Metadata | |
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ID | DOID:0070301 |
Name | multiple epiphyseal dysplasia 6 |
Definition | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. https://www.ncbi.nlm.nih.gov/pubmed/11565064 |
Xrefs | |
Synonyms |
EDM6 [EXACT] |
Parent Relationships |
is_a multiple epiphyseal dysplasia due to collagen 9 anomaly |