Metadata | |
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ID | DOID:0070298 |
Name | multiple epiphyseal dysplasia 2 |
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 |
Xrefs | |
Synonyms |
EDM2 [EXACT] |
Parent Relationships |
is_a multiple epiphyseal dysplasia due to collagen 9 anomaly |