Gaucher'S Disease Perinatal Lethal
Disease ID: disease_node_20492
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| Dbxref | ICD10CM:E75.2, MIM:608013, ORDO:85212 |
|---|---|
| Subclassof | DOID_1926 |
| Data Source | DOID |
| Synonyms | Fetal Gaucher Disease, Gaucher Disease, Collodion Type |
| Doid Label | Gaucher's disease perinatal lethal |
| Doid Description | A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. |
| Disease Node Id | disease_node_20492 |
| Doid Id | DOID_0110960 |
| Disease Has Basis In | SO_0001537 |
| Label | Gaucher'S Disease Perinatal Lethal |
- Outgoing r'ship
SUBCLASS_OFto/from Gaucher Disease(ID:disease_node_3415) (Disease)