Holoprosencephaly 7

Definition

Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene.

Also known as holoprosencephaly 7, holoprosencephaly caused by mutation in PTCH1, holoprosencephaly type 7, HPE7, PTCH1 holoprosencephaly — per MONDO

Also identified as

• DOID 0110876 per MONDO
• MESH C563660 per MONDO
• OMIM 610828 per MONDO
• UMLS C1835820 per MONDO