WormMine

WS297

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0060372 Parkinson's disease 15 Disease Ontology

Namespace  disease_ontology Obsolete  false
Description  An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.

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: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: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:0050737 autosomal recessive disease An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop.
DOID:1289 neurodegenerative disease A central nervous system disease that results in the progressive deterioration of function or structure of neurons.
DOID:0050890 synucleinopathy A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells.
DOID:14330 Parkinson's disease A synucleinopathy that has_material_basis_in degeneration of the central nervous system that often impairs motor skills, speech, and other functions.
DOID:0060894 early-onset Parkinson's disease A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age.
DOID:0060372 Parkinson's disease 15 An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3.

12 Relations

Relationship
Parent Term . Identifier

Child Term . Identifier
is_a DOID:0060894 DOID:0060372
is_a DOID:0050737 DOID:0060372
is_a DOID:0050739 DOID:0060372
is_a DOID:1289 DOID:0060372
is_a DOID:331 DOID:0060372
is_a DOID:7 DOID:0060372
is_a DOID:630 DOID:0060372
is_a DOID:4 DOID:0060372
is_a DOID:863 DOID:0060372
is_a DOID:14330 DOID:0060372
is_a DOID:0050890 DOID:0060372
is_a DOID:0050177 DOID:0060372

4 Synonyms

Name Type
autosomal recessive early-onset Parkinson disease 15 synonym
autosomal recessive early-onset Parkinson's disease 15 synonym
pallidopyramidal syndrome synonym
Parkinsonian-pyramidal syndrome synonym