WormBase Tree Display for DO_term: DOID:0070301
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| DOID:0070301 | Name | multiple epiphyseal dysplasia 6 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. | ||||
| Synonym | Exact | EDM6 | |||
| Parent | Is_a | DOID:0050736 | |||
| DOID:0070305 | |||||
| DB_info | Database | OMIM | disease | 614135 | |
| Attribute_of | Gene_by_orthology | WBGene00000251 | |||
| WBGene00000603 | |||||
| WBGene00001066 |
