Canavan Disease
Disease ID: disease_node_9337
Connections displayed (default: 10).
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| Dbxref | GARD:5984, MESH:D017825, MIM:271900, NCI:C84611, SNOMEDCT_US_2023_03_01:80544005, UMLS_CUI:C0206307 |
|---|---|
| Subclassof | DOID_0050737, DOID_10579 |
| Data Source | DOID, MESH |
| Synonyms | ACY2 DEFICIENCY, AMINOACYLASE 2 DEFICIENCY, ASP DEFICIENCY, ASPA DEFICIENCY, ASPARTOACYLASE DEFICIENCY, CANAVAN-VAN BOGAERT-BERTRAND DISEASE, Spongy degeneration of central nervous system |
| Mesh Id | D017825 |
| Mesh Label | Canavan Disease |
| Mesh Subclassof | D020279, D020271 |
| Doid Label | Canavan disease |
| Doid Description | 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. OMIM mapping confirmed by DO. [SN]. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_9337 |
| Doid Id | DOID_3613 |
| Label | Canavan Disease |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Leukodystrophy(ID:disease_node_19911) (Disease)