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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 1
ClinVar PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 PMID:18546367 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
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 More... NCBI chr 1:85,672,931...85,676,856
Ensembl chr 1:85,672,994...85,676,848
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 Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2
ClinVar
OMIM
PMID:6681564 PMID:12080485 PMID:12754369 PMID:12925681 PMID:15883308 More... NCBI chr 9:12,647,605...12,654,190
Ensembl chr 9:12,647,259...12,654,170
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17205
    Developmental Disease 10918
      bone development disease 1414
        osteochondrodysplasia 478
          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 17205
    Developmental Disease 10918
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9457
        genetic disease 8960
          inherited metabolic disorder 2619
            lipid metabolism disorder 995
              lipodystrophy 37
                Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly 2
                  Nasu-Hakola disease 2
                  Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy 2 1
paths to the root