Athabaskan brainstem dysgenesis syndrome

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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

Echinobase 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

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)