Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type

Preferred Label : Intellectual Developmental Disorder, X-Linked, Syndromic, Nascimento Type;

NCIt synonyms : MRXSN;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the UBE2A gene, encoding ubiquitin-conjugating enzyme E2 A. It is characterized by facial dysmorphisms and intellectual impairment.;

Details

Origin ID

C202069;

UMLS CUI

C3275464;

Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, nascimento type [OMIM Phenotype]
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- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
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- Rare Lesion [NCIt concept]
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- UBE2A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

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