loading...| Preferred Name |
Gaucher's disease type III |
|
| Synonyms |
Gaucher Disease, Juvenile And Adult, Cerebral GD III |
|
| Definitions |
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110959 |
|
| database_cross_reference |
ICD10CM:E75.2 OMIM:231000 ORDO:77261 |
|
| definition |
A Gaucher's disease characterized by later onset and slower progession of neurological deterioration compared to type II that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
|
| has exact synonym |
Gaucher Disease, Juvenile And Adult, Cerebral Gaucher Disease, Subacute Neuronopathic Type Gaucher Disease, Chronic Neuronopathic Type GD III |
|
| has material basis in | ||
| has_obo_namespace |
disease_ontology |
|
| id |
DOID:0110959 |
|
| in_subset | ||
| label |
Gaucher's disease type III |
|
| notation |
DOID:0110959 |
|
| prefLabel |
Gaucher's disease type III |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/DOID_0110959 | DOID | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0110959 | HHEAR | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0110959 | FNS-H | SAME_URI | |
| http://purl.obolibrary.org/obo/DOID_0110959 | DOID | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0110959 | HHEAR | LOOM | |
| http://purl.obolibrary.org/obo/DOID_0110959 | FNS-H | LOOM | |
| http://purl.bioontology.org/ontology/MEDDRA/10075699 | MEDDRA | LOOM |