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Glycan Structure Repository
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Glycoconjugate Repository
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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:0000007 | Autosomal recessive inheritance |
| HP:0000023 | Inguinal hernia |
| HP:0000252 | Microcephaly |
| HP:0000269 | Prominent occiput |
| HP:0000311 | Round face |
| HP:0000343 | Long philtrum |
| HP:0000347 | Micrognathia |
| HP:0000395 | Prominent antihelix |
| HP:0000400 | Macrotia |
| HP:0000431 | Wide nasal bridge |
