OBO ID: DOID:0070298 |
Term Name: | multiple epiphyseal dysplasia 2 | Search Ontology: | |
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Definition: | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A2 gene on chromosome 1p34. https://www.ncbi.nlm.nih.gov/pubmed/8528240 | ||
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Ontology: | Human Disease (DOID:0070298) |