# congenital adrenal insufficiency

> Human disease

**Wikidata**: [Q18553299](https://www.wikidata.org/wiki/Q18553299)  
**Source**: https://4ort.xyz/entity/congenital-adrenal-insufficiency


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Heterozygous mutation in the cholesterol side chain cleavage enzyme (p450scc) gene in a patient with 46,XY sex reversal and adrenal insufficiency
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000140459/MONDO_0013400)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000140459/Orphanet_168558)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023