Statements (27)
Predicate | Object |
---|---|
gptkbp:instanceOf |
medical condition
genetic disorder |
gptkbp:affects |
gptkb:nervous_system
musculoskeletal system |
gptkbp:causedBy |
genetic disorder
environmental factors |
gptkbp:diagnosedBy |
clinical evaluation
genetic testing |
gptkbp:firstDescribed |
20th century
|
https://www.w3.org/2000/01/rdf-schema#label |
syndromic arthrogryposis
|
gptkbp:inheritance |
autosomal dominant
autosomal recessive X-linked |
gptkbp:subclassOf |
arthrogryposis multiplex congenita
|
gptkbp:subspecies |
gptkb:Freeman-Sheldon_syndrome
Sheldon-Hall syndrome Escobar syndrome |
gptkbp:symptom |
muscle weakness
craniofacial abnormalities joint contractures neurological abnormalities limb deformities |
gptkbp:treatment |
orthopedic surgery
occupational therapy physical therapy |
gptkbp:bfsParent |
gptkb:Arthrogryposis_multiplex_congenita
|
gptkbp:bfsLayer |
8
|