# Schimke immuno-osseous dysplasia

> Human disease

**Wikidata**: [Q22938868](https://www.wikidata.org/wiki/Q22938868)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Schimke_syndrome)  
**Source**: https://4ort.xyz/entity/schimke-immuno-osseous-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Mutant chromatin remodeling protein SMARCAL1 causes Schimke immuno-osseous dysplasia
5. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_58700233-acb6-4ea8-911b-b3f474906aaa-2021-07-30T130548.284Z)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000138375/MONDO_0009458)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)