Statements (18)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
collagen
bone development |
| gptkbp:describedBy |
medical genetics literature
|
| https://www.w3.org/2000/01/rdf-schema#label |
fibrochondrogenesis
|
| gptkbp:inheritance |
autosomal recessive
|
| gptkbp:mutationAssociatedWith |
gptkb:COL11A1_gene
gptkb:COL11A2_gene |
| gptkbp:OMIM |
228520
|
| gptkbp:onset |
prenatal
|
| gptkbp:prognosis |
lethal in perinatal period
|
| gptkbp:symptom |
short stature
facial abnormalities flattened vertebrae severe skeletal abnormalities |
| gptkbp:bfsParent |
gptkb:COL11A1
|
| gptkbp:bfsLayer |
7
|