Intellectual developmental disorder, X-linked 58

Preferred Label : Intellectual developmental disorder, X-linked 58;

Symbol : XLID58;

CISMeF acronym : MRX58;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Mental retardation, X-linked 58; MRX58;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the tetraspanin 7 gene (TSPAN7, 300096.0001);

Prefixed ID : #300210;

Details

Origin ID

300210;

UMLS CUI

C1846174;

Currated CISMeF NLP mapping
- mental retardation, X-Linked 58 [MeSH concept]
- mental retardation, X-Linked 58 [MeSH Supplementary Concept]
DO Cross reference
- non-syndromic X-linked intellectual disability 58 [DO Concept]
Genes related to phenotype
- Tetraspanin 7 [OMIM gene]
HPO term(s)
- Delayed speech and language development [HPO term]
- Dental malocclusion [HPO term]
- Intellectual disability [HPO term]
- Long face [HPO term]
- Myopia [HPO term]
- Narrow face [HPO term]
- Nystagmus [HPO term]
- Short philtrum [HPO term]
- Small nail [HPO term]
- X-linked recessive inheritance [HPO term]
ORDO concept(s)
- X-linked non-syndromic intellectual disability [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- mental retardation, X-Linked 58 [MeSH Supplementary Concept]
- mental retardation, X-Linked 58 [MeSH concept]

Keyword's position in hierarchy(ies) :

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