| Metadata | |
|---|---|
| ID | DOID:0110875 |
| Name | holoprosencephaly 3 |
| Definition | A holoprosencephaly that has_material_basis_in heterozygous mutation in the SHH gene on chromosome 7q36. https://www.ncbi.nlm.nih.gov/pubmed/8896572 |
| Xrefs | |
| Synonyms |
HLP3 [EXACT] HPE3 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a holoprosencephaly |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |