OBO ID: DOID:3613 |
Term Name: | Canavan disease | Search Ontology: | |
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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. (2) | ||
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Ontology: | Human Disease ( DOID:3613 ) |
OTHER Canavan disease PAGES
ZEBRAFISH MODELS
No data available
PHENOTYPE
No data available
CITATIONS: None
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