1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0070301 | multiple epiphyseal dysplasia 6 | A multiple epiphyseal dysplasia due to collagen 9 anomaly that has_material_basis_in heterozygous mutation in the COL9A1 gene on chromosome 6p13. |
1 Parent Term
Identifier | Name | Description |
---|---|---|
DOID:0050177 | monogenic disease | A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive. |