DO_rare_slim NCIthesaurus has material basis in autosomal recessive disease leukodystrophy Canavan disease 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. disease_ontology AMINOACYLASE 2 DEFICIENCY UMLS_CUI:C0206307 SNOMEDCT_US_2025_09_01:80544005 ASP DEFICIENCY MIM:271900 ICD10CM:E75.28 ACY2 DEFICIENCY ASPA DEFICIENCY DOID:3613 ASPARTOACYLASE DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE MESH:D017825 GARD:5984 NCI:C84611 OMIM mapping confirmed by DO. [SN]. Spongy degeneration of central nervous system autosomal recessive inheritance