Search Ontology:
Human Disease
multiple epiphyseal dysplasia 4
- Term ID
- DOID:0070300
- Synonyms
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- EDM4
- MED4
- multiple epiphyseal dysplasia with bilateral patellae
- multiple epiphyseal dysplasia with clubfoot
- Polyepiphyseal dysplasia type 4
- rMED
- 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
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- GARD:9793
- MESH:C535504
- MIM:226900
- ORDO:93307
- SNOMEDCT_US_2023_03_01:715672007
- UMLS_CUI:C1847593
- Ontology
- Human Disease ( DOID:0070300 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models