OBO ID: DOID:0110961
Term Name: atypical Gaucher's disease due to saposin c deficiency Search Ontology:
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 atypical Gaucher's disease due to saposin c deficiency PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PSAP Gaucher disease, atypical 610539
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
Your Input Welcome
We welcome your input and comments. Please use this form to recommend updates to the information in ZFIN. We appreciate as much detail as possible and references as appropriate. We will review your comments promptly.
Please check the highlighted fields and try again.
Thank you for submitting comments. Your input has been emailed to ZFIN curators who may contact you if additional information is required.
Oops. Something went wrong. Please try again later.