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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:Labrune Syndrome
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Accession:DOID:9003124 term browser browse the term
Synonyms:exact_synonym: LCC;   leukoencephalopathy, brain calcifications and cysts
 primary_id: MESH:C000598644
 alt_id: OMIM:614561
For additional species annotation, visit the Alliance of Genome Resources.


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Labrune Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alox12b arachidonate 12-lipoxygenase, 12R type ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar NCBI chr10:53,863,060...53,874,938
Ensembl chr10:53,863,060...53,874,938
JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:27571260 PMID:28177126 PMID:29260032 PMID:29970281 More... NCBI chr10:53,772,153...53,774,685
Ensembl chr10:53,771,784...53,774,676
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    disease of anatomical entity 16551
      nervous system disease 12097
        Nervous System Malformations 1652
          Central Nervous System Cysts 7
            Labrune Syndrome 2
Path 2
Term Annotations click to browse term
  disease 17205
    Nutritional and Metabolic Diseases 5535
      disease of metabolism 5535
        acquired metabolic disease 2894
          mineral metabolism disease 560
            calcium metabolism disease 339
              calcinosis 302
                Labrune Syndrome 2
paths to the root