# Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome

> human disease

**Wikidata**: [Q55782425](https://www.wikidata.org/wiki/Q55782425)  
**Source**: https://4ort.xyz/entity/alport-syndrome-intellectual-disability-midface-hypoplasia-elliptocytosis-syndrome


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis
5. [Identifiers.org](https://registry.identifiers.org/registry/doid)