Search Ontology:
Human Disease
multiple epiphyseal dysplasia 5
- Term ID
- DOID:0070299
- Synonyms
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- BHMED
- bilateral hereditary microepiphyseal dysplasia
- EDM5
- multiple epiphyseal dysplasia MATN3-related
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in heterozygous mutation in the MATN3 gene on chromosome 2p24. https://www.ncbi.nlm.nih.gov/pubmed/11479597
- References
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- GARD:9794
- MESH:C535505
- MIM:607078
- ORDO:93311
- SNOMEDCT_US_2023_03_01:715674008
- UMLS_CUI:C1846843
- Ontology
- Human Disease ( DOID:0070299 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models