Intellectual developmental disorder, X-linked 96

Preferred Label : Intellectual developmental disorder, X-linked 96;

Symbol : XLID96;

CISMeF acronym : MRX96;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : MRX96; Mental retardation, X-linked 96;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the synaptophysin gene (SYP, 313475.0001);

Prefixed ID : #300802;

Details

Origin ID

300802;

UMLS CUI

C3275408;

Automatic exact mappings (from CISMeF team)
- SYP wt Allele [NCIt concept]
- X-linked non-syndromic intellectual disability [ORDO Disease]
- non-syndromic X-linked intellectual disability 96 [DO Concept]
- synaptophysin [ORDO Gene]
- synaptophysin [HGNC gene]
DO Cross reference
- non-syndromic X-linked intellectual disability 96 [DO Concept]
Genes related to phenotype
- Synaptophysin [OMIM gene]
HPO term(s)
- Intellectual disability [HPO term]
- Seizure [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]

Keyword's position in hierarchy(ies) :

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