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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:0000175 | Cleft palate |
| HP:0000218 | High palate |
| HP:0000347 | Micrognathia |
| HP:0000363 | Abnormal earlobe morphology |
| HP:0000369 | Low-set ears |
| HP:0000377 | Abnormal pinna morphology |
| HP:0001156 | Brachydactyly |
| HP:0001371 | Flexion contracture |
| HP:0001376 | Limitation of joint mobility |
| HP:0001385 | Hip dysplasia |
