Mental Retardation, Autosomal Dominant 40

Preferred Label : Mental Retardation, Autosomal Dominant 40;

NCIt synonyms : MRD40;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the CHAMP1 gene, encoding chromosome alignment-maintaining phosphoprotein 1. It is characterized by moderate to severe intellectual disability with poor speech acquisition. Variable dysmorphic features may be present as well.;

Details

Origin ID

C163754;

UMLS CUI

C4225275;

Currated CISMeF NLP mapping
- Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 40 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Neurodevelopmental disorder with hypotonia, impaired language, and dysmorphic features [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
- CHAMP1 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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