Statements (21)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
skeletal dysplasia |
| gptkbp:affects |
cartilage development
|
| gptkbp:alsoKnownAs |
Langer-Saldino achondrogenesis
|
| gptkbp:characterizedBy |
hydrops fetalis
prenatal lethality severe short-limbed dwarfism small chest underdeveloped bones |
| gptkbp:diagnosedBy |
molecular genetic testing
prenatal ultrasound |
| gptkbp:firstDescribed |
Langer and Wiedemann
|
| gptkbp:frequency |
very rare
|
| gptkbp:hasNoCure |
true
|
| https://www.w3.org/2000/01/rdf-schema#label |
achondrogenesis type II
|
| gptkbp:ICD-10_code |
Q77.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:COL2A1_gene
|
| gptkbp:OMIM |
200610
|
| gptkbp:bfsParent |
gptkb:COL2A1_gene
|
| gptkbp:bfsLayer |
7
|