Search Ontology:
Human Disease

Canavan disease

Term ID
DOID:3613
Synonyms
  • ACY2 DEFICIENCY
  • AMINOACYLASE 2 DEFICIENCY
  • ASP DEFICIENCY
  • ASPA DEFICIENCY
  • ASPARTOACYLASE DEFICIENCY
  • CANAVAN-VAN BOGAERT-BERTRAND DISEASE
  • Spongy degeneration of central nervous system
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)
References
Ontology
Human Disease   ( DOID:3613 )
Relationships
is a type of
Other Pages
Genes Involved
Zebrafish Models