OBO ID: DOID:0070073
Term Name: autosomal dominant intellectual developmental disorder 43 Search Ontology:
Synonyms:
  • autosomal dominant mental retardation 43
  • autosomal dominant non-syndromic intellectual disability 43
  • MRD43
Definition: An autosomal dominant intellectual developmental disorder that has_material_basis_in an autosomal dominant mutation of the HIVEP2 gene on chromosome 6q24.2. https://www.ncbi.nlm.nih.gov/pubmed/27003583
References:
Ontology: Human Disease   ( DOID:0070073 )
OTHER autosomal dominant intellectual developmental disorder 43 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HIVEP2 Intellectual developmental disorder, autosomal dominant 43 616977
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None