Mental Retardation, Autosomal Dominant 39

Preferred Label : Mental Retardation, Autosomal Dominant 39;

NCIt synonyms : MRD39;

NCIt definition : An autosomal dominant condition caused by mutation(s) in the MYT1L gene, encoding myelin transcription factor 1-like protein. It is characterized by intellectual disability and mild dysmorphic facial features.;

Details

Origin ID

C156309;

UMLS CUI

C4225296;

CISMeF manual mappings
- Intellectual developmental disorder, autosomal dominant 39 [OMIM Phenotype]
Currated CISMeF NLP mapping
- autosomal dominant non-syndromic intellectual disability 39 [DO Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Intellectual developmental disorder, autosomal dominant 39 [OMIM Phenotype]
- autosomal dominant non-syndromic intellectual disability 39 [DO 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
- MYT1L Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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