Orofaciodigital Syndrome Xviii
Disease ID: disease_node_19251
Connections displayed (default: 10).
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| Dbxref | MIM:617927, ORDO:508501 |
|---|---|
| Subclassof | DOID_0050737, DOID_4501 |
| Data Source | DOID |
| Synonyms | Oral-facial-digital syndrome type 18, Oral-facial-digital syndrome with short stature and brachymesophalangy, Orofaciodigital syndrome type 18 |
| Doid Label | orofaciodigital syndrome XVIII |
| Doid Description | An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. |
| Has Material Basis In | GENO_0000148 |
| Disease Node Id | disease_node_19251 |
| Doid Id | DOID_0060961 |
| Label | Orofaciodigital Syndrome Xviii |
- Outgoing r'ship
SUBCLASS_OFto/from Orofaciodigital Syndromes(ID:disease_node_5739) (Disease) - Outgoing r'ship
SUBCLASS_OFto/from Autosomal Recessive Disease(ID:disease_node_13241) (Disease)