,"Transcobalamin II deficiency","Inherited deficiency of transcobalamin II"],[18853,"Transgrediens et progrediens palmoplantar keratoderma","Greither disease","Keratosis extremitatum hereditaria progrediens","Keratosis palmoplantaris transgrediens et progrediens","Progressive diffuse PPK","Progressive diffuse palmoplantar keratoderma","Transgrediens et progrediens PPK"],[16556,"Transient congenital hypothyroidism due to neonatal factor"],[9197,"Transient erythroblastopenia of childhood","Transient acquired pure red cell aplasia"],[9383,"Transient familial neonatal hyperbilirubinemia","Lucey-Driscoll syndrome"],[1617,"transient global amnesia"],[17357,"Transient hyperammonemia of the newborn"],[15698,"Transient hypogammaglobulinemia of infancy"],[13771,"Transient infantile hypertriglyceridemia and hepatosteatosis","Transient infantile hypertriglyceridemia and fatty liver"],[8040,"Transient myeloproliferative syndrome","Transient myeloproliferative disease","TMD","Transient abnormal myelopoiesis"],[11073,"Transient neonatal diabetes mellitus","TNDM","diabetes mellitus, transient neonatal, 1"],[18014,"Transient neonatal multiple acyl-CoA dehydrogenase deficiency","Transient neonatal MAD deficiency","Transient neonatal MADD","Transient neonatal glutaric acidemia type 2","Transient neonatal glutaric aciduria type 2"],[18326,"Transient neonatal myasthenia gravis","NMG","Neonatal myasthenia gravis","Transient neonatal acquired myasthenia","Transient neonatal autoimmune myasthenia gravis"],[1241,"transient neonatal neutropenia"],[4877,"transient neonatal thrombocytopenia"],[11888,"Transient predisposition to invasive pyogenic bacterial infection","immunodeficiency 67"],[19643,"Transient pseudohypoaldosteronism","Secondary pseudohypoaldosteronism","TPHA"],[2419,"transient tic disorder"],[18083,"Transient tyrosinemia of the newborn","Transient tyrosinemia of the neonate"],[16272,"Transitional cell carcinoma of the corpus uteri","Endometrial transitional cell carcinoma"],[14881,"Transketolase deficiency","Short stature-developmental delay-congenital heart defect syndrome","TKT deficiency"],[958127,"Transplant-related bronchiolitis obliterans","BOS","Bronchiolitis obliterans syndrome"],[2361,"transverse colon cancer"],[15850,"Transverse vaginal septum"],[14144,"TRAPPC11-related limb-girdle muscular dystrophy R18","Autosomal recessive limb-girdle muscular dystrophy type 2S","LGMD type 2S","LGMD2S","Limb-girdle muscular dystrophy type 2S","TRAPPC11-related LGMD R18","autosomal recessive limb-girdle muscular dystrophy type R18"],[18375,"Traumatic avascular necrosis","Traumatic AVN"],[2457,"Treacher-Collins syndrome","Franceschetti-Klein syndrome","Mandibulofacial dysostosis without limb anomalies"],[12803,"Trehalase deficiency","Isolated trehalose intolerance","diarrhea-vomiting due to trehalase deficiency"],[18656,"Tremor-ataxia-central hypomyelination syndrome","TACH syndrome"],[8591,"Tremor-nystagmus-duodenal ulcer syndrome","Neuhauser-Daly-Magnelli syndrome"],[5991,"Trench fever","Bartonellosis due to Bartonella quintana infection"],[15450,"Triatrial heart","Cor triatriatum"],[19444,"Trichinellosis","Trichinosis"],[8592,"Tricho-dento-osseous syndrome","TDO syndrome"],[8622,"Tricho-retino-dento-digital syndrome","Bork syndrome","Uncombable hair-retinal pigmentary dystrophy-dental anomalies-brachydactyly syndrome"],[11083,"Trichodental syndrome","Kersey syndrome"],[18061,"Trichodermodysplasia-dental alterations syndrome","Pinheiro-Freire Maia-Miranda syndrome"],[19205,"Trichodysplasia-amelogenesis imperfecta syndrome"],[8598,"Trichodysplasia-xeroderma syndrome"],[19445,"Trichofolliculoma"],[9105,"Trichohepatoenteric syndrome","Phenotypic diarrhea","SD/THE","Syndromic diarrhea","Syndromic diarrhea/Tricho-hepato-enteric syndrome","Tricho-hepato-enteric syndrome"],[10152,"Trichomegaly-retina pigmentary degeneration-dwarfism syndrome","Long eyelashes-intellectual disability syndrome","Oliver-McFarlane syndrome"],[30720,"trichomonal vulvovaginitis"],[30705,"Trichomonas prostatitis"],[5993,"Trichomonas vaginitis urogenital infection"],[2154,"trichomoniasis"],[10153,"Trichoodontoonychial dysplasia","Trichoodontoonychial dysplasia with bone deficiency in frontoparietal region"],[8596,"Trichorhinophalangeal syndrome type 1","trichorhinophalangeal syndrome type I"],[7874,"Trichorhinophalangeal syndrome type 2","Langer-Giedion syndrome","trichorhinophalangeal syndrome type II"],[5995,"trichostrongylosis"],[18053,"Trichothiodystrophy"],[13189,"trichotillomania"],[5996,"trichuriasis"],[11514,"Tricuspid atresia"],[19811,"Tricuspid valve agenesis","Congenital unguarded tricuspid orifice"],[8599,"Trigeminal neuralgia"],[800478,"Trigeminal trophic syndrome","TTS","Trigeminal neuropathy with nasal ulceration","Trigeminal neurotrophic ulceration","Trophic ulceration of the ala nasi"],[8600,"trigger thumb"],[979259,"Triglyceride deposit cardiomyovasculopathy","Neutral lipid storage disease with severe cardiovascular involvement","TGCV"],[1732,"trigonitis"],[10154,"Trigonocephaly-bifid nose-acral anomalies syndrome"],[18064,"Trigonocephaly-broad thumbs syndrome","Hunter-Rudd-Hoffmann syndrome"],[10749,"Trigonocephaly-short stature-developmental delay syndrome","Say-Meyer syndrome"],[35362,"TRIM22-related inflammatory bowel disease","TRIM22-related IBD"],[9683,"TRIM32-related limb-girdle muscular dystrophy R8","Autosomal recessive limb-girdle muscular dystrophy type 2H","LGMD due to TRIM32 deficiency","LGMD type 2H","LGMD2H","Limb-girdle muscular dystrophy due to TRIM32 deficiency","Limb-girdle muscular dystrophy type 2H","Sarcotubular myopathy","TRIM32-related LGMD R8"],[11182,"trimethylaminuria"],[14221,"Triose phosphate-isomerase deficiency","triosephosphate isomerase deficiency"],[8607,"Triphalangeal thumbs-brachyectrodactyly syndrome","Carnevale-Hernández-del Castillo-Torres syndrome"],[9279,"Triple A syndrome","triple-A syndrome"],[18067,"Triploidy syndrome","triploidy"],[8016,"Trismus-pseudocamptodactyly syndrome","Distal arthrogryposis type 7","Dutch-Kentucky syndrome","Hecht syndrome","Hecht-Beals syndrome"],[15761,"Trisomy 10p syndrome","trisomy 10p"],[15723,"Trisomy 12p syndrome","Duplication 12p","trisomy 12p"],[18068,"Trisomy 13 syndrome","Patau syndrome","trisomy 13"],[16840,"Trisomy 17p syndrome","Dup(17p)","trisomy 17p"],[18071,"Trisomy 18 syndrome","Chromosome 18 duplication","Edwards syndrome","trisomy 18"],[15740,"Trisomy 18p syndrome","Duplication 18p","Duplication of the short arm of chromosome 18","Trisomy of the short arm of chromosome 18","trisomy 18p"],[16847,"Trisomy 1q syndrome","Duplication 1q","trisomy 1q"],[16844,"Trisomy 20p syndrome","Dup(20p)","Duplication of 20p","Partial duplication of chromosome 20p","Partial duplication of the short arm of chromosome 20","Partial trisomy of chromosome 20p","Partial trisomy of the short arm of chromosome 20","trisomy 20p"],[15767,"Trisomy 4p syndrome","Duplication 4p","Duplication of the short arm of chromosome 4","Trisomy of the short arm of chromosome 4","trisomy 4p"],[15768,"Trisomy 5p syndrome","Duplication 5p","Duplication of the short arm of chromosome 5","Trisomy of the short arm of chromosome 5","trisomy 5p"],[17013,"Trisomy 8p syndrome","Duplication 8p","trisomy 8p"],[15772,"Trisomy 8q syndrome","Duplication 8q","trisomy 8q"],[16526,"Trisomy 9p syndrome","Duplication 9p","Duplication of the short arm of chromosome 9","Trisomy of the short arm of chromosome 9","trisomy 9p"],[18066,"Trisomy X syndrome","47,XXX syndrome","Triplo-X syndrome","XXX syndrome","trisomy X"],[8610,"Tritanopia","Blue colour blindness","Congenital tritanopia","Tritan colour blindness","blue color blindness"],[19158,"Tropical endomyocardial fibrosis","Davies disease","TEMF"],[11986,"Tropical pancreatitis","TCP","Tropical calcific chronic pancreatitis"],[8039,"Tropical spastic paraparesis","HAM/TSP","HTLV-1-associated myelopathy/tropical spastic paraparesis","Human T-lymphotropic virus type I-associated myelopathy/tropical spastic paraparesis","Human T-lymphotropic virus type-1-associated myelopathy/tropical spastic paraparesis","TSP"],[1078,"tropical sprue"],[17468,"True congenital shoulder dislocation","congenital shoulder dislocation"],[15832,"True unicornuate uterus","Complete unilateral Müllerian aplasia","Complete unilateral aplasia of the Müllerian ducts","Unicornuate uterus without rudimentary horn"],[940,"trypanosomiasis"],[19611,"TSH-secreting pituitary adenoma","Thyrotroph adenoma","Pituitary thyrotrophic adenoma","TSH-oma","Thyroid stimulating hormone-secreting pituitary adenoma"],[5126,"tuberculoid leprosy"],[18076,"Tuberculosis"],[6000,"tuberculous peritonitis"],[1734,"Tuberous sclerosis complex","Bourneville syndrome","Tuberous sclerosis"],[8051,"Tubular aggregate myopathy"],[18763,"Tubulinopathy-associated dysgyria","Brain stem asymmetry-superior cerebellar and basal ganglia dysplasia syndrome"],[17890,"Tubulocystic renal cell carcinoma"],[11885,"Tubulointerstitial nephritis and uveitis syndrome","Dobrin syndrome","TINU syndrome"],[11927,"Tufted angioma","Nakagawa angioblastoma"],[18077,"Tularemia"],[43875,"tumor lysis syndrome"],[7727,"Tumor necrosis factor receptor 1 associated periodic syndrome","Familial Hibernian fever","TNF receptor 1-associated periodic syndrome","TRAPS syndrome","TNF receptor 1-associated periodic fever syndrome"],[19498,"Tungiasis"],[20394,"Tunnel subaortic stenosis"],[19499,"Turner syndrome","45,X syndrome","45,X/46,XX syndrome"],[20472,"Turner syndrome due to structural X chromosome anomalies"],[32707,"Turnpenny-Fry syndrome","PCGF2-related disorder","TPFS"],[850013,"Twin anemia-polycythemia sequence","TAPS"],[19805,"Twin to twin transfusion syndrome","Feto-fetal transfusion syndrome"],[850014,"Twin-reversed arterial perfusion sequence","TRAP"],[1443,"tympanosclerosis"],[5147,"type 1 diabetes mellitus"],[5148,"type 2 diabetes mellitus"],[5619,"Typhoid","Typhoid fever","Typhoidal salmonellosis"],[1246,"typhus"],[15737,"Typical nemaline myopathy"],[15554,"Typical urticaria pigmentosa"],[4741,"tyrosinemia"],[10161,"Tyrosinemia type 1","FAH deficiency","Fumarylacetoacetase deficiency","Fumarylacetoacetate hydrolase deficiency","Hepatorenal tyrosinemia","Tyrosinemia type I"],[10160,"Tyrosinemia type 2","Keratosis palmoplantaris-corneal dystrophy syndrome","Oculocutaneous tyrosinemia","Richner-Hanhart syndrome","Tyrosinemia due to TAT deficiency","Tyrosinemia due to tyrosine aminotransferase deficiency","Tyrosinemia type II"],[10162,"Tyrosinemia type 3","Tyrosinemia due to 4-hydroxyphenylpyruvate dioxygenase deficiency","Tyrosinemia due to 4-hydroxyphenylpyruvic acid oxidase deficiency","Tyrosinemia due to HPD deficiency","Tyrosinemia type III"],[18084,"Uhl anomaly"],[9963,"Ulbright-Hodes syndrome","Renal dysplasia-limb defects syndrome","Renal dysplasia-mesomelia-radiohumeral fusion syndrome"],[1772,"ulcer of anus and rectum"],[1551,"ulceration of vulva"],[4799,"ulcerative blepharitis"],[5101,"ulcerative colitis"],[1413,"ulceroglandular tularemia"],[18086,"Ulerythema ophryogenesis"],[355,"Ullrich congenital muscular dystrophy","UCMD","Ullrich scleroatonic muscular dystrophy"],[10165,"Ulna hypoplasia-intellectual disability syndrome"],[10750,"Ulnar hypoplasia-split foot syndrome","Ulnar hypoplasia-lobster-claw deformity of feet syndrome","Van den Berghe-Dequecker syndrome"],[1458,"ulnar nerve lesion"],[8411,"Ulnar-mammary syndrome","Pallister ulnar-mammary syndrome","Schinzel syndrome","UMS"],[12063,"Ulnar/fibula ray defect-brachydactyly syndrome","Morava-Mehes syndrome"],[18085,"Umbilical cord ulceration-intestinal atresia syndrome"],[8073,"UMOD-related autosomal dominant tubulointerstitial kidney disease","ADTKD-UMOD","Autosomal dominant tubulointerstitial kidney disease due to UMOD mutation","Familial juvenile hyperuricemic nephropathy type 1","MCKD2","Medullary cystic kidney disease type 2","UAKD","UMOD kidney disease","UMOD-related ADTKD","Uromodulin-associated kidney disease"],[15192,"Unclassified intestinal pseudoobstruction","obsolete unclassified intestinal pseudoobstruction"],[20315,"Unclassified myelodysplastic syndrome","obsolete unclassified myelodysplastic syndrome"],[20313,"Unclassified myelodysplastic/myeloproliferative disease","Unclassified mixed myelodysplastic/myeloproliferatic syndrome","obsolete unclassified myelodysplastic/myeloproliferative disease"],[16665,"Unclassified vasculitis","obsolete unclassified vasculitis"],[8621,"Uncombable hair syndrome"],[18481,"Undifferentiated carcinoma of esophagus","Undifferentiated esophageal carcinoma"],[18533,"Undifferentiated carcinoma of liver and intrahepatic biliary tract","Undifferentiated carcinoma of liver and IBT"],[18504,"Undifferentiated carcinoma of stomach","Undifferentiated gastric carcinoma"],[16267,"Undifferentiated carcinoma of the corpus uteri","Endometrial undifferentiated carcinoma"],[6479,"Undifferentiated carcinoma with osteoclast-like giant cells of pancreas","OGCT of pancreas","Osteoclastic giant cell tumor of pancreas","Pancreatic osteoclastic giant cell tumor","Pancreatic undifferentiated carcinoma with osteoclast-like giant cells","Undifferentiated carcinoma of pancreas with osteoclast-like giant cells","undifferentiated pancreatic carcinoma with osteoclast-like giant cells"],[19527,"Undifferentiated connective tissue syndrome","UCTD"],[15795,"Undifferentiated embryonal sarcoma of the liver","Embryonal sarcoma of the liver","UES","Undifferentiated sarcoma of the liver"],[2142,"Undifferentiated pleomorphic sarcoma"],[16666,"Unexplained long-lasting fever/inflammatory syndrome","Persistent fever/inflammation of unknown origin"],[19753,"Unicentric Castleman disease","Localized Castleman disease"],[15837,"Unicervical bicornuate uterus","obsolete Unicervical bicornuate uterus"],[15831,"Unilateral aplasia of the Müllerian ducts","Unicornuate uterus","unilateral aplasia of the mullerian ducts"],[19646,"Unilateral congenital megacalycosis"],[17093,"Unilateral focal polymicrogyria"],[15099,"Unilateral hemispheric polymicrogyria"],[19981,"Unilateral multicystic dysplastic kidney","Unilateral MCDK","Unilateral multicystic renal dysplasia"],[31322,"Unilateral ocular duplication","Triophthalmia","Triopia","Unilateral diplophthalmia","Unilateral diplophthalmos"],[17092,"Unilateral polymicrogyria"],[15451,"Univentricular heart"],[19607,"Unspecified juvenile idiopathic arthritis","Unspecified JIA"],[11381,"Unstable beta globin chain variant disease","dominant beta-thalassemia"],[8624,"Upington disease","Hip dysplasia-enchondromata-ecchondroma syndrome"],[10125,"Upper limb defect-eye and ear abnormalities syndrome"],[17476,"Upper limb hypertrophy"],[8620,"Upper limb mesomelic dysplasia, type Fryns","Fryns-Hofkens-Fabry syndrome","upper limb mesomelic dysplasia"],[20654,"Upper tract urothelial carcinoma","Transitional cell carcinoma of the pelvis and ureter","Transitional cell carcinoma of the upper urinary tract","UTUC","renal pelvis/ureter urothelial carcinoma"],[3715,"Urachal carcinoma","bladder urachal carcinoma"],[18844,"Urachal cyst"],[18553,"Urachal diverticulum","Vesicourachal diverticulum"],[18552,"Urachal sinus"],[1378,"urachus cancer"],[9905,"Urban-Rogers-Meyer syndrome","Intellectual disability-short stature-hand contractures-genital anomalies syndrome","Prader-Willi habitus-osteopenia-camptodactyly syndrome"],[1398,"ureter benign neoplasm"],[8627,"ureter cancer"],[7009,"ureterolithiasis"],[4192,"urethra cancer"],[4760,"urethral false passage"],[2127,"urethral stricture"],[1187,"urinary bladder cancer"],[4272,"urinary bladder tuberculosis"],[6001,"urinary schistosomiasis"],[10167,"Urocanic aciduria","Encephalopathy due to urocanase deficiency"],[463,"Urofacial syndrome","Hydronephrosis-inverted smile syndrome","Inverted smile-neurogenic bladder syndrome","Ochoa facial syndrome","Ochoa syndrome","Partial facial palsy with urinary abnormalities"],[19356,"urogenital tract malformation"],[24647,"urolithiasis"],[5492,"urticaria"],[19501,"Usher syndrome","Retinitis pigmentosa-deafness syndrome","Retinitis pigmentosa-hearing loss syndrome","USH"],[10168,"Usher syndrome type 1","USH1"],[16484,"Usher syndrome type 2","USH2"],[16485,"Usher syndrome type 3","USH3"],[15845,"Uterine cervical aplasia and agenesis"],[4702,"uterine cervix leukoplakia"],[7886,"uterine corpus leiomyoma"],[15843,"Uterine hypoplasia"],[4701,"uterine polyp"],[1843,"uterus interstitial leiomyoma"],[15797,"UV-sensitive syndrome"],[7355,"Uveal coloboma-cleft lip and palate-intellectual disability"],[10172,"VACTERL with hydrocephalus","Sujansky-Leonard syndrome"],[8642,"VACTERL/VATER association","VACTERL association","VATER association","Vertebral defects-anal atresia-cardiac defects-tracheo-esophageal fistula-renal anomalies-limb abnormalities association"],[14546,"Vacuolar myopathy with sarcoplasmic reticulum protein aggregates","Myopathy due to calsequestrin and SERCA1 protein overload","Vacuolar aggregate myopathy"],[19007,"Vaginal atresia"],[1402,"vaginal cancer"],[15867,"Vaginal carcinoma","Vaginal malignant epithelial tumor"],[21723,"vaginismus"],[4607,"vallecula cancer"],[20395,"Valvular pulmonary stenosis","valvar pulmonary stenosis"],[10959,"Van den Ende-Gupta syndrome","Marden-Walker-like syndrome","VDEGS"],[19508,"Van der Woude syndrome","Cleft lip/palate with mucous cysts of lower lip","Lip-pit syndrome","VWS"],[18692,"Variably protease-sensitive prionopathy"],[17810,"Variant ABeta2M amyloidosis","Autosomal dominant beta2-microglobulinic amyloidosis"],[7012,"Variant Creutzfeldt-Jakob disease","Variant MCJ","vCJD"],[1498,"varicocele"],[8297,"Variegate porphyria","Porphyria variegata","Protoporphyrinogen oxidase deficiency"],[971089,"Vasa previa"],[4648,"vascular dementia"],[5385,"vascular disorder"],[17314,"Vascular Ehlers-Danlos syndrome","Arterial-ecchymotic EDS","EDS IV","Ehlers-Danlos syndrome type 4","Sack-Barabas syndrome","Vascular EDS","vEDS","Ehlers-Danlos syndrome, vascular type"],[32688,"Vascular Ehlers-Danlos-polymicrogyria syndrome","Vascular EDS with polymicrogyria","polymicrogyria with or without vascular-type Ehlers-Danlos syndrome"],[2552,"vascular myelopathy"],[956980,"vascular parkinsonism"],[100639,"vasculitic neuropathy"],[6004,"vasomotor rhinitis"],[18148,"Vasoproliferative tumor of the retina","Retinal vasoproliferative tumor","VPTR","Vasoproliferative tumor of the ocular fundus","vasoproliferative tumor of retina"],[35238,"Vegetative pyoderma gangrenosum","Granulomatous pyoderma gangrenosum"],[15196,"Vein of Galen malformation","VOGM","Vein of Galen arteriovenous malformation","vein of Galen aneurysm"],[10925,"Velo-facial-skeletal syndrome"],[8644,"velocardiofacial syndrome"],[6005,"Venezuelan equine encephalitis"],[17876,"Venezuelan hemorrhagic fever","Guanarito hemorrhagic fever"],[18165,"Venous thoracic outlet syndrome","Venous scalenus anticus syndrome","Venous thoracic outlet compression syndrome","Effort subclavian vein thrombosis","Paget-Schrotter disease","VTOS","Venous TOS","Venous cervical rib syndrome","Venous costoclavicular syndrome","Venous hyperabduction syndrome"],[8645,"Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome","Stoll-Kieny-Dott syndrome"],[190,"ventricular fibrillation"],[2070,"ventricular septal defect"],[5477,"ventricular tachycardia"],[9063,"Ventriculomegaly-cystic kidney disease","Congenital nephrosis-cerebral ventriculomegaly syndrome","VMCKD"],[8991,"Verloove Vanhorick-Brubakk syndrome","Cleft lip-limb and heart malformations syndrome"],[2313,"vernal conjunctivitis"],[19085,"Vernal keratoconjunctivitis","Spring catarrh"],[19319,"Verrucous nevus"],[18734,"Verrucous venous malformation","Verrucous haemangioma","Verrucous hemangioma"],[971058,"Verruga peruana","Peruvian warts"],[1258,"vertebral artery occlusion"],[8723,"Very long chain acyl-CoA dehydrogenase deficiency"],[6008,"vestibular neuronitis"],[1569,"Vestibular schwannoma","Acoustic neurilemoma","Acoustic neurinoma","Acoustic neuroma"],[4727,"vestibule of mouth cancer"],[26777,"VEXAS syndrome"],[7447,"Vibratory urticaria","autosomal dominant vibratory urticaria"],[6618,"vibratory urticaria"],[9452,"Vici syndrome","Corpus callosum agenesis-cataract-immunodeficiency syndrome","Dionisi-Vici-Sabetta-Gambarara syndrome"],[19960,"VIPoma","Diarrheogenic islet cell tumor","Pancreatic cholera","VIP-secreting tumor","Verner-Morrison syndrome","WDHA syndrome","Watery diarrhea-hypokalemia-achlorhydria syndrome"],[43541,"viral conjunctivitis"],[6011,"viral hepatitis"],[24318,"viral infection of central nervous system"],[1507,"viral labyrinthitis"],[7015,"viral meningitis"],[23161,"viral myocarditis"],[16126,"Viral myositis"],[23164,"viral pericarditis"],[16455,"Virus-associated trichodysplasia spinulosa","Cyclosporine-induced folliculodystrophy","Pilomatrix dysplasia","TS","Trichodysplasia spinulosa","VATS"],[17217,"Visceral calciphylaxis"],[18677,"Visceral heterotaxy","Heterotaxy","Heterotaxy syndrome"],[5445,"visceral leishmaniasis"],[19133,"Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome"],[1834,"visual pathway disorder"],[18486,"Visual snow syndrome"],[7016,"vitamin A deficiency"],[17214,"Vitamin B12-responsive methylmalonic acidemia","Adenosylcobalamin deficiency","Vitamin B12-responsive methylmalonic aciduria"],[9613,"Vitamin B12-responsive methylmalonic acidemia type cblA","Vitamin B12-responsive methylmalonic aciduria type cblA","methylmalonic aciduria, cblA type"],[9614,"Vitamin B12-responsive methylmalonic acidemia type cblB","Vitamin B12-responsive methylmalonic aciduria, type cblB","methylmalonic aciduria, cblB type"],[17685,"Vitamin B12-responsive methylmalonic acidemia, type cblDv2","Vitamin B12-responsive methylmalonic aciduria, type cblDv2"],[9612,"Vitamin B12-unresponsive methylmalonic acidemia","Methylmalonyl-CoA mutase deficiency","Methylmalonyl-Coenzyme A mutase deficiency","Vitamin B12-unresponsive methylmalonic aciduria","methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency"],[19267,"Vitamin B12-unresponsive methylmalonic acidemia type mut-","Partial deficiency of methylmalonyl-CoA mutase","Vitamin B12-unresponsive methylmalonic aciduria type mut-"],[17360,"Vitamin B12-unresponsive methylmalonic acidemia type mut0","Complete deficiency of methylmalonyl-CoA mutase","Vitamin B12-unresponsive methylmalonic aciduria type mut0"],[100471,"vitamin D deficiency"],[100643,"vitamin deficiency related neuropathy"],[16010,"Vitamin K antagonist embryofetopathy","Vitamin K antagonist embryopathy","Warfarin embryofetopathy","Warfarin embryopathy","di Sala syndrome","vitamin K-antagonist embryofetopathy"],[1244,"vitamin K deficiency hemorrhagic disease"],[8661,"vitiligo"],[1923,"vitreoretinal dystrophy"],[18951,"Vocal cord and pharyngeal distal myopathy","Distal myopathy with vocal cord weakness","MATR3-related distal myopathy","VCPDM"],[18092,"Vogt-Koyanagi-Harada disease","Uveomenigitic syndrome"],[8667,"Von Hippel-Lindau disease","Familial cerebelloretinal angiomatosis","Lindau disease","VHL","Von Hippel-Lindau syndrome"],[9121,"Von Voss-Cherstvoy syndrome","DK phocomelia syndrome","Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome"],[19565,"Von Willebrand disease","Hereditary pseudohaemophilia","Hereditary von Willebrand disease"],[24574,"von Willebrand disease (hereditary or acquired)"],[8668,"Von Willebrand disease type 1","von Willebrand disease 1"],[13304,"Von Willebrand disease type 2","von Willebrand disease 2"],[15628,"Von Willebrand disease type 2A"],[15629,"Von Willebrand disease type 2B"],[15630,"Von Willebrand disease type 2M"],[15631,"Von Willebrand disease type 2N"],[10191,"Von Willebrand disease type 3","von Willebrand disease 3"],[1135,"voyeurism"],[14732,"VPS11-related autosomal recessive hypomyelinating leukodystrophy","VPS11-related autosomal recessive hypomyelinating leukoencephalopathy","leukodystrophy, hypomyelinating, 12"],[1528,"vulva cancer"],[21642,"vulval varices"],[24336,"Vulvar adenocarcinoma","Adenocarcinoma of the vulva"],[2955,"Vulvar basal cell carcinoma","Basal cell carcinoma of vulva","vulva basal cell carcinoma"],[643,"vulvar benign neoplasm"],[5215,"Vulvar carcinoma","Carcinoma of vulva"],[5198,"Vulvar intraepithelial neoplasia","VIN","Vulvar intraepithelial tumor"],[24609,"Vulvar squamous cell carcinoma","Squamous cell carcinoma of the vulva"],[21722,"vulvodynia"],[6014,"vulvovaginal candidiasis"],[19370,"Vulvovaginal gingival syndrome"],[16095,"Vulvovaginal rhabdomyosarcoma","vaginal rhabdomyosarcoma"],[10708,"W syndrome","Pallister-W syndrome"],[18094,"Waardenburg syndrome"],[8670,"Waardenburg syndrome type 1","WS1","Waardenburg syndrome type I"],[19517,"Waardenburg syndrome type 2"],[7862,"Waardenburg syndrome type 3","Klein-Waardenburg syndrome","WS3","Waardenburg syndrome type III","Waardenburg syndrome with limb anomalies"],[19518,"Waardenburg-Shah syndrome"],[18760,"WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome","DESSH","Desanto-Shinawi syndrome"],[7740,"Wagner disease","Dominant hyaloideoretinal dystrophy of Wagner","VCAN-related vitreoretinopathy","Vitreoretinal degeneration, Wagner type","Wagner syndrome"],[8681,"WAGR syndrome","Del(11)(p13)","Deletion 11p13","Monosomy 11p13","Wilms tumor-aniridia-genitourinary anomalies-intellectual disability syndrome"],[100280,"Waldenström macroglobulinemia","Waldenstrom macroglobulinemia"],[4685,"Waldeyer's ring cancer"],[171,"Walker-Warburg syndrome","HARD syndrome","Hydrocephalus-agyria-retinal dysplasia syndrome","WWS","muscular dystrophy-dystroglycanopathy, type A"],[60578,"WARS2-related combined oxidative phosphorylation defect","Mitochondrial tryptophanyl-tRNA synthetase deficiency","neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures"],[13252,"Warsaw breakage syndrome","WABS"],[35473,"Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome","Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome","WILD syndrome"],[19077,"Warty dyskeratoma","Follicular dyskeratoma"],[6015,"Waterhouse-Friderichsen syndrome"],[10193,"Weaver syndrome","EZH2-related overgrowth syndrome"],[18095,"Weaver-Williams syndrome"],[43004,"Weil's disease"],[18096,"Weill-Marchesani syndrome"],[7209,"Weismann-Netter syndrome","Anterior bowing of legs with dwarfism","Toxopachyosteose diaphysaire tibio-peroniere","WNS","Weismann-Netter-Stuhl syndrome"],[32836,"Weiss-Kruszka Syndrome","Metopic ridging-ptosis-facial dysmorphism syndrome"],[17292,"Well-differentiated fetal adenocarcinoma of the lung","WDFA"],[5103,"Well-differentiated liposarcoma","ALT","Atypical lipoma","Atypical lipomatous tumor","WDLS"],[6364,"Well-differentiated papillary mesothelial tumor of the peritoneum","peritoneal well differentiated papillary mesothelioma"],[971140,"Well-differentiated papillary mesothelial tumor of the pleura","well-differentiated papillary mesothelial tumour of the pleura"],[16976,"Well-differentiated thymic neuroendocrine carcinoma"],[19547,"Wells syndrome","Eosinophilic cellulitis"],[10196,"Werner syndrome","Adult progeria","WS"],[7020,"Wernicke encephalopathy"],[2282,"West Nile fever"],[19376,"West-Nile encephalitis","West-Nile fever"],[19380,"Western equine encephalitis","Western equine encephalomyelitis"],[24183,"wet beriberi"],[8000006,"WHIM syndrome","WILM","Warts-hypogammaglobulinemia-infections-myelokathexis syndrome","Warts-infections-leukopenia-myelokatexis syndrome","WHIM syndrome 1"],[5116,"Whipple disease","Intestinal lipodystrophy"],[16447,"White fibrous papulosis of the neck"],[10199,"White forelock with malformations"],[17918,"White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome","Curatolo-Cilio-Pessagno syndrome"],[1827,"white piedra"],[18269,"White platelet syndrome"],[15748,"White sponge nevus","Hereditary mucosal leukokeratosis","White sponge nevus of Cannon"],[14606,"White-Sutton syndrome","Intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome"],[5077,"Whooping cough","Pertussis"],[10758,"Wieacker-Wolff syndrome"],[9910,"Wiedemann-Rautenstrauch syndrome","Neonatal progeroid syndrome"],[11518,"Wiedemann-Steiner syndrome","Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome"],[19440,"Wild type ABeta2M amyloidosis","ABeta2Mwt amyloidosis","Dialysis-related amyloidosis","Dialysis-related arthropathy","Wild type ABeta2-microglobulinic amyloidosis"],[18018,"Wild type ATTR amyloidosis","ATTRwt amyloidosis","ATTRwt-related amyloidosis","Senile systemic amyloidosis","Wild type ATTR-related amyloidosis"],[10759,"Wildervanck syndrome","Cervicooculoacoustic syndrome"],[8678,"Williams syndrome","Deletion 7q11.23","Monosomy 7q11.23","Williams-Beuren syndrome"],[8888,"Williams-Campbell syndrome"],[10200,"Wilson disease","Hepatolenticular degeneration"],[23011,"Wilson-Mikity syndrome"],[10665,"Wilson-Turner syndrome","WTS","X-linked intellectual disability-gynecomastia-obesity syndrome"],[10518,"Wiskott-Aldrich syndrome","Eczema-thrombocytopenia-immunodeficiency syndrome","WAS"],[44699,"Witteveen-Kolk syndrome","SIN3A-related intellectual disability syndrome","WITKOS"],[9192,"Wolcott-Rallison syndrome","Early-onset diabetes mellitus with multiple epiphyseal dysplasia","WRS"],[8684,"Wolf-Hirschhorn syndrome"],[18105,"Wolfram syndrome","Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome","Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome","DIDMOAD syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome","Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome"],[13673,"Wolfram-like syndrome"],[19148,"Wolman disease"],[9419,"Woodhouse-Sakati syndrome","Diabetes-hypogonadism-deafness-intellectual disability syndrome","Diabetes-hypogonadism-hearing loss-intellectual disability syndrome"],[10243,"Woods-Black-Norbury syndrome","X-linked immunoneurologic disorder"],[8686,"Woolly hair","Familial woolly hair syndrome","Familial wooly hair syndrome","Hereditary woolly hair syndrome","Hereditary wooly hair syndrome","Wooly hair","isolated familial wooly hair disorder"],[19311,"Woolly hair nevus","Wooly hair nevus"],[14492,"Woolly hair-palmoplantar keratoderma syndrome","KWWH type IV","Keratoderma with woolly hair type IV","Woolly hair-palmoplantar hyperkeratosis syndrome","wooly hair-palmoplantar keratoderma syndrome"],[11501,"Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia","Suarez-Stickler syndrome"],[859147,"Wormian bones-micrognathia-abnormal dentition-progeroid syndrome","LEMD2-associated nuclear envelopathy with early progeroid appearance","Marbach-Rustad progeroid syndrome"],[8503,"Worster-Drought syndrome","Congenital suprabulbar paresis"],[15803,"Wound botulism","Cutaneous infectious botulism","Cutaneous toxin-mediated botulism","Inoculation botulism","Skin infectious botulism","Skin toxin-mediated botulism"],[15622,"Wound myiasis","Traumatic myiasis"],[10208,"Wrinkly skin syndrome","WSS","Wrinkled skin syndrome"],[8688,"WT limb-blood syndrome"],[19926,"X small rings syndrome","X small rings"],[10491,"X-linked acrogigantism","X-linked acrogigantism due to Xq26 microduplication"],[10264,"X-linked adrenal hypoplasia congenita","X-linked AHC","X-linked congenital adrenal hypoplasia"],[18544,"X-linked adrenoleukodystrophy","ALD","X-ALD","X-linked ALD","adrenoleukodystrophy"],[10421,"X-linked agammaglobulinemia","BTK-deficiency","Bruton type agammaglobulinemia","Bruton-type agammaglobulinemia"],[10519,"X-linked alpha-thalassemia-intellectual disability syndrome","alpha thalassemia-X-linked intellectual disability syndrome"],[10520,"X-linked Alport syndrome"],[10641,"X-linked Alport syndrome-diffuse leiomyomatosis","Xq22.3 microdeletion syndrome","X-linked diffuse leiomyomatosis-Alport syndrome"],[10541,"X-linked calvarial hyperostosis"],[10475,"X-linked central congenital hypothyroidism with late-onset testicular enlargement","IGSF1 deficiency syndrome","X-linked central congenital hypothyroidism with late-onset macroorchidism"],[10683,"X-linked centronuclear myopathy","X-linked myotubular myopathy","XLCNM","XLMTM"],[10247,"X-linked cerebral adrenoleukodystrophy","X-CALD"],[10464,"X-linked cerebral-cerebellar-coloboma syndrome","X-linked intellectual disability, Kroes type","X-linked cerebral-cerebellar-coloboma syndrome syndrome"],[10549,"X-linked Charcot-Marie-Tooth disease type 1","CMT1X","CMTX1","Charcot-Marie-Tooth disease X-linked dominant 1"],[10550,"X-linked Charcot-Marie-Tooth disease type 2","CMTX2","Charcot-Marie-Tooth disease X-linked recessive 2"],[10551,"X-linked Charcot-Marie-Tooth disease type 3","CMT3X","CMTX3","Charcot-Marie-Tooth disease X-linked recessive 3"],[10689,"X-linked Charcot-Marie-Tooth disease type 4","CMT4X","CMTX4","Cowchock syndrome","Charcot-Marie-Tooth disease X-linked recessive 4"],[10699,"X-linked Charcot-Marie-Tooth disease type 5","CMT5X","CMTX5","Charcot-Marie-Tooth disease X-linked recessive 5"],[10479,"X-linked Charcot-Marie-Tooth disease type 6","CMT6X","CMTX6","Charcot-Marie-Tooth disease X-linked dominant 6"],[10560,"X-linked cleft palate and ankyloglossia","cleft palate with or without ankyloglossia, X-linked"],[10485,"X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome","X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome"],[24781,"X-linked combined immunodeficiency due to SASH3 deficiency","X-linked CID due to SASH3 deficiency","immunodeficiency 102"],[10569,"X-linked complicated corpus callosum dysgenesis"],[10446,"X-linked cone dysfunction syndrome with myopia","Bornholm eye disease"],[10614,"X-linked congenital generalized hypertrichosis","Congenital generalized hypertrichosis, Macias-Flores type","Macias Flores-Garcia Cruz-Rivera syndrome"],[10579,"X-linked corneal dermoid","Corneal dystrophy epithelial-short stature syndrome","Guízar Vázquez-Luengas-Muñoz syndrome"],[10305,"X-linked creatine transporter deficiency","Creatine transporter deficiency","SLC6A8 deficiency"],[10338,"X-linked distal spinal muscular atrophy type 3","ATP7A-related distal motor neuropathy","DSMAX","SMAX3","X-linked dHMN3","X-linked dSMA3","X-linked distal hereditary motor neuropathy type 3"],[20603,"X-linked dominant chondrodysplasia punctata","CDPX2","CDPXD","CPXD","Chondrodystrophia calcificans congenita","Conradi-Hünermann-Happle syndrome","X-linked chondrodysplasia punctata type 2","X-linked chondrodysplasia punctata 2"],[10463,"X-linked dominant chondrodysplasia, Chassaing-Lacombe type","X-linked dominant chondrodysplasia-hydrocephaly-microphthalmia syndrome"],[10444,"X-linked dyserythropoietic anemia with abnormal platelets and neutropenia","X-linked dyserythropoetic anemia with abnormal platelets and neutropenia"],[10747,"X-linked dystonia-parkinsonism","DYT3","Lubag","Lubag syndrome","XDP"],[10586,"X-linked Ehlers-Danlos syndrome","X-linked EDS","EDS V","Ehlers-Danlos syndrome type 5"],[10680,"X-linked Emery-Dreifuss muscular dystrophy"],[10426,"X-linked endothelial corneal dystrophy","XECD"],[10339,"X-linked epilepsy-learning disabilities-behavior disorders syndrome","epilepsy, X-linked 1, with variable learning disabilities and behavior disorders"],[10420,"X-linked erythropoietic protoporphyria","X-linked dominant erythropoietic protoporphyria","X-linked dominant protoporphyria","XLDPP","XLPP"],[44702,"X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome"],[18821,"X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability","X-linked facial dysmorphism-short stature-choanal atresia-intellectual disability syndrome limited to females"],[10378,"X-linked hereditary sensory and autonomic neuropathy with deafness","X-linked HSAN with deafness","X-linked HSAN with hearing loss","X-linked auditory neuropathy with peripheral sensory neuropathy type 1","X-linked hereditary sensory and autonomic neuropathy with hearing loss"],[10626,"X-linked hyper-IgM syndrome","HIGM1","Hyper-IgM syndrome due to CD40 ligand deficiency","Hyper-IgM syndrome due to CD40L deficiency","Hyper-IgM syndrome type 1","XHIGM"],[10585,"X-linked hypohidrotic ectodermal dysplasia","Christ-Siemens-Touraine syndrome","XHED"],[10619,"X-linked hypophosphatemia","X-linked hypophosphatemic rickets","XLH","X-linked dominant hypophosphatemic rickets"],[17269,"X-linked ichthyosis syndrome"],[24770,"X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency","DEX","Deficiency in ELF4, X-linked","X-AIDE","X-linked autoinflammatory and immunodeficiency disease associated with ELF4","X-linked immune dysregulation with inflammatory bowel disease due to E74 like ETS transcription factor 4 deficiency","autoinflammatory syndrome, familial, X-linked, Behcet-like 2"],[10402,"X-linked intellectual disability due to GRIA3 mutations","syndromic X-linked intellectual disability 94"],[19032,"X-linked intellectual disability with isolated growth hormone deficiency","MRGH"],[10285,"X-linked intellectual disability, Abidi type","syndromic X-linked intellectual disability Abidi type"],[10284,"X-linked intellectual disability, Armfield type","Armfield syndrome"],[10306,"X-linked intellectual disability, Cabezas type","Cabezas syndrome"],[10483,"X-linked intellectual disability, Cantagrel type"],[15600,"X-linked intellectual disability, Cilliers type","X-linked intellectual disability-microcephaly-testicular failure syndrome"],[19768,"X-linked intellectual disability, Golabi-Ito-Hall type"],[10319,"X-linked intellectual disability, Hedera type","MRXSH","syndromic X-linked intellectual disability Hedera type"],[10417,"X-linked intellectual disability, Najm type","MICPCH","X-linked intellectual disability-microcephaly-pontocerebellar hypoplasia syndrome","syndromic X-linked intellectual disability Najm type"],[10461,"X-linked intellectual disability, Nascimento type","X-linked intellectual disability-nail dystrophy-seizures syndrome","syndromic X-linked intellectual disability Nascimento type"],[19420,"X-linked intellectual disability, Pai type"],[19766,"X-linked intellectual disability, Porteous type"],[10729,"X-linked intellectual disability, Schimke type"],[19421,"X-linked intellectual disability, Seemanova type"],[10277,"X-linked intellectual disability, Shashi type","Syndromic X-linked intellectual disability type 11","syndromic X-linked intellectual disability Shashi type"],[10409,"X-linked intellectual disability, Shrimpton type","MRXS9","syndromic X-linked intellectual disability Shrimpton type"],[10286,"X-linked intellectual disability, Siderius type","syndromic X-linked intellectual disability Siderius type"],[10664,"X-linked intellectual disability, Snyder type","Snyder-Robinson syndrome","syndromic X-linked intellectual disability Snyder type"],[19422,"X-linked intellectual disability, Stevenson type"],[10325,"X-linked intellectual disability, Stocco Dos Santos type"],[19423,"X-linked intellectual disability, Stoll type"],[19769,"X-linked intellectual disability, Sutherland-Haan type"],[15601,"X-linked intellectual disability, Van Esch type"],[10658,"X-linked intellectual disability, Wilson type","syndromic X-linked intellectual disability 12"],[19424,"X-linked intellectual disability-acromegaly-hyperactivity syndrome"],[19430,"X-linked intellectual disability-ataxia-apraxia syndrome"],[10473,"X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome"],[10337,"X-linked intellectual disability-cerebellar hypoplasia syndrome","OPHN1 syndrome","Oligophrenin-1 syndrome"],[18724,"X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome","RPL10-related neurodevelopmental disorder","RPL10-related X-linked intellectual disability"],[10412,"X-linked intellectual disability-craniofacioskeletal syndrome"],[10332,"X-linked intellectual disability-cubitus valgus-dysmorphism syndrome"],[10574,"X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome","Pettigrew Syndrome","AP1S2-related neurodevelopmental disorder","AP1S2-related X-linked intellectual disability","syndromic X-linked intellectual disability 5","X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome"],[10667,"X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome","Prieto-Badia-Mulas syndrome","Prieto syndrome"],[19418,"X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome"],[10500,"X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome","intellectual disability, X-linked, syndromic 33"],[19416,"X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome"],[17614,"X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome"],[18709,"X-linked intellectual disability-hypotonia-movement disorder syndrome"],[18495,"X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency","X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome"],[19419,"X-linked intellectual disability-macrocephaly-macroorchidism syndrome","Johnson syndrome"],[10237,"X-linked intellectual disability-plagiocephaly syndrome","Hyde Forster-McCarthy-Berry syndrome"],[10235,"X-linked intellectual disability-psychosis-macroorchidism syndrome","Lindsay-Burn syndrome","PPM-X"],[10364,"X-linked intellectual disability-retinitis pigmentosa syndrome","Aldred syndrome","Retinitis pigmentosa and intellectual disability due to Xp11.3 microdeletion","Retinitis pigmentosa and intellectual disability due to del(X)(p11.3)","Retinitis pigmentosa and intellectual disability due to monosomy Xp11.3"],[10652,"X-linked intellectual disability-seizures-psoriasis syndrome","Tranebjaerg-Svejgaard syndrome"],[10496,"X-linked intellectual disability-short stature-overweight syndrome"],[10743,"X-linked isolated thrombocytopenia with normal platelets size","thrombocytopenia 1"],[44617,"X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome"],[10716,"X-linked lethal multiple pterygium syndrome"],[10268,"X-linked lissencephaly with abnormal genitalia","X-linked lissencephaly with ambiguous genitalia","X-linked lissencephaly-corpus callosum agenesis-genital anomalies syndrome","XLAG (X-linked lissencephaly with abnormal genitalia) syndrome"],[24551,"X-linked lymphoproliferative disease due to SAP deficiency","X-linked lymphoproliferative disease due to Signaling lymphocyte activation molecule-associated protein deficiency","X-linked lymphoproliferative syndrome type 1","XLP1","X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency","X-linked lymphoproliferative disease due to SH2D1A deficiency"],[10385,"X-linked lymphoproliferative disease due to XIAP deficiency","XIAP deficiency syndrome","XLP2","X-linked lymphoproliferative syndrome type 2"],[10539,"X-linked mandibulofacial dysostosis","Mandibulofacial dysostosis, Toriello type","X-linked branchial arch syndrome","X-linked mandibulofacial dysostosis with limb anomalies"],[17905,"X-linked mendelian susceptibility to mycobacterial diseases","X-linked MSMD"],[18569,"X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome"],[10684,"X-linked myopathy with excessive autophagy","XMEA"],[10401,"X-linked myopathy with postural muscle atrophy","XMPMA"],[10271,"X-linked myotubular myopathy-abnormal genitalia syndrome","Xq28 contiguous gene deletion syndrome"],[19427,"X-linked neurodegenerative syndrome, Bertini type"],[19429,"X-linked neurodegenerative syndrome, Hamel type"],[10404,"X-linked non progressive cerebellar ataxia"],[19586,"X-linked non-syndromic genetic deafness","X-linked non-syndromic sensorineural deafness","X-linked non-syndromic sensorineural hearing loss","Non-syndromic genetic DFNX","X-linked isolated neurosensory deafness","X-linked isolated neurosensory hearing loss","X-linked isolated sensorineural deafness","X-linked isolated sensorineural hearing loss","X-linked non-syndromic genetic hearing loss","X-linked non-syndromic neurosensory deafness","X-linked non-syndromic neurosensory hearing loss","X-linked nonsyndromic hearing loss"],[19181,"X-linked non-syndromic intellectual disability","non-syndromic X-linked intellectual disability"],[18315,"X-linked osteoporosis with fractures"],[10482,"X-linked parkinsonism-spasticity syndrome","XPDS"],[10547,"X-linked progressive cerebellar ataxia"],[21019,"X-linked recessive ocular albinism","OA1","Ocular albinism type 1","Ocular albinism, Nettleship-Falls type","XLOA"],[10523,"X-linked reticulate pigmentary disorder","XLPDR","Familial cutaneous amyloidosis","PDR","Partington disease","X-linked cutaneous amyloidosis"],[10725,"X-linked retinoschisis","X-linked juvenile retinoschisis","XLRS"],[10400,"X-linked scapuloperoneal muscular dystrophy","X-linked SPMD","X-linked scapuloperoneal syndrome"],[10294,"X-linked severe congenital neutropenia"],[10515,"X-linked severe syndromic thoracic aortic aneurysm and dissection","Meester-Loeys syndrome","X-linked severe syndromic TAAD"],[20721,"X-linked sideroblastic anemia","XLSA","X-linked sideroblastic anemia 1"],[10524,"X-linked sideroblastic anemia and spinocerebellar ataxia","Pagon-Bird-Detter syndrome","X-linked sideroblastic anemia with ataxia","XLSA-A"],[10668,"X-linked skeletal dysplasia-intellectual disability syndrome","Christian syndrome","skeletal dysplasia-intellectual disability syndrome"],[10287,"X-linked spastic paraplegia type 16","SPG16","hereditary spastic paraplegia 16"],[10418,"X-linked spastic paraplegia type 34","SPG34","hereditary spastic paraplegia 34"],[17856,"X-linked spasticity-intellectual disability-epilepsy syndrome"],[10529,"X-linked spinocerebellar ataxia type 3","SCAX3","X-linked ataxia-deafness syndrome","X-linked ataxia-hearing loss syndrome"],[10534,"X-linked spinocerebellar ataxia type 4","SCAX4","X-linked ataxia-dementia syndrome"],[10248,"X-linked spondyloepimetaphyseal dysplasia"],[10209,"Xanthinuria type I","XDH deficiency","XO deficiency","XOR deficiency","Xanthine dehydrogenase deficiency","Xanthine oxidase deficiency","Xanthine oxidoreductase deficiency"],[11346,"Xanthinuria type II","XDH and AOX dual deficiency","Xanthine dehydrogenase and xanthine aldehyde oxidase dual deficiency"],[15535,"Xanthoma disseminatum","Montgomery syndrome"],[4718,"xeroderma of eyelid"],[19600,"Xeroderma pigmentosum"],[10214,"Xeroderma pigmentosum variant","XPV","xeroderma pigmentosum variant type"],[16354,"Xeroderma pigmentosum-Cockayne syndrome complex","XP/CS complex"],[8811,"XK aprosencephaly syndrome","Garcia-Lurie syndrome","XK syndrome","XK-aprosencephaly","XK aprosencephaly"],[10455,"XMEN","CID due to MAGT1 deficiency","Combined immunodeficiency due to MAGT1 deficiency","X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia"],[10399,"Xp21 deletion syndrome","chromosome Xp21 deletion syndrome"],[17284,"Xp22.13p22.2 duplication syndrome","Dup(X)(p22)","Dup(X)(p22.13p22.2)","Duplication Xp22"],[15606,"Xp22.3 microdeletion syndrome"],[17794,"Xq12-q13.3 duplication syndrome","Dup(X)(q12-q13.3)","Kaya-Prontera syndrome"],[10558,"Xq21 microdeletion syndrome","choroideremia-deafness-obesity syndrome"],[10507,"Xq25 microduplication syndrome","Dup(X)(q25)","Xq25 microtriplication"],[10467,"Xq27.3q28 duplication syndrome"],[9302,"XY type gonadal dysgenesis-associated anomalies syndrome"],[18273,"XYLT1-CDG","XYLT1-congenital disorder of glycosylation"],[6019,"yaws"],[20502,"Yellow fever","Bronze John","YF","Yellow Jack"],[7024,"Yersinia pseudotuberculosis infection","Y. pseudotuberculosis infection","Yersinia pseudotuberculosis infectious disease"],[5744,"Yolk sac tumor","Endodermal sinus tumor"],[16739,"Yolk sac tumor of central nervous system","Endodermal sinus tumor of CNS","Endodermal sinus tumor of central nervous system","Intracranial endodermal sinus tumor","Intracranial yolk sac tumor","Yolk sac tumor of CNS"],[10220,"Young syndrome","Azoospermia-sinopulmonary infections syndrome","Sinusitis-infertility syndrome"],[17279,"Young-onset Parkinson disease","Early-onset Parkinson disease","YOPD"],[8995,"Yunis-Varon syndrome","Cleidocranial dysplasia-micrognathia-absent thumbs syndrome"],[19949,"Zebra body myopathy"],[13036,"Zechi-Ceide syndrome","Occipital atretic cephalocele-unusual facies-large feet syndrome"],[18861,"Zellweger-like syndrome without peroxisomal anomalies","Ahn-Lerman-Sagie syndrome"],[18661,"Zika virus disease","Zika virus infection","Zika virus infectious disease"],[200,"Zimmermann-Laband syndrome","Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome","Laband syndrome"],[18586,"Zinc-responsive necrolytic acral erythema","Necrolytic acral erythema","NAE"],[19610,"Zollinger-Ellison syndrome","Gastrinoma"],[14936,"ZTTK syndrome","Facial dysmorphism-brain malformations-musculoskeletal abnormalities-intellectual disability syndrome","Zhu-Tokita-Takenouchi-Kim syndrome"],[12351,"Zygodactyly type 1","SD1, Weidenreich type","SD1a","Syndactyly type 1, Weidenreich type","Syndactyly type 1a","Zygodactyly, Weidenreich type"],[17543,"Zygodactyly type 2","SD1, Lueken type","SD1b","Syndactyly type 1, Lueken type","Syndactyly type 1b","Zygodactyly, Lueken type"],[17544,"Zygodactyly type 3","SD1, Montagu type","SD1c","Syndactyly type 1, Montagu type","Syndactyly type 1c","Zygodactyly, Montagu type"],[17545,"Zygodactyly type 4","SD1, Castilla type","SD1d","Syndactyly type 1, Castilla type","Syndactyly type 1d","Zygodactyly, Castilla type"],[19136,"Zygomycosis","Mucormycosis"],[10371,"Åland Islands eye disease","AIED","Forsius-Eriksson syndrome","Forsius-Eriksson type ocular albinism","Aland island eye disease"]]