# sitosterolemia

> rare autosomal recessively inherited lipid metabolic disorder

**Wikidata**: [Q1336034](https://www.wikidata.org/wiki/Q1336034)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Sitosterolemia)  
**Source**: https://4ort.xyz/entity/sitosterolemia


## References

1. [Source](https://ddrare.nibiohn.go.jp/)
2. Disease Ontology
3. Monarch Disease Ontology release 2018-06-29
4. Freebase Data Dumps. 2013
5. UniProt
6. Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters
7. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/af59edc2-1148-4dca-b804-192639017b65--2020-07-14T20:28:06)
8. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_af59edc2-1148-4dca-b804-192639017b65-2020-07-14T202806.911Z)
9. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000143921/MONDO_0008863)
10. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/c52c7403-8975-4a3f-8796-a966e977f708--2020-07-10T16:00:00)
11. [ClinGen](https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_c52c7403-8975-4a3f-8796-a966e977f708-2020-07-10T160000.000Z)
12. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000138075/MONDO_0008863)
13. [Identifiers.org](https://registry.identifiers.org/registry/doid)