loading...| Preferred Name |
Canavan disease |
|
| Synonyms |
ASPARTOACYLASE DEFICIENCY ACY2 DEFICIENCY ASPA DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY Spongy degeneration of central nervous system |
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| Definitions |
OMIM mapping confirmed by DO. [SN]. 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. |
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| ID |
http://purl.obolibrary.org/obo/DOID_3613 |
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| comment |
OMIM mapping confirmed by DO. [SN]. |
|
| database_cross_reference |
SNOMEDCT_US_2023_03_01:80544005 MESH:D017825 UMLS_CUI:C0206307 OMIM:271900 GARD:5984 NCI:C84611 |
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| has exact synonym |
ASPARTOACYLASE DEFICIENCY ACY2 DEFICIENCY ASPA DEFICIENCY AMINOACYLASE 2 DEFICIENCY ASP DEFICIENCY Spongy degeneration of central nervous system CANAVAN-VAN BOGAERT-BERTRAND DISEASE |
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| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:3613 |
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| in_subset | ||
| label |
Canavan disease |
|
| notation |
DOID:3613 |
|
| prefLabel |
Canavan disease |
|
| textual 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. |
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| subClassOf |