| Metadata | |
|---|---|
| ID | DOID:0110960 |
| Name | Gaucher's disease perinatal lethal |
| Definition | 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. https://www.ncbi.nlm.nih.gov/pubmed/12838552, https://www.ncbi.nlm.nih.gov/pubmed/1437405 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
Fetal Gaucher Disease [EXACT] Gaucher Disease, Collodion Type [EXACT] |
| Parent Relationships |
is_a Gaucher's disease |
| Subclass Logical Relationships |
disease has basis in some structural_variant |