Otopalatodigital Syndrome Spectrum Disorder
Disease ID: disease_node_15701
Connections displayed (default: 10).
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| Dbxref | ORDO:364541 |
|---|---|
| Subclassof | DOID_0080006 |
| Data Source | DOID |
| Synonyms | OPD spectrum disorder, OPSD, fronto-otopalatodigital osteodysplasia |
| Doid Label | otopalatodigital syndrome spectrum disorder |
| Doid Description | A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. |
| Disease Node Id | disease_node_15701 |
| Doid Id | DOID_0111782 |
| Label | Otopalatodigital Syndrome Spectrum Disorder |
- Outgoing r'ship
SUBCLASS_OFto/from Bone Development Disease(ID:disease_node_15615) (Disease) - Incoming r'ship
SUBCLASS_OFto/from Osteochondrodysplasias(ID:disease_node_5766) (Disease)