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Repository for lectin-assisted multimodality data
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MIRAGE
arthrogryposis multiplex congenita-5
Summary
- Definition
- An arthrogryposis multiplex congenita that has_material_basis_in homozygous or compound heterozygous mutation in the TOR1A gene on chromosome 9q34.
- Super Class
- arthrogryposis multiplex congenita
External Links
- Disease Ontology
- DOID:0080981
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0002342 | Intellectual disability, moderate |
| HP:0002378 | Hand tremor |
| HP:0002643 | Neonatal respiratory distress |
| HP:0002650 | Scoliosis |
| HP:0002751 | Kyphoscoliosis |
| HP:0002804 | Arthrogryposis multiplex congenita |
| HP:0002827 | Hip dislocation |
| HP:0002987 | Elbow flexion contracture |
| HP:0004447 | Poikilocytosis |
| HP:0005272 | Prominent nasolabial fold |
