Mental retardation, x-linked, syndromic 10

Preferred Label : Mental retardation, x-linked, syndromic 10;

Obsolete resource : true;

Moved to : 300438;

Alternative titles and symbols : Mrxs10; Chorioathetosis with mental retardation and abnormal behavior; Camr; Mental retardation with chorioathetosis and abnormal behavior;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the 17-beta-hydroxysteroid dehydrogenase x gene(hsd17b10, 300256.0004);

Prefixed ID : 300220;

Détails

Origin ID

300220;

UMLS CUI

C1846168;

Automatic exact mappings (from CISMeF team)
- HSD10 disease, atypical type [ORDO Disease]
Currated CISMeF NLP mapping
- 2 methyl 3 hydroxybutyryl CoA dehydrogenase deficiency [Disease (Nov.)]
- 2-methyl-3-hydroxybutyric aciduria (disorder) [SNOMED CT concept]
- HSD10 disease [ORDO Disease]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ORDO Disease]
- mental retardation, X-Linked, syndromic 10 [MeSH concept]
- mental retardation, X-Linked, syndromic 10 [MeSH Supplementary Concept]
See also inter- (CISMeF)
- Short chain 3-hydroxyacyl-CoA dehydrogenase deficiency [ICD-11 More detail]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked, syndromic 10 [MeSH concept]

Position du mot-clé dans l'(les) arborescence(s) :

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