# acrocapitofemoral dysplasia

> Human disease

**Wikidata**: [Q18553334](https://www.wikidata.org/wiki/Q18553334)  
**Source**: https://4ort.xyz/entity/acrocapitofemoral-dysplasia


## References

1. Monarch Disease Ontology release 2018-06-29
2. Disease Ontology
3. UniProt
4. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips
5. [Open Targets Platform](https://platform.opentargets.org/evidence/ENSG00000163501/MONDO_0011907)
6. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)