Athabaskan brainstem dysgenesis syndrome

Summary

DOID:0050682 - Athabaskan brainstem dysgenesis syndrome

Disease Ontology Definition:A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene.

Synonyms: NAVAJO BRAINSTEM SYNDROME

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: hoxa1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011099 - human HOXA1 syndromes

MONDO:0011099 - human HOXA1 syndromes

MIM:

MIM:601536 - ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS

MIM:601536 - ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), brain disease (is_a)