osteogenesis imperfecta type XVI
GPTKB entity
Statements (13)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
osteogenesis imperfecta subtype |
| gptkbp:firstDescribed |
2013
|
| https://www.w3.org/2000/01/rdf-schema#label |
osteogenesis imperfecta type XVI
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
CREB3L1 gene
|
| gptkbp:OMIM |
615066
|
| gptkbp:symptom |
short stature
blue sclerae bone fragility frequent fractures |
| gptkbp:bfsParent |
gptkb:CREB3L1
|
| gptkbp:bfsLayer |
7
|