WormMine

WS296

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0111832 X-linked spinocerebellar ataxia 4 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.

1 Ontology

Name
Disease Ontology

12 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: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:0050735 X-linked monogenic disease A monogenic disease that has_material_basis_in mutations in genes on the X chromosome.
DOID:1289 neurodegenerative disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:0050951 hereditary ataxia A neurodegenerative disease that is characterized by slowly progressive incoordination of gait and often associated with poor coordination of hands, speech, and eye movements.
DOID:0050953 X-linked hereditary ataxia A hereditary ataxia that is characterized by X-linked inheritance.
DOID:0111828 X-linked cerebellar ataxia A hereditary ataxia characterized by X-linked inheritance.
DOID:0111832 X-linked spinocerebellar ataxia 4 An X-linked cerebellar ataxia characterized by ataxia, pyramidal tract signs and adult-onset dementia with X-linked inheritance.

11 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0111828 DOID:0111832
is_a DOID:0050735 DOID:0111832
is_a DOID:7 DOID:0111832
is_a DOID:0050951 DOID:0111832
is_a DOID:0050953 DOID:0111832
is_a DOID:4 DOID:0111832
is_a DOID:331 DOID:0111832
is_a DOID:0050177 DOID:0111832
is_a DOID:630 DOID:0111832
is_a DOID:1289 DOID:0111832
is_a DOID:863 DOID:0111832

3 Synonyms

Name Type
SCAX4 synonym
X-linked ataxia-dementia syndrome synonym
X-linked spinocerebellar ataxia type 4 synonym