| Metadata | |
|---|---|
| ID | DOID:0111544 |
| Name | Guttmacher syndrome |
| Definition | A syndrome characterized by preaxial deficiencies of the hands and feet, postaxial polydactyly of the hands, and hypospadias that has_material_basis_in heterozygous mutation in the HOXA13 gene on chromosome 7p15.2. https://www.ncbi.nlm.nih.gov/pubmed/8484413, https://www.ncbi.nlm.nih.gov/pubmed/11968094 |
| Xrefs |
SNOMEDCT_US_2023_03_01:722452004 |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant preaxial deficiency, postaxial polydactyly, and hypospadias [EXACT] preaxial deficiency-postaxial polydactyly-hypospadias syndrome [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |