Intellectual developmental disorder, X-linked 72

Preferred Label : Intellectual developmental disorder, X-linked 72;

Symbol : XLID72;

CISMeF acronym : MRX72;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX72; Mental retardation, X-linked 72;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the Ras-associated protein RAB39B (300774.0001);

Prefixed ID : #300271;

Details

Origin ID

300271;

UMLS CUI

C1846038;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 72 [MeSH concept]
- mental retardation, X-Linked 72 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 72 [DO Concept]
Genes related to phenotype
- Rab39b, member ras oncogene family [OMIM gene]
HPO term(s)
- Autistic behavior [HPO term]
- Dolichocephaly [HPO term]
- Global developmental delay [HPO term]
- Hyperactivity [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Macrocephaly [HPO term]
- Seizure [HPO term]
- Short stature [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 72 [MeSH Supplementary Concept]
- mental retardation, X-Linked 72 [MeSH concept]

Keyword's position in hierarchy(ies) :

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