WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0050592 asphyxiating thoracic dystrophy Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

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: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:0080006 bone development disease A bone disease that results_in abnormal growth and development located_in bone or located_in cartilage.
DOID:0050592 asphyxiating thoracic dystrophy A bone development disease characterized by skeletal abnormalities and resulting in difficulty in breathing caused by mutations that result in ciliopathy.

21 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0080006 DOID:0050592
is_a DOID:17 DOID:0050592
is_a DOID:4 DOID:0050592
is_a DOID:7 DOID:0050592
is_a DOID:65 DOID:0050592
is_a DOID:0080001 DOID:0050592
is_a DOID:0050592 DOID:0080293
is_a DOID:0050592 DOID:0080295
is_a DOID:0050592 DOID:0110085
is_a DOID:0050592 DOID:0110086
is_a DOID:0050592 DOID:0110087
is_a DOID:0050592 DOID:0110088
is_a DOID:0050592 DOID:0110089
is_a DOID:0050592 DOID:0110090
is_a DOID:0050592 DOID:0110091
is_a DOID:0050592 DOID:0110092
is_a DOID:0050592 DOID:0110093
is_a DOID:0050592 DOID:0110094
is_a DOID:0050592 DOID:0110095
is_a DOID:0050592 DOID:0110096
is_a DOID:0050592 DOID:0110097

3 Synonyms

Name Type
Jeune syndrome synonym
short-rib thoracic dysplasia with or without polydactyly synonym
thoracic pelvic phalangeal dystrophy synonym