WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.

1 Ontology

Name
Disease Ontology

13 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: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:231 motor neuron disease A neurodegenerative disease that is located_in the motor neurons.
DOID:1289 neurodegenerative disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:332 amyotrophic lateral sclerosis A motor neuron disease that is characterized by muscle spasticity, rapidly progressive weakness due to muscle atrophy, difficulty in speaking, swallowing, and breathing.
DOID:1561 cognitive disorder A disease of mental health that affects cognitive functions including memory processing, perception and problem solving.
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.
DOID:0111227 frontotemporal dementia and/or amyotrophic lateral sclerosis 7 A frontotemporal dementia and/or amyotrophic lateral sclerosis that has_material_basis_in heterozygous mutation in CHMP2B on 3p11.2.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:332 DOID:0111227
is_a DOID:9255 DOID:0111227
is_a DOID:7 DOID:0111227
is_a DOID:936 DOID:0111227
is_a DOID:150 DOID:0111227
is_a DOID:231 DOID:0111227
is_a DOID:1561 DOID:0111227
is_a DOID:331 DOID:0111227
is_a DOID:4 DOID:0111227
is_a DOID:1289 DOID:0111227
is_a DOID:863 DOID:0111227
is_a DOID:1307 DOID:0111227

11 Synonyms

Name Type
ALS17 synonym
AMYOTROPHIC LATERAL SCLEROSIS synonym
AMYOTROPHIC LATERAL SCLEROSIS 17 (FORMERLY) synonym
amyotrophic lateral sclerosis type 17 synonym
CHMP2B-RELATED synonym
CHMP2B-related frontotemporal dementia synonym
chromosome 3-linked frontotemporal dementia synonym
FRONTOTEMPORAL DEMENTIA synonym
FTD3 synonym
FTDALS7 synonym
DOID:0060208 alt_id