# hypomyelinating leukodystrophy 7 with or without oligodontia and-or hypogonadotropic hypogonadism

> Human disease

**Wikidata**: [Q28065599](https://www.wikidata.org/wiki/Q28065599)  
**Source**: https://4ort.xyz/entity/hypomyelinating-leukodystrophy-7-with-or-without-oligodontia-and-or-hypogonadotropic-hypogonadism


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. Mutations of POLR3A encoding a catalytic subunit of RNA polymerase Pol III cause a recessive hypomyelinating leukodystrophy
4. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148606/MONDO_0019177)
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000148606/Orphanet_137639)
6. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000108001/Orphanet_137639)
7. [Identifiers.org](https://registry.identifiers.org/registry/doid)
8. UMLS 2023