Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type

Preferred Label : Intellectual Developmental Disorder, X-linked, Syndromic, Bain Type;

NCIt synonyms : MRXSB; Bain Type of X-linked Syndromic Intellectual Disability;

NCIt definition : An X-linked dominant condition caused by mutation(s) in the HNRNPH2 gene, encoding heterogeneous nuclear ribonucleoprotein H2. It is characterized by delayed psychomotor development, intellectual disability with behavioral abnormalities, and dysmorphic facial features in females.;

NCI Metathesaurus CUI : CL602436;

Details

Origin ID

C183311;

UMLS CUI

C4310814;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, X-linked, syndromic, bain type [OMIM Phenotype]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, X-linked, syndromic, bain type [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- HNRNPH2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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