OBO ID: DOID:0050682
Term Name: Athabaskan brainstem dysgenesis syndrome Search Ontology:
Synonyms:
  • NAVAJO BRAINSTEM SYNDROME
Definition: An autosomal recessive disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. (2)
References:
Ontology: Human Disease   (DOID:0050682)
Relationships
is a type of:
OTHER Athabaskan brainstem dysgenesis syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
HOXA1 Bosley-Salih-Alorainy syndrome 601536
Athabaskan brainstem dysgenesis syndrome 601536
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None