WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111604 Freeman-Sheldon syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.

1 Ontology

Name
Disease Ontology

7 Parents

Identifier Name Description
DOID:7 disease of anatomical entity A disease that manifests in a defined anatomical structure.
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:66 muscle tissue disease A muscular disease located in the muscle tissue.
DOID:0080000 muscular disease A musculoskeletal system disease that affects the muscles.
DOID:0050646 distal arthrogryposis A muscle tissue disease characterized by congenital joint contractures of hand and feet.
DOID:0111604 Freeman-Sheldon syndrome A distal arthrogryposis characterized by microstomia with a whistling appearance of the mouth, distinctive facies, club foot and joint contractures.

8 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050646 DOID:0111604
is_a DOID:4 DOID:0111604
is_a DOID:66 DOID:0111604
is_a DOID:17 DOID:0111604
is_a DOID:7 DOID:0111604
is_a DOID:0080000 DOID:0111604
is_a DOID:0111604 DOID:0111605
is_a DOID:0111604 DOID:0111606

4 Synonyms

Name Type
craniocarpotarsal dysplasia synonym
craniocarpotarsal dystrophy synonym
whistling face syndrome synonym
whistling face-windmill vane hand syndrome synonym