Metadata | |
---|---|
ID | DOID:0110878 |
Name | holoprosencephaly 5 |
Definition | A holoprosencephaly that has_material_basis_in heterozygous mutation in the ZIC2 gene on chromosome 13q32. https://www.ncbi.nlm.nih.gov/pubmed/9771712 |
Xrefs | |
Synonyms |
HPE5 [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a holoprosencephaly |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |