atypical Gaucher's disease due to saposin C deficiency - Ontology Browser

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atypical Gaucher's disease due to saposin C deficiency (DOID:0110961)
Annotations: Rat: (2) Mouse: (2) Human: (2) Chinchilla: (2) Bonobo: (2) Dog: (2) Squirrel: (2) Pig: (2) Naked Mole-rat: (2) Green Monkey: (2)

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Child Terms

Gaucher's disease + is-a

atypical Gaucher's disease due to saposin C deficiency

A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. (DO)

Gaucher's disease perinatal lethal

Gaucher's disease type I

Gaucher's disease type II

Gaucher's disease type III +

Gaucher-like Disease

Synonyms
Exact Synonyms:	GDSAPC ; atypical Gaucher disease due to saposin C deficiency
Primary IDs:	MESH:C566435
Alternate IDs:	MIM:610539
Xrefs:	ORDO:309252
Definition Sources:	https://www.ncbi.nlm.nih.gov/pubmed/17919309 "DO" "DO"

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