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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
- MeSH
- UMLS
- ORDO
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9Y625 | Glypican-6 |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001249 | Intellectual disability |
| HP:0003196 | Short nose |
| HP:0000358 | Posteriorly rotated ears |
| HP:0008905 | Rhizomelia |
| HP:0002823 | Abnormal femur morphology |
| HP:0000347 | Micrognathia |
| HP:0005025 | Hypoplastic distal humeri |
| HP:0002007 | Frontal bossing |
| HP:0030680 | Abnormal cardiovascular system morphology |
| HP:0000944 | Abnormal metaphysis morphology |
