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

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

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

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

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

childhood encephalopathy due to thiamine pyrophosphokinase deficiency

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

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

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

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

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

moniliform hair syndrome, monilethrix

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

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

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

spondyloepimetaphyseal dysplasia, Strudwick type

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

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

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

EBS2D

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

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