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Summary Literature (0)
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 : hoxa1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0011099 - human HOXA1 syndromes

OMIM:
OMIM:601536 - ATHABASKAN BRAINSTEM DYSGENESIS SYNDROME; ABDS

Other Model Organisms: AGR, 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)