Metadata | |
---|---|
ID | DOID:0110872 |
Name | holoprosencephaly 2 |
Definition | A holoprosencephaly that has_material_basis_in mutation in the homeobox-containing SIX3 gene on chromosome 2p21. https://www.ncbi.nlm.nih.gov/pubmed/10369266 |
Xrefs | |
Synonyms |
HPE2 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a holoprosencephaly |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |