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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Gaucher's disease +     
atypical Gaucher's disease due to saposin C deficiency  
Gaucher's disease perinatal lethal  
A Gaucher's Disease characterized by perinatal lethality and rapid progression of neurological deterioration that has_material_basis_in homozygous or compound heterozygous mutation in the GBA1 gene on chromosome 1q22. (DO)
Gaucher's disease type I  
Gaucher's disease type II  
Gaucher's disease type III +   
Gaucher-like Disease 

Synonyms
Exact Synonyms: GAUCHER DISEASE, PERINATAL LETHAL ;   Gaucher disease, collodion type ;   Gaucher disease, fetal
Primary IDs: MESH:C564306
Alternate IDs: OMIM:608013
Xrefs: ORDO:85212
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/12838552 "DO" "DO", https://www.ncbi.nlm.nih.gov/pubmed/1437405 "DO" "DO"

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