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multiple epiphyseal dysplasia 4
Summary
- Synonym
-
- EDM4
- MED4
- Polyepiphyseal dysplasia type 4
- multiple epiphyseal dysplasia with bilateral patellae
- multiple epiphyseal dysplasia with clubfoot
- rMED
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32.
- Super Class
- autosomal recessive disease multiple epiphyseal dysplasia
External Links
- Disease Ontology
- DOID:0070300
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
- GARD
- WikiPathways (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P50443 | Sulfate transporter |
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0003365 | Arthralgia of the hip |
| HP:0003498 | Disproportionate short stature |
| HP:0004002 | Flattened radial epiphyses |
| HP:0004037 | Abnormal ulnar epiphysis morphology |
| HP:0005616 | Accelerated skeletal maturation |
| HP:0005922 | Abnormal hand morphology |
| HP:0006429 | Broad femoral neck |
| HP:0008434 | Hypoplastic cervical vertebrae |
| HP:0008807 | Acetabular dysplasia |
| HP:0008826 | Dislocation of the femoral head |
