ICD-10: G71.13

monogenic disease obsolete physical disorder OBSOLETED TERM Danon disease bulbospinal polio Gamstorp-Wohlfart syndrome hypermethioninemia obsolete Majewski syndrome obsolete Verma-Naumoff syndrome ABCD syndrome ADULT syndrome triple-A syndrome Bamforth-Lazarus syndrome bestrophinopathy Birk-Barel syndrome Bjornstad syndrome Borjeson-Forssman-Lehmann syndrome Bowen-Conradi syndrome electroclinical syndrome childhood electroclinical syndrome vitamin metabolic disorder PSAT deficiency Chanarin-Dorfman syndrome autosomal recessive disease Y-linked monogenic disease Qazi Markouizos syndrome obsolete CLN3 disease adenylosuccinase lyase deficiency schneckenbecken dysplasia Ogden syndrome peroxisomal acyl-CoA oxidase deficiency Kahrizi syndrome mucopolysaccharidosis IX temtamy preaxial brachydactyly syndrome triosephosphate isomerase deficiency IMAGe syndrome spastic ataxia 4 spastic ataxia 5 spinocerebellar ataxia type 21 spinocerebellar ataxia type 25 janus kinase-3 deficiency lambda 5 deficiency familial juvenile hyperuricemic nephropathy musculoskeletal system cancer akinetopsia Kennedy's disease Cogan-Reese syndrome Baraitser-Winter syndrome Van Maldergem syndrome MASA syndrome pontocerebellar hypoplasia type 2C omodysplasia Ohdo syndrome Rapp-Hodgkin syndrome ciliopathy acrorenal syndrome mitochondrial complex III deficiency nuclear type 2 Stormorken syndrome Vici syndrome orofaciodigital syndrome V orofaciodigital syndrome VII chromosomal deletion syndrome chromosome 10q23 deletion syndrome chromosome 15q25 deletion syndrome chromosome 16q22 deletion syndrome chromosome 17p13.1 deletion syndrome chromosome 2p12-p11.2 deletion syndrome chromosome 5q12 deletion syndrome chromosome 16p13.3 duplication syndrome chromosome 17p13.3 duplication syndrome chromosome 17q12 duplication syndrome chromosome 17q21.31 duplication syndrome chromosome 22q13 duplication syndrome Cole-Carpenter syndrome chromosome 5p13 duplication syndrome Desbuquois dysplasia fibrochondrogenesis salt and pepper syndrome Goldberg-Shprintzen syndrome MEDNIK syndrome EAST syndrome Warsaw breakage syndrome lethal congenital contracture syndrome 1 lethal congenital contracture syndrome 2 spinal disease Ritscher-Schinzel syndrome Holzgreve-Wagner-Rehder Syndrome Ritscher-Schinzel syndrome 1 Ritscher-Schinzel syndrome 2 3MC syndrome 1 3MC syndrome 3 Nance-Horan syndrome lethal congenital contracture syndrome 3 lethal congenital contracture syndrome 4 Muenke Syndrome EEC syndrome Wilson-Turner syndrome Christianson syndrome Potocki-Lupski syndrome