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