Search Ontology:
Human Disease
atypical Gaucher's disease due to saposin c deficiency
- Term ID
- DOID:0110961
- Synonyms
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- 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
- References
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- ICD10CM:E75.2
- MIM:610539
- ORDO:309252
- Ontology
- Human Disease ( DOID:0110961 )
- is a type of
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Genes Involved
Zebrafish Models