# holoprosencephaly 7

> holoprosencephaly that has material basis in heterozygous mutation in the PTCH1 gene on chromosome 9q22

**Wikidata**: [Q32144181](https://www.wikidata.org/wiki/Q32144181)  
**Source**: https://4ort.xyz/entity/holoprosencephaly-7


## References

1. Disease Ontology
2. Monarch Disease Ontology release 2018-06-29
3. UniProt
4. Mutations in PATCHED-1, the receptor for SONIC HEDGEHOG, are associated with holoprosencephaly
5. [Identifiers.org](http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233)