WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.

1 Ontology

Name
Disease Ontology

11 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:0080001 bone disease A connective tissue disease that affects the structure or development of bone or causes an impairment of normal bone function.
DOID:65 connective tissue disease A musculoskeletal system disease that affects tissues such as skin, tendons, and cartilage.
DOID:0080015 physical disorder A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment.
DOID:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:2256 osteochondrodysplasia A bone development disease that results_in defective development of cartilage or bone.
DOID:1222 cartilage disease A connective tissue disease that is located_in cartilage.
DOID:0050813 spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepiphyseal dysplasia that is characterized by short stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.
DOID:0112280 spondyloepiphyseal dysplasia An osteochondrodysplasia characterized by skeletal dysplasia mainly involving the spine and proximal epiphyses resulting in shortening of the trunk and limbs.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080015 DOID:0050813
is_a DOID:0112280 DOID:0050813
is_a DOID:65 DOID:0050813
is_a DOID:4 DOID:0050813
is_a DOID:7 DOID:0050813
is_a DOID:2256 DOID:0050813
is_a DOID:1222 DOID:0050813
is_a DOID:0080001 DOID:0050813
is_a DOID:17 DOID:0050813
is_a DOID:0080006 DOID:0050813

8 Synonyms

Name Type
CHONDRODYSPLASIA WITH MULTIPLE DISLOCATIONS synonym
CHST3-Related Skeletal Dysplasia synonym
humero-spinal dysostosis synonym
Humero-spinal dysostosis with congenital heart disease synonym
humerospinal dysostosis synonym
Kozlowski Celermajer Tink syndrome synonym
Omani Type synonym
Spondyloepiphyseal Dysplasia synonym