Link to this page
Human Health Exposure Analysis Resource
Last uploaded:
July 19, 2024
Jump to:
| Preferred Name | Gaucher's disease type II | |
| Synonyms |
Infantile Cerebral Gaucher Disease Gaucher Disease, Acute Neuronopathic Type GD2 GD II |
|
| Definitions |
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
|
| ID |
http://purl.obolibrary.org/obo/DOID_0110958 |
|
| alternative label |
Infantile Cerebral Gaucher Disease Gaucher Disease, Acute Neuronopathic Type GD2 GD II
|
|
| database_cross_reference |
ICD10CM:E75.2 MIM:230900 ORDO:77260
|
|
| definition |
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
|
|
| disease has basis in | ||
| has exact synonym |
Infantile Cerebral Gaucher Disease Gaucher Disease, Acute Neuronopathic Type GD2 GD II
|
|
| has_obo_namespace |
disease_ontology
|
|
| id |
DOID:0110958
|
|
| in_subset | ||
| label |
Gaucher's disease type II
|
|
| notation |
DOID:0110958
|
|
| note |
A Gaucher's disease characterized by rapid neurologic deterioration with cranial nerve and extrapyramidal tract involvement that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22.
|
|
| preferred label |
Gaucher's disease type II
|
|
| prefLabel |
Gaucher's disease type II
|
|
| subClassOf |
Add comment
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |
Create mapping