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Glycomics MS raw data Repository
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Glycomics MS Repository for glycan annotations from GlycoWorkbench
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Repository for lectin-assisted multimodality data
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Guidelines
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:0000463 | Anteverted nares |
| HP:0000470 | Short neck |
| HP:0000486 | Strabismus |
| HP:0000508 | Ptosis |
| HP:0000543 | Optic disc pallor |
| HP:0000582 | Upslanted palpebral fissure |
| HP:0000750 | Delayed speech and language development |
| HP:0000878 | 11 pairs of ribs |
| HP:0001181 | Adducted thumb |
| HP:0001188 | Hand clenching |
