Holoprosencephaly 3

Definition

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

Also known as HLP3, holoprosencephaly 3, holoprosencephaly caused by mutation in SHH, holoprosencephaly type 3, HPE3, SHH holoprosencephaly — per MONDO

Also identified as

• DOID 0110875 per MONDO
• MESH C564181 per MONDO
• OMIM 142945 per MONDO
• UMLS C1840529 per MONDO