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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:Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly
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Accession:DOID:9009089 term browser browse the term
Synonyms:xref: OMIM:PS221770
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
Nasu-Hakola disease term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by OMIM:221770
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
ClinVar PMID:12080485, PMID:12754369, PMID:12925681, PMID:15883308, PMID:18546367, PMID:21834902, PMID:23399524, PMID:25615530, PMID:25741868, PMID:27995897, PMID:28492532, PMID:28768830, PMID:29142083 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by OMIM:221770
ClinVar Annotator: match by null
OMIM
ClinVar
CTD
PMID:10888890, PMID:11109371, PMID:12370476, PMID:15883308, PMID:17125796, PMID:17430113, PMID:20500450, PMID:22082900, PMID:27658901, PMID:28492532, PMID:28620717 NCBI chr 1:88,875,370...88,879,305
Ensembl chr 1:88,875,375...88,879,303
JBrowse link
Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Trem2 triggering receptor expressed on myeloid cells 2 ISO ClinVar Annotator: match by term: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 2 ClinVar
OMIM
PMID:6681564, PMID:12080485, PMID:12754369, PMID:12925681, PMID:15883308, PMID:19019460, PMID:23150934, PMID:23399524, PMID:24119542, PMID:24685331, PMID:24899047, PMID:25186855, PMID:25615530, PMID:25741868, PMID:25886450, PMID:27067662, PMID:27995897, PMID:28376694, PMID:28492532, PMID:28768830, PMID:29142083 NCBI chr 9:14,611,541...14,618,076
Ensembl chr 9:14,611,561...14,618,013
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      bone development disease 1335
        osteochondrodysplasia 445
          Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly 2
            Nasu-Hakola disease 2
            Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        genetic disease 7859
          inherited metabolic disorder 2231
            lipid metabolism disorder 900
              lipodystrophy 35
                Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly 2
                  Nasu-Hakola disease 2
                  Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.