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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:0001387 | Joint stiffness |
| HP:0001440 | Metatarsal synostosis |
| HP:0001762 | Talipes equinovarus |
| HP:0001769 | Broad foot |
| HP:0001776 | Bilateral talipes equinovarus |
| HP:0001831 | Short toe |
| HP:0002515 | Waddling gait |
| HP:0002650 | Scoliosis |
| HP:0002652 | Skeletal dysplasia |
| HP:0002654 | Multiple epiphyseal dysplasia |
