Holoprosencephaly 5

Definition

Holoprosencephaly associated with mutations in the ZIC2 gene.

Also known as holoprosencephaly 5, holoprosencephaly caused by mutation in ZIC2, holoprosencephaly type 5, HPE5, ZIC2 holoprosencephaly — per MONDO

Also identified as

• DOID 0110878 per MONDO
• MESH C566464 per MONDO
• NCIT C75460 per MONDO
• OMIM 609637 per MONDO
• UMLS C1864827 per MONDO