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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:0005050 | Anterolateral radial head dislocation |
| HP:0008800 | Limited hip movement |
| HP:0001629 | Ventricular septal defect |
| HP:0012107 | Increased fibular diameter |
| HP:0003066 | Limited knee extension |
| HP:0001028 | Hemangioma |
| HP:0005736 | Short tibia |
| HP:0000007 | Autosomal recessive inheritance |
| HP:0006389 | Limited knee flexion |
| HP:0001537 | Umbilical hernia |
