WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060386 Chilblain lupus Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.

1 Ontology

Name
Disease Ontology

12 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:37 skin disease An integumentary system disease that is located_in skin.
DOID:16 integumentary system disease A disease of anatomical entity that is located_in the integumentary system comprising the skin and its appendages.
DOID:417 autoimmune disease An immune system disease that is an overactive immune response of the body against substances and tissues normally present in the body resulting from an abnormal functioning of the immune system that results in the production of antibodies or T cell directed against the host tissues.
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:17 musculoskeletal system disease A disease of anatomical entity that occurs in the muscular and/or skeletal system.
DOID:0060032 autoimmune disease of musculoskeletal system An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the musculoskeletal system.
DOID:8857 lupus erythematosus An autoimmune disease that is characterized by a constellation of findings that include elevated antibodies to nuclear antigens, antiphospholipids, low complement levels, ulcers, non-scarring alopecia, renal or neurologic damage, and low white blood cell and platelet counts, has_symptom rashes, fatigue, arthritis, hair loss, seizures, and symptoms related to affected organs.
DOID:0050169 cutaneous lupus erythematosus A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight.
DOID:0060386 Chilblain lupus A cutaneous form of systemic lupus erythermatosus that is characterized by painful nodular skin lesions precipitated by variation in temperatures, has_material_basis_in autosomal dominant inheritance of mutation in the TREX1 gene.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050169 DOID:0060386
is_a DOID:417 DOID:0060386
is_a DOID:17 DOID:0060386
is_a DOID:7 DOID:0060386
is_a DOID:8857 DOID:0060386
is_a DOID:16 DOID:0060386
is_a DOID:2914 DOID:0060386
is_a DOID:4 DOID:0060386
is_a DOID:37 DOID:0060386
is_a DOID:0060032 DOID:0060386
is_a DOID:612 DOID:0060386

0 Synonyms