WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060160 childhood spinal muscular atrophy Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.

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:12377 spinal muscular atrophy A motor neuron disease that is a degenerative neuromuscular disease characterized by lower motor neuron degeneration associated with progressive muscle weakness and atrophy.
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:0060160 childhood spinal muscular atrophy A spinal muscular atrophy that is associated with the survival of motor neuron protein in childhood and that has_material_basis_in variation in the SMN gene.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060160 DOID:0050530
is_a DOID:12377 DOID:0060160
is_a DOID:231 DOID:0060160
is_a DOID:331 DOID:0060160
is_a DOID:1289 DOID:0060160
is_a DOID:7 DOID:0060160
is_a DOID:863 DOID:0060160
is_a DOID:4 DOID:0060160
is_a DOID:0060160 DOID:0080667
is_a DOID:0060160 DOID:12376
is_a DOID:0060160 DOID:13137

2 Synonyms

Name Type
spinal muscular atrophies of childhood synonym
survival motor neuron spinal muscular atrophy synonym