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| Term | Canavan disease | ID (Ontology) | DOID:3613 (Human Disease) |
| 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. | ||
| Also Known As | "ACY2 DEFICIENCY" ; "AMINOACYLASE 2 DEFICIENCY" ; "ASP DEFICIENCY" (for all, see Synonyms field below) | ||
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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No relevant statements available
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autosomal genetic disease |__autosomal recessive disease__ cerebral degeneration | |__leukodystrophy_______________| Canavan disease |
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| Is a |
autosomal recessive disease leukodystrophy |
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External Crossreferences & Linkouts
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GARD:5984 MESH:D017825 MIM:271900 NCI:C84611 SNOMEDCT_US_2023_03_01:80544005 UMLS_CUI:C0206307 |
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