| Metadata | |
|---|---|
| ID | DOID:0110961 |
| Name | atypical Gaucher's disease due to saposin c deficiency |
| Definition | A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. https://www.ncbi.nlm.nih.gov/pubmed/17919309 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Parent Relationships |
is_a Gaucher's disease |