Autosomal Domit Robinow Syndrome 1
Disease ID: disease_node_17028
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| Dbxref | MIM:180700, ORDO:3107 |
|---|---|
| Subclassof | DOID_0050736, DOID_0060254 |
| Data Source | DOID |
| Synonyms | DRS1 |
| Doid Label | autosomal domit Robinow syndrome 1 |
| Doid Description | A Robinow syndrome characterized by autosomal domit inheritance of dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external genitalia in males, and renal and vertebral anomalies that has_material_basis_in heterozygous mutation in the WNT5A gene on chromosome 3p. |
| Has Material Basis In | GENO_0000147 |
| Disease Node Id | disease_node_17028 |
| Doid Id | DOID_0060766 |
| Label | Autosomal Domit Robinow Syndrome 1 |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Domit Disease(ID:disease_node_13255) (Disease)