WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060196 amyotrophic lateral sclerosis type 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.

1 Ontology

Name
Disease Ontology

8 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: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: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:0060196 amyotrophic lateral sclerosis type 4 An amyotrophic lateral sclerosis with juvenile onset that has_material_basis_in mutation in the SETX gene on chromosome 9.

7 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:332 DOID:0060196
is_a DOID:1289 DOID:0060196
is_a DOID:331 DOID:0060196
is_a DOID:231 DOID:0060196
is_a DOID:7 DOID:0060196
is_a DOID:4 DOID:0060196
is_a DOID:863 DOID:0060196

6 Synonyms

Name Type
ALS4 synonym
amyotrophic lateral sclerosis 4 synonym
amyotrophic lateral sclerosis 4, juvenile synonym
dHMN with upper motor neuron signs synonym
distal hereditary motor neuropathy with pyramidal features synonym
distal hereditary motor neuropathy with upper motor neuron signs synonym