Autosomal Domit Robinow Syndrome 3
Disease ID: disease_node_17027
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| Dbxref | MIM:616894, ORDO:3107, ORDO:97360 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060254 |
| Data Source | DOID |
| Synonyms | DRS3 |
| Doid Label | autosomal domit Robinow syndrome 3 |
| Doid Description | A Robinow syndrome characterized by autosomal domit 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. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17027 |
| Doid Id | DOID_0060767 |
| Label | Autosomal Domit Robinow Syndrome 3 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)