Mental Retardation, Autosomal Dominant 7

Preferred Label : Mental Retardation, Autosomal Dominant 7;

NCIt synonyms : MRD7;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the DYRK1A gene, encoding dual specificity tyrosine-phosphorylation-regulated kinase 1A. It is characterized by moderate-severe intellectual disability and typical facial dysmorphisms.;

Details

Origin ID

C179708;

UMLS CUI

C5568143;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, autosomal dominant 7 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 7 [DO Concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Dual specificity tyrosine phosphorylation regulated kinase 1A-related intellectual disability syndrome (disorder) [SNOMED CT concept]
- Intellectual developmental disorder, autosomal dominant 7 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- DYRK1A Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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