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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:progressive leukoencephalopathy with ovarian failure
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Accession:DOID:0070396 term browser browse the term
Definition:An leukodystrophy characterized by loss of motor and cognitive skills, usually with onset in young adulthood, that has_material_basis_in compound heterozygous mutation in the AARS2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: LKENP
 related_synonym: ovarioleukodystrophy
 primary_id: OMIM:615889
 alt_id: DOID:9006658


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progressive leukoencephalopathy with ovarian failure term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Aars2 alanyl-tRNA synthetase 2, mitochondrial ISO ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 More... NCBI chr 9:15,484,639...15,496,116
Ensembl chr 9:15,297,531...15,496,090 		JBrowse link
G Polr1c RNA polymerase I and III subunit C ISO ClinVar Annotator: match by term: Leukoencephalopathy, progressive, with ovarian failure ClinVar PMID:24808023 PMID:25058219 PMID:25705216 PMID:25741868 PMID:27734837 More... NCBI chr 9:14,735,740...14,739,852
Ensembl chr 9:14,735,714...14,739,852 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      endocrine system disease 6821
        gonadal disease 1212
          ovarian disease 891
            progressive leukoencephalopathy with ovarian failure 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      Urogenital Diseases 5233
        Female Urogenital Diseases and Pregnancy Complications 2456
          Female Urogenital Diseases 2003
            female reproductive system disease 2000
              Adnexal Diseases 900
                ovarian disease 891
                  progressive leukoencephalopathy with ovarian failure 2
paths to the root