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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: MIM:614561


show annotations for term's descendants           Sort by:
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 Snord118 small nucleolar RNA, C/D box 118 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts		 OMIM
CTD
ClinVar		 PMID:25741868 PMID:27571260 PMID:28177126 PMID:28492532 PMID:29260032 More... NCBI chr10:53,774,811...53,774,946
Ensembl chr10:53,774,811...53,774,946 		JBrowse link
G Tmem107 transmembrane protein 107 ISO ClinVar Annotator: match by term: LABRUNE SYNDROME | ClinVar Annotator: match by term: Leukoencephalopathy, brain calcifications, and cysts ClinVar PMID:25741868 PMID:26595381 PMID:27571260 PMID:28177126 PMID:28492532 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 19137
    disease of cellular proliferation 7889
      Cysts 303
        Central Nervous System Cysts 11
          Labrune Syndrome 3
Path 2
Term Annotations click to browse term
  disease 19137
    Nutritional and Metabolic Diseases 8542
      disease of metabolism 8542
        acquired metabolic disease 2538
          mineral metabolism disease 959
            calcium metabolism disease 630
              calcinosis 553
                Labrune Syndrome 3
paths to the root