# Gaucher's disease

> human disease characterized by deficiency of the enzyme glucocerebrosidase which results in the accumulation of harmful quantities of the glycolipid glucocerebroside throughout the body

**Wikidata**: [Q861645](https://www.wikidata.org/wiki/Q861645)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Gaucher's_disease)  
**Source**: https://4ort.xyz/entity/gaucher-s-disease


## References

1. [Source](https://github.com/JohnMarkOckerbloom/ftl/blob/master/data/wikimap)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. PubMed
6. [Source](http://www.patient.co.uk/patientplus/g.htm)
7. Klinická neurologie část speciální
8. NDF-RT
9. Drug Indications Extracted from FAERS
10. [Inxight: Drugs Database](https://drugs.ncats.io/drug/ADN3S497AZ)
11. [Phenocarta](https://gemma.msl.ubc.ca/phenotypes.html?phenotypeUrlId=DOID_1926&ncbiId=4916)
12. A mutation in the human glucocerebrosidase gene in neuronopathic Gaucher's disease
13. Gaucher disease (Norrbottnian type III): probable founders identified by genealogical and molecular studies
14. The clinical, molecular, and pathological characterisation of a family with two cases of lethal perinatal type 2 Gaucher disease
15. Unusual expression of Gaucher's disease: cardiovascular calcifications in three sibs homozygous for the D409H mutation.
16. Genetic heterogeneity in type 1 Gaucher disease: multiple genotypes in Ashkenazic and non-Ashkenazic individuals
17. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/fbc5a876-f97e-4f9c-be99-664e2f6c8470--2020-06-24T16:00:00)
18. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_fbc5a876-f97e-4f9c-be99-664e2f6c8470-2020-06-24T160000.000Z)
19. Mutation in the sphingolipid activator protein 2 in a patient with a variant of Gaucher disease
20. [Identifiers.org](https://registry.identifiers.org/registry/doid)
21. [OpenAlex](https://docs.openalex.org/download-snapshot/snapshot-data-format)