Submissions
GlyTouCan
Glycan Structure Repository
GlyComb
Glycoconjugate Repository
GlycoPOST
Glycomics MS raw data Repository
UniCarb-DR
Glycomics MS Repository for glycan annotations from GlycoWorkbench
All Resources
Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0003042 | Elbow dislocation |
| HP:0001059 | Pterygium |
| HP:0100790 | Hernia |
| HP:0000358 | Posteriorly rotated ears |
| HP:0005280 | Depressed nasal bridge |
| HP:0002818 | Abnormal morphology of the radius |
| HP:0000343 | Long philtrum |
| HP:0004322 | Short stature |
| HP:0001363 | Craniosynostosis |
| HP:0010880 | Increased nuchal translucency |
