# Shwachman-Diamond syndrome

> syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities

**Wikidata**: [Q1970052](https://www.wikidata.org/wiki/Q1970052)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Shwachman–Diamond_syndrome)  
**Source**: https://4ort.xyz/entity/shwachman-diamond-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. Freebase Data Dumps. 2013
4. UniProt
5. Mutations in SBDS are associated with Shwachman-Diamond syndrome
6. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/7c2a84f0-e42d-487f-a2af-5b536a30d30c--2020-01-21T17:35:47)
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/7c2a84f0-e42d-487f-a2af-5b536a30d30c--2020-07-30T21:04:01)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_7c2a84f0-e42d-487f-a2af-5b536a30d30c-2020-07-30T210401.699Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000126524/MONDO_0009833)
10. YSO-Wikidata mapping project
11. [Identifiers.org](https://registry.identifiers.org/registry/doid)