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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
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:0008829 | Delayed femoral head ossification |
| HP:0008848 | Moderately short stature |
| HP:0008905 | Rhizomelia |
| HP:0009381 | Short finger |
| HP:0009471 | Contracture of the proximal interphalangeal joint of the 3rd finger |
| HP:0009487 | Ulnar deviation of the hand |
| HP:0009778 | Short thumb |
| HP:0009824 | Upper limb undergrowth |
| HP:0010049 | Short metacarpal |
| HP:0010743 | Short metatarsal |
