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

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

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

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

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

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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

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

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

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

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

moniliform hair syndrome, monilethrix

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

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

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

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

EBS2D

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