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Repository for lectin-assisted multimodality data
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MIRAGE
lethal congenital contracture syndrome
Summary
- Definition
- A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.
- Super Class
- autosomal recessive disease physical disorder syndrome
External Links
- Disease Ontology
- DOID:0060558
- Mondo Disease Ontology
- ORDO
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O43306 | Adenylate cyclase type 6 | |
| P50570 | Dynamin-2 | |
| P78357 | Contactin-associated protein 1 | |
| Q6ZMI3 | Gliomedin | |
| Q86SQ4 | Adhesion G-protein coupled receptor G6 | |
| Q8TD19 | Serine/threonine-protein kinase Nek9 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P21576 | Vacuolar protein sorting-associated protein 1 |
