Otospondylomegaepiphyseal dysplasia
GPTKB entity
Statements (16)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:affects |
skeletal system
auditory system ocular system |
| gptkbp:causedBy |
mutation in COL11A2 gene
|
| https://www.w3.org/2000/01/rdf-schema#label |
Otospondylomegaepiphyseal dysplasia
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
215150
|
| gptkbp:symptom |
short stature
vision problems hearing loss skeletal abnormalities joint laxity |
| gptkbp:synonym |
OSMED
|
| gptkbp:bfsParent |
gptkb:COL11A1
|
| gptkbp:bfsLayer |
7
|