Search Ontology:
Human Disease
multiple epiphyseal dysplasia 4
- Term ID
- DOID:0070300
- Synonyms
-
- EDM4
- MED4
- multiple epiphyseal dysplasia with bilateral patellae
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the SLC26A2 gene on chromosome 5q32. https://www.ncbi.nlm.nih.gov/pubmed/10465113
- References
-
- GARD:9793
- MESH:C535504
- MIM:226900
- Ontology
- Human Disease ( DOID:0070300 )
- is a type of
Other Pages
Genes Involved
Human Gene | Zebrafish Ortholog | OMIM Term | Disease | OMIM Phenotype ID |
---|---|---|---|---|
SLC26A2 | Epiphyseal dysplasia, multiple, 4 | multiple epiphyseal dysplasia 4 | 226900 |
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Zebrafish Models
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