spastic ataxia 4 Disease Ontology Browser

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Disease Ontology Browser

spastic ataxia 4 (DOID:0050943)
Alliance: disease page
Alt IDs: OMIM:613672
Definition: A spastic ataxia that is characterized by cerebellar ataxia, spasticity, dysarthria and optic atrophy, has_material_basis_in homozygous mutation in the MTPAP gene on chromosome 10p11.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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