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omodysplasia 1
Summary
- Definition
- An omodysplasia that is characterized by severe congenital micromelia with shortening and distal tapering of the humeri and femora to give a club-like appearance and that has_material_basis_in homozygous or compound heterozygous mutation in the GPC6 gene on chromosome 13q32.
- Super Class
- autosomal recessive disease omodysplasia
External Links
- Disease Ontology
- DOID:0080844
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0009756 | Popliteal pterygium |
| HP:0003038 | Fibular hypoplasia |
| HP:0000581 | Blepharophimosis |
| HP:0012368 | Flat face |
| HP:0001631 | Atrial septal defect |
| HP:0008873 | Disproportionate short-limb short stature |
| HP:0000431 | Wide nasal bridge |
| HP:0005060 | Limited elbow flexion/extension |
| HP:0000272 | Malar flattening |
| HP:0005792 | Short humerus |
