WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0090063 familial cold autoinflammatory syndrome 2 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.

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: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: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: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.
DOID:0090061 familial cold autoinflammatory syndrome An autoinflammatory disease that is characterized by recurrent episodes of maculopapular skin rash triggered by exposure to cold associated with low-grade fever, general malaise, eye redness and arthralgia/myalgia.
DOID:0090063 familial cold autoinflammatory syndrome 2 A familial cold autoinflammatory syndrome characterized by autosomal dominant inheritance that has_material_basis_in heterozygous mutation in the NLRP12 gene on chromosome 19q13.

10 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0090063
is_a DOID:0090061 DOID:0090063
is_a DOID:630 DOID:0090063
is_a DOID:0050177 DOID:0090063
is_a DOID:4 DOID:0090063
is_a DOID:7 DOID:0090063
is_a DOID:0051000 DOID:0090063
is_a DOID:612 DOID:0090063
is_a DOID:0050739 DOID:0090063
is_a DOID:2914 DOID:0090063

2 Synonyms

Name Type
FCAS2 synonym
NLRP12-associated hereditary periodic fever syndrome synonym