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DOID:0050754 - ataxia with oculomotor apraxia type 1
Disease Ontology Definition:An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene.
Synonyms:
Xenbase Genes : aptx
MONDO:0008842 - ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal recessive cerebellar ataxia (is_a)