loading...| Preferred Name |
CANAVAN DISEASE |
| Synonyms |
ASPARTOACYLASE DEFICIENCY |
| ID |
http://purl.bioontology.org/ontology/OMIM/271900 |
| altLabel |
ASPARTOACYLASE DEFICIENCY ACY2 DEFICIENCY CANAVAN-VAN BOGAERT-BERTRAND DISEASE SPONGY DEGENERATION OF CENTRAL NERVOUS SYSTEM AMINOACYLASE 2 DEFICIENCY ASPA DEFICIENCY ASP DEFICIENCY |
| cui |
C0206307 |
| Gene Locus |
17pter-p13 |
| Gene Symbol |
ASPA |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU036360 http://purl.bioontology.org/ontology/OMIM/MTHU004625 http://purl.bioontology.org/ontology/OMIM/MTHU000235 http://purl.bioontology.org/ontology/OMIM/MTHU009238 http://purl.bioontology.org/ontology/OMIM/MTHU009236 http://purl.bioontology.org/ontology/OMIM/MTHU009234 http://purl.bioontology.org/ontology/OMIM/MTHU009240 http://purl.bioontology.org/ontology/OMIM/MTHU002823 http://purl.bioontology.org/ontology/OMIM/MTHU005283 http://purl.bioontology.org/ontology/OMIM/MTHU009235 http://purl.bioontology.org/ontology/OMIM/MTHU009233 http://purl.bioontology.org/ontology/OMIM/MTHU009239 http://purl.bioontology.org/ontology/OMIM/MTHU008396 http://purl.bioontology.org/ontology/OMIM/MTHU009237 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
271900 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
CANAVAN DISEASE |
| Scope Statement |
Onset of symptoms at 2-4 months [MISCELLANEOUS] Caused by mutation in the aspartoacylase gene (ASPA, 608034.0001) [MOLECULAR BASIS] Normal first month [MISCELLANEOUS] Prevalent in Ashkenazi Jews [MISCELLANEOUS] Death within first decade [MISCELLANEOUS] |
| tui |
T047 |