Term Name: holoprosencephaly 7
Synonyms: HPE7
Definition: A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22.
Ontology: Human Disease [DOID:0110876]   ( DOID:0110876 )

Relationships
is a type of: autosomal dominant disease holoprosencephaly