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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
proximal symphalangism
Summary
- Synonym
-
- Cushing's symphalangism
- Definition
- A syndrome that is characterized by ankylosis of the proximal interphalangeal joints, carpal and tarsal bone fusion, and conductive deafness.
- Super Class
- autosomal dominant disease bone disease syndrome
External Links
- Disease Ontology
- DOID:0050788
- Mondo Disease Ontology
- ORDO
- OMIM
- GARD
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P34741 | Syndecan-2 | |
| P98160 | Basement membrane-specific heparan sulfate proteoglycan core protein |
