WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0110117 autoimmune lymphoproliferative syndrome type 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.

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:2914 immune system disease A disease of anatomical entity that is located_in the immune system.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:0060056 hypersensitivity reaction disease An immune system disease that has_material_basis_in abnormal immune responses.
DOID:2916 hypersensitivity reaction type IV disease A hypersensitivity reaction disease that is characterized by a cell-mediated response to antigens, where Th1 helper T cells react with antigens on antigen-presenting cells and cause a delayed type immune response.
DOID:6688 autoimmune lymphoproliferative syndrome A hypersensitivity reaction type IV disease that is an inherited disorder in which the body cannot properly regulate the number of immune system cells (lymphocytes). It is characterized by the production of an abnormally large number of lymphocytes. Accumulation of excess lymphocytes results in enlargement of the lymph nodes, the liver, and the spleen.
DOID:0110117 autoimmune lymphoproliferative syndrome type 4 An autoimmune lymphoproliferative syndrome that has_material_basis_in somatic mutation in the NRAS gene or the KRAS gene on chromosome 12p12.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:6688 DOID:0110117
is_a DOID:0050736 DOID:0110117
is_a DOID:2916 DOID:0110117
is_a DOID:2914 DOID:0110117
is_a DOID:7 DOID:0110117
is_a DOID:630 DOID:0110117
is_a DOID:4 DOID:0110117
is_a DOID:0050739 DOID:0110117
is_a DOID:0050177 DOID:0110117
is_a DOID:0060056 DOID:0110117

7 Synonyms

Name Type
ALPS type 4 synonym
ALPS type IV synonym
ALPS4 synonym
autoimmune lymphoproliferative syndrome type IV synonym
RALD synonym
RAS-associated autoimmune leukoproliferative disease synonym
RAS-associated autoimmune leukoproliferative disorder synonym