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DOID:3613 - Canavan disease
Disease Ontology Definition:A leukodystrophy characterized by onset in early infancy, atonia of neck muscles, hypotonia, hyperextension of legs and flexion of arms, blindness, severe mental defect, megalocephaly, and death by 18 months on the average that has_material_basis_in homozygous or compound heterozygous mutation in ASPA gene encoding aspartoacylase on chromosome 17p13.
Synonyms: ACY2 DEFICIENCY, AMINOACYLASE 2 DEFICIENCY, ASPA DEFICIENCY, ASPARTOACYLASE DEFICIENCY, ASP DEFICIENCY, CANAVAN-VAN BOGAERT-BERTRAND DISEASE, Spongy degeneration of central nervous system
Xenbase Genes
:
aspa
| MONDO:0010079 - Canavan disease |
| MIM:271900 - CANAVAN DISEASE |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee