Search Ontology:
Human Disease

atypical Gaucher's disease due to saposin c deficiency

Term ID
DOID:0110961
Synonyms
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
Ontology
Human Disease   ( DOID:0110961 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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