Mental Retardation, Autosomal Dominant 1

Preferred Label : Mental Retardation, Autosomal Dominant 1;

NCIt synonyms : MRD1;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures.;

Details

Origin ID

C141424;

UMLS CUI

C1969562;

Currated CISMeF NLP mapping
- Intellectual developmental disorder, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 1 [DO Concept]
- mental retardation, autosomal dominant 1 [MeSH concept]
- mental retardation, autosomal dominant 1 [MeSH Supplementary Concept]
Semantic type(s)
- Mental or Behavioral Dysfunction [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, autosomal dominant 1 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 1 [DO Concept]
- mental retardation, autosomal dominant 1 [MeSH Supplementary Concept]
- mental retardation, autosomal dominant 1 [MeSH concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- MBD5 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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