WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.

1 Ontology

Name
Disease Ontology

14 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:863 nervous system disease A disease of anatomical entity that is located_in the central nervous system or located_in the peripheral nervous system.
DOID:936 brain disease A central nervous system disease that is located_in the brain.
DOID:331 central nervous system disease A nervous system disease that affects either the spinal cord (myelopathy) or brain (encephalopathy) of the central nervous 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:150 disease of mental health A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.
DOID:1561 cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
DOID:0060672 Grn-related frontotemporal lobar degeneration with Tdp43 inclusions A frontotemporal dementia characterized by variable phenotypic expression typically including social, behavioral, or language deterioration, rather than memory or motor deficits and the presence of TARDBP-positive inclusions that has_material_basis_in mutation in the GRN gene on chromosome 17q21.31.
DOID:9255 frontotemporal dementia A dementia characterized by progressive neuronal loss predominantly involving the frontal and/or temporal lobes of the brain resulting in a gradual and progressive decline in behavior or language.
DOID:1307 dementia A cognitive disorder resulting from a loss of brain function affecting memory, thinking, language, judgement and behavior.

13 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0050736 DOID:0060672
is_a DOID:9255 DOID:0060672
is_a DOID:7 DOID:0060672
is_a DOID:936 DOID:0060672
is_a DOID:150 DOID:0060672
is_a DOID:1561 DOID:0060672
is_a DOID:1307 DOID:0060672
is_a DOID:4 DOID:0060672
is_a DOID:0050177 DOID:0060672
is_a DOID:331 DOID:0060672
is_a DOID:630 DOID:0060672
is_a DOID:0050739 DOID:0060672
is_a DOID:863 DOID:0060672

0 Synonyms