Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
bone development
cartilage development |
| gptkbp:diagnosedBy |
genetic testing
prenatal ultrasound |
| gptkbp:hasNoCure |
true
|
| gptkbp:hasOrphanetID |
ORPHA:2151
|
| https://www.w3.org/2000/01/rdf-schema#label |
hypochondrogenesis
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL2A1_gene
|
| gptkbp:OMIM |
200610
|
| gptkbp:onset |
prenatal
|
| gptkbp:prognosis |
lethal in perinatal period
|
| gptkbp:relatedTo |
achondrogenesis type 2
|
| gptkbp:symptom |
short limbs
hydrops fetalis small chest underdeveloped lungs |
| gptkbp:bfsParent |
gptkb:COL2A1_gene
|
| gptkbp:bfsLayer |
7
|