Metadata | |
---|---|
ID | DOID:0110873 |
Name | holoprosencephaly 9 |
Definition | A holoprosencephaly that has_material_basis_in heterozygous mutation in the GLI2 gene on chromosome 2q14. https://www.ncbi.nlm.nih.gov/pubmed/14581620 |
Xrefs | |
Synonyms |
holoprosencephaly with microphthalmia and first branchial arch anomalies [EXACT] HPE9 [EXACT] pituitary anomalies with holoprosencephaly-like features [EXACT] |
Parent Relationships |
is_a autosomal dominant disease is_a holoprosencephaly |
Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |