| Metadata | |
|---|---|
| ID | DOID:0110876 |
| Name | holoprosencephaly 7 |
| Definition | A holoprosencephaly that has_material_basis_in heterozygous mutation in the PTCH1 gene on chromosome 9q22. https://www.ncbi.nlm.nih.gov/pubmed/11941477 |
| Xrefs | |
| Synonyms |
HPE7 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a holoprosencephaly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |