# Athabaskan brainstem dysgenesis syndrome

> Human disease

**Wikidata**: [Q18553396](https://www.wikidata.org/wiki/Q18553396)  
**Wikipedia**: [English](https://en.wikipedia.org/wiki/Athabaskan_brainstem_dysgenesis_syndrome)  
**Source**: https://4ort.xyz/entity/athabaskan-brainstem-dysgenesis-syndrome


## References

1. Disease Ontology
2. Homozygous HOXA1 mutations disrupt human brainstem, inner ear, cardiovascular and cognitive development
3. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000105991/Orphanet_69739)
4. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)
5. UMLS 2023