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

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

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

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

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

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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

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

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

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

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

monilethrix, moniliform hair syndrome

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

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

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

spondyloepimetaphyseal dysplasia, Strudwick type

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

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

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

EBS2D