basal ganglia calcification

Summary
Synonym
  • Fahr disease
Definition
A basal ganglia disease characterized by the presence of abnormal calcium deposits of unknown cause in the brain; has symptom dementia, psychosis, mood swings and loss of acquired motor skills.
Super Class
basal ganglia disease
External Links
Disease Ontology
DOID:0060230
Mondo Disease Ontology
MeSH
UMLS
OMIM
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
57462 MYORG myogenesis regulating glycosidase (putative)
Displaying 1 entry
Gene ID Gene Symbol Description Source
329828 Myorg myogenesis regulating glycosidase (putative)
Related Glycoprotein
Displaying 1 entry
UniProt ID Protein Name Source
Q6NSJ0 Myogenesis-regulating glycosidase
The Human Phenotype Ontology
Displaying entries 1 - 10 of 11 in total
HPO ID HPO Term
HP:0001511 Intrauterine growth retardation
HP:0002240 Hepatomegaly
HP:0001250 Seizure
HP:0002514 Cerebral calcification
HP:0001933 Subcutaneous hemorrhage
HP:0000252 Microcephaly
HP:0002269 Abnormality of neuronal migration
HP:0001873 Thrombocytopenia
HP:0007957 Corneal opacity
HP:0001392 Abnormality of the liver
Displaying 1 entry
Gene ID Gene Symbol Description
57462 MYORG myogenesis regulating glycosidase (putative)

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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: August 19, 2024