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| DOID:0110961 | Name | atypical Gaucher's disease due to saposin c deficiency | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. | ||||
| Parent | Is_a | DOID:1926 | |||
| DB_info | Database | OMIM | disease | 610539 | |
| Attribute_of | Gene_by_orthology | WBGene00004993 | |||
| WBGene00004995 |
