syndromic arthrogryposis

GPTKB entity

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