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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:0003027 | Mesomelia |
| HP:0000347 | Micrognathia |
| HP:0005025 | Hypoplastic distal humeri |
| HP:0002007 | Frontal bossing |
| HP:0000470 | Short neck |
| HP:0005085 | Limited knee flexion/extension |
| HP:0000286 | Epicanthus |
| HP:0004415 | Pulmonary artery stenosis |
| HP:0006376 | Limited elbow flexion |
| HP:0001377 | Limited elbow extension |
