loading...| Preferred Name |
Canavan disease |
|
| Synonyms |
aspartoacylase deficiency spongy degeneration of the brain ACY2 deficiency spongy degeneration of central nervous system aminoacylase 2 deficiency Canavan-VAN Bogaert-Bertrand disease Canavan disease Asp deficiency Canavan-Van Bogaert-Bertrand disease Aspa deficiency Von Bogaert-Bertrand disease spongy degeneration of the central nervous system spongy Degeneration of central nervous system Acy2 deficiency |
|
| Definitions |
A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0010079 |
|
| closeMatch | ||
| database_cross_reference |
MESH:D017825 OMIM:271900 UMLS:C0206307 NANDO:2200834 SCTID:80544005 Orphanet:141 NANDO:1200948 NCIT:C84611 MedDRA:10067608 DOID:3613 GARD:5984 NORD:886 |
|
| definition |
A neurodegenerative disorder; its spectrum varies between severe forms with leukodystrophy, macrocephaly and severe developmental delay, and a very rare mild/juvenile form characterized by mild developmental delay. |
|
| exactMatch |
http://identifiers.org/snomedct/80544005 http://purl.obolibrary.org/obo/Orphanet_141 http://purl.obolibrary.org/obo/NCIT_C84611 http://linkedlifedata.com/resource/umls/id/C0206307 |
|
| has_exact_synonym |
aspartoacylase deficiency spongy degeneration of the brain ACY2 deficiency spongy degeneration of central nervous system aminoacylase 2 deficiency Canavan-VAN Bogaert-Bertrand disease Canavan disease |
|
| has_related_synonym |
Asp deficiency Canavan-Van Bogaert-Bertrand disease Aspa deficiency Von Bogaert-Bertrand disease spongy degeneration of the central nervous system spongy Degeneration of central nervous system Acy2 deficiency |
|
| id |
MONDO:0010079 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#orphanet_rare http://purl.obolibrary.org/obo/mondo/mondo-base#nord_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_disease |
|
| label |
Canavan disease |
|
| notation |
MONDO:0010079 |
|
| prefLabel |
Canavan disease |
|
| see also |
https://rarediseases.info.nih.gov/diseases/5984/canavan-disease |
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| subClassOf | ||
| excluded_subClassOf |