hypertrophic cardiomyopathy type 20, CMH20, cardiomyopathy, hypertrophic, 20, NEXN hypertrophic cardiomyopathy, cardiomyopathy, familial hypertrophic, type 20, cardiomyopathy familial hypertrophic 20, hypertrophic cardiomyopathy caused by mutation in NEXN

22q11.2 Deletion syndrome, pharyngeal pouch syndrome, DiGeorge syndrome, DiGeorge anomaly, DGS, DiGeorge's syndrome, DiGeorge syndrome type 1, DGS1, 22q deletion syndrome(s), Di-George syndrome

myopathy, myofibrillar, type 2, alpha-B crystallinopathy, autosomal dominant distal myopathy caused by mutation in CRYAB, late-onset distal crystallinopathy, myofibrillar myopathy type 2, CRYAB autosomal dominant distal myopathy

Dowling-Degos disease type 1, reticular pigment anomaly of flexures, dark dot disease

juvenile osteochondrosis of hip and/or pelvis, Legg-Perthes disease, Calve - Perthes' disease, pseudocoxalgia, juvenile osteochond-hip/pelvis, juvenile osteochondrosis of hip and pelvis, Legg-Calvé-Perthes disease, Legg-Calve-Perthes symptom, aseptic necrosis of the capital femoral epiphysis, Legg-Calve-Perthes disease, Perthes disease, osteochondritis of the capital femoral epiphysis, osteochondrosis of Legg-Calve-Perthes, Legg-Calve-Perthes syndrome, Perthe's disease, Osteochondrosis of the capital femoral epiphysis, Legg-CALVE-Perthes disease, Legg Calvé Perthes Disease, coxa plana, Pseudocoxalgia

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

IMPDH1 retinitis pigmentosa, retinitis pigmentosa type 10, retinitis pigmentosa caused by mutation in IMPDH1, retinitis pigmentosa 10, RP10

MVA, hyperimmunoglobulin D with periodic fever syndrome, HIDS, MKD, mevalonic aciduria, complete mevalonate kinase deficiency

X-linked dominant erythropoietic protoporphyria, X-linked dominant protoporphyria, erythropoietic protoporphyria, X-linked, XLDPP, XLPP

intellectual disability, autosomal dominant type 15, MRD15, COFFIN-SIRIS syndrome 3, mental retardation, autosomal dominant type 15, SMARCB1-related BAFopathy, Coffin-Siris syndrome caused by mutation in SMARCB1, SMARCB1 Coffin-Siris syndrome, autosomal dominant intellectual disability 15, intellectual disability, autosomal dominant 15, autosomal dominant mental retardation 15, CSS3

amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, UBQLN2 amyotrophic lateral sclerosis, amyotrophic lateral sclerosis 15, amyotrophic lateral sclerosis caused by mutation in UBQLN2, amyotrophic lateral sclerosis type 15, amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, X-linked dominant, ALS15

moniliform hair syndrome, monilethrix

Leber congenital amaurosis type 4, Leber congenital amaurosis 4, Leber congenital amaurosis caused by mutation in AIPL1, AIPL1 Leber congenital amaurosis, LCA4

properdin deficiency, X-linked, properdin deficiency, X-linked, X-linked recessive

LCA9, NMNAT1 Leber congenital amaurosis, Leber congenital amaurosis caused by mutation in NMNAT1, Leber congenital amaurosis type 9, Leber congenital amaurosis 9

spondyloepimetaphyseal dysplasia, Strudwick type

nemaline body disease, nemaline rod myopathy, nemaline myopathy, NEM, rod myopathy, NM

porphyria cutanea tarda, susceptibility to, porphyria cutanea tarda type II, hereditary porphyria cutanea tarda

autosomal dominant isolated sensorineural hearing loss type DFNA, autosomal dominant non-syndromic neurosensory hearing loss type DFNA, autosomal dominant isolated neurosensory hearing loss type DFNA, autosomal dominant nonsyndromic hearing loss, autosomal dominant non-syndromic sensorineural hearing loss type DFNA, autosomal dominant nonsyndromic hearing impairment

EBS2D

cardiomyopathy, dilated, type 1II, CRYAB familial isolated dilated cardiomyopathy, dilated cardiomyopathy type 1II, CMD1II, familial isolated dilated cardiomyopathy caused by mutation in CRYAB