Search Ontology:
Human Disease
multiple epiphyseal dysplasia 7
- Term ID
- DOID:0070302
- Synonyms
-
- EDM7
- Definition
- A multiple epiphyseal dysplasia that has_material_basis_in homozygous mutation in the CANT1 gene on chromosome 17q25. https://www.ncbi.nlm.nih.gov/pubmed/28742282
- References
- Ontology
- Human Disease ( DOID:0070302 )
- is a type of
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