atypical Gaucher's disease due to saposin c deficiency

atypical Gaucher's disease due to saposin c deficiency

http://purl.obolibrary.org/obo/DOID_0110961

A Gaucher's disease that has_material_basis_in compound heterozygous mutation in the PSAP gene on chromosome 10q22.1. [ http://purl.obolibrary.org/obo/ECO_0007645 url:https://www.ncbi.nlm.nih.gov/pubmed/17919309 ]

Tree view
Term mappings

Preferred root terms

All terms

This is just here as a test because I lose it

Term information

database cross reference

ORDO:309252
MIM:610539
ICD10CM:E75.2

Subsets

DO_rare_slim

has obo namespace

disease_ontology

DOID:0110961

Term relations

Subclass of:

Gaucher's disease
disease has basis in some structural_variant