Osteogenesis imperfecta type II
GPTKB entity
Statements (29)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
osteogenesis imperfecta subtype |
| gptkbp:affects |
collagen type I synthesis
|
| gptkbp:alsoKnownAs |
OI type II
|
| gptkbp:characterizedBy |
short stature
blue sclerae multiple fractures at birth underdeveloped lungs severe bone fragility |
| gptkbp:diagnosedBy |
genetic testing
prenatal ultrasound |
| gptkbp:firstDescribed |
1979
|
| gptkbp:hasOrphanetID |
ORPHA:666
|
| https://www.w3.org/2000/01/rdf-schema#label |
Osteogenesis imperfecta type II
|
| gptkbp:ICD-10_code |
gptkb:Q78.0
|
| gptkbp:inheritance |
autosomal dominant
autosomal recessive |
| gptkbp:mutationAssociatedWith |
gptkb:COL1A1_gene
gptkb:COL1A2_gene |
| gptkbp:OMIM |
166210
|
| gptkbp:prevalence |
rare
|
| gptkbp:prognosis |
lethal in perinatal period
|
| gptkbp:symptom |
bone deformities
short limbs respiratory insufficiency beaded ribs soft skull |
| gptkbp:bfsParent |
gptkb:Vrolik_syndrome
|
| gptkbp:bfsLayer |
7
|