| Metadata | |
|---|---|
| ID | DOID:0060765 |
| Name | autosomal dominant Robinow syndrome 2 |
| Definition | A Robinow syndrome characterized by autosomal dominant inheritance of mesomelic limb shortening, genital hypoplasia, and distinctive facial features that has_material_basis_in heterozygous mutation in the DVL1 gene on chromosome 1p36. https://www.ncbi.nlm.nih.gov/pubmed/26924530, https://www.ncbi.nlm.nih.gov/pubmed/25817014 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DRS2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a Robinow syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |