1 Child Term
Identifier | Name | Description |
---|---|---|
DOID:0080677 | otospondylomegaepiphyseal dysplasia, autosomal dominant | An osteochondrodysplasia that is characterized by by autosomal dominant inheritance of mutations in the COL11A2 gene. |
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. |