Parkinson's disease 7

Summary
Synonym
  • autosomal recessive early-onset Parkinson disease 7
  • autosomal recessive early-onset Parkinson's disease 7
Definition
An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36.
Super Class
autosomal recessive disease early-onset Parkinson's disease
Disease Ontology
DOID:0060370
Mondo Disease Ontology
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
11315 PARK7 Parkinsonism associated deglycase
Displaying 1 entry
Gene ID Gene Symbol Description Source
57320 Park7 Parkinson disease (autosomal recessive, early onset) 7
The Human Phenotype Ontology
Displaying entries 21 - 30 of 31 in total
HPO ID HPO Term
HP:0001337 Tremor
HP:0000726 Dementia
HP:0002172 Postural instability
HP:0100785 Insomnia
HP:0002014 Diarrhea
HP:0000736 Short attention span
HP:0003394 Muscle spasm
HP:0000713 Agitation
HP:0002067 Bradykinesia
HP:0012760 Reduced social reciprocity
Displaying all 2 entries
Gene ID Gene Symbol Description
120892 LRRK2 leucine rich repeat kinase 2
8867 SYNJ1 synaptojanin 1

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024