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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Hereditary Diffuse Leukoencephalopathy with Spheroids 2
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Accession:DOID:9008175 term browser browse the term
Definition:An autosomal dominant neurodegenerative disorder characterized by progressive cognitive and executive dysfunction, psychiatric disturbances, and neurologic symptoms, such as gait abnormalities, paresis, seizures, and rigidity. Caused by heterozygous mutation in the AARS1 gene on chromosome 16q22.
Synonyms:exact_synonym: HDLS2;   hereditary diffuse leukoencephalopathy with spheroids, Swedish type
 primary_id: OMIM:619661



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Hereditary Diffuse Leukoencephalopathy with Spheroids 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars1 alanyl-tRNA synthetase 1 ISO ClinVar Annotator: match by term: Leukoencephalopathy, hereditary diffuse, with spheroids 2 OMIM
ClinVar
PMID:6595937 PMID:31775912 NCBI chr19:38,999,130...39,021,152
Ensembl chr19:38,999,163...39,021,147
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21155
    disease of anatomical entity 18219
      nervous system disease 14053
        central nervous system disease 12385
          brain disease 11623
            Leukoencephalopathies 594
              Hereditary Diffuse Leukoencephalopathy with Spheroids 2 1
Path 2
Term Annotations click to browse term
  disease 21155
    Developmental Disease 18469
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18327
        genetic disease 18271
          monogenic disease 10324
            autosomal genetic disease 9470
              autosomal dominant disease 6224
                Hereditary Diffuse Leukoencephalopathy with Spheroids 2 1
paths to the root