Autosomal Recessive Robinow Syndrome
Disease ID: disease_node_17030
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| Dbxref | MIM:268310, ORDO:1507 |
|---|---|
| Subclassof | DOID_0050737, DOID_0060254 |
| Data Source | DOID |
| Synonyms | COVESDEM syndrome, RRS, costovertebral segmentation defect-mesomelia syndrome |
| Doid Label | autosomal recessive Robinow syndrome |
| Doid Description | A Robinow syndrome characterized by autosomal recessive inheritance of severe skeletal dysplasia characterized by dysmorphic facial features, including frontal bossing, hypertelorism, and broad nose, short-limbed dwarfism, vertebral segmentation, and genital hypoplasia that has_material_basis_in homozygous or compound heterozygous mutations in the ROR2 gene on chromosome 9q22. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_17030 |
| Doid Id | DOID_0060764 |
| Label | Autosomal Recessive Robinow Syndrome |
- Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)