WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060913 proteosome-associated autoinflammatory syndrome Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.

1 Ontology

Name
Disease Ontology

6 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:2914 immune system disease A disease of anatomical entity that is located_in the immune system.
DOID:612 primary immunodeficiency disease An immune system disease that results when one or more essential parts of the immune system is missing or not working properly at birth due to a genetic mutation.
DOID:0060913 proteosome-associated autoinflammatory syndrome An autoinflammatory disease that is characterized by early onset, dermatitis, dysregulation of the immune response and variable features of recurrent fever, joint contractures, lipodystrophy, hepatosplenomegaly, anemia and calcifications.
DOID:0051000 autoinflammatory disease A primary immunodeficiency disease that is characterized by the activation of innate immune cells without an infection or injury being present, thus kickstarting the release of cytokines and other immune responses, causing fever and inflammation.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060913 DOID:0050553
is_a DOID:0051000 DOID:0060913
is_a DOID:7 DOID:0060913
is_a DOID:612 DOID:0060913
is_a DOID:4 DOID:0060913
is_a DOID:2914 DOID:0060913
is_a DOID:0060913 DOID:0060914
is_a DOID:0060913 DOID:0060915
is_a DOID:0060913 DOID:0060916
is_a DOID:0060913 DOID:0060919

0 Synonyms