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contractures, pterygia, and spondylocarpotarsal fusion syndrome
Summary
- Synonym
-
- multiple pterygium syndrome
- Definition
- A syndrome that is characterized by permanently bent fingers, short stature, rocker-bottom or club feet, joints that are bent in a fixed position, union or webbing of the skin between the fingers, and/or webbing of the neck, inside bend of the elbows, back of the knees and armpits.
- Super Class
- monogenic disease syndrome
External Links
- Disease Ontology
- DOID:0080110
- Mondo Disease Ontology
- MeSH
- OMIM
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P22303 | Acetylcholinesterase | |
| Q04446 | 1,4-alpha-glucan-branching enzyme |
