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

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

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

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

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

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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

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

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

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

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

monilethrix, moniliform hair syndrome

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

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

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

spondyloepimetaphyseal dysplasia, Strudwick type

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

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

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

EBS2D

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

immunodeficiency type 14, Activated Phosphoinositide 3-Kinase Delta Syndrome (APDS), immunodeficiency 14A, autosomal dominant, immunodeficiency 14

EBS, generalised severe, generalised severe epidermolysis bullosa simplex, epidermolysis bullosa herpetiformis Dowling-Meara type, EBS, generalized severe, epidermolysis bullosa simplex Dowling-Meara type, EBS-gen sev, epidermolysis bullosa simplex 1A, generalized severe, generalized severe epidermolysis bullosa simplex, EBSDM, epidermolysis bullosa simplex, herpetiformis

leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia, FA2H hereditary spastic paraplegia, autosomal recessive spastic paraplegia 35, hereditary spastic paraplegia type 35, hereditary spastic paraplegia 35, autosomal recessive spastic paraplegia type 35, hereditary spastic paraplegia caused by mutation in FA2H, SPG35