| Metadata | |
|---|---|
| ID | DOID:0060767 |
| Name | autosomal dominant Robinow syndrome 3 |
| Definition | A Robinow syndrome characterized by autosomal dominant inheritance of mesomelia, genital hypoplasia, and distinctive facial features comprising frontal bossing, prominent eyes, and a depressed nasal bridge that has_material_basis_in heterozygous mutation in the DVL3 gene on chromosome 3q27. https://www.ncbi.nlm.nih.gov/pubmed/26924530 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DRS3 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Robinow syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |