Statements (28)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
rare disease
|
| gptkbp:alsoKnownAs |
gptkb:OCS
|
| gptkbp:cause |
perinatal lethality
|
| gptkbp:characterizedBy |
short limbs
abnormal bone development narrow thorax premature closure of cranial sutures |
| gptkbp:diagnosedBy |
genetic testing
prenatal ultrasound |
| gptkbp:firstDescribed |
1994
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
osteocraniostenosis
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:FGFR3_gene
|
| gptkbp:prevalence |
extremely rare
|
| gptkbp:relatedTo |
gptkb:thanatophoric_dysplasia
|
| gptkbp:symptom |
respiratory insufficiency
midface hypoplasia craniosynostosis fetal hydrops polyhydramnios hypoplastic clavicles micromelia neonatal death proptosis small chest cavity |
| gptkbp:bfsParent |
gptkb:ENSG00000177885
|
| gptkbp:bfsLayer |
7
|