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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:Nasu-Hakola disease
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Accession:DOID:0090112 term browser browse the term
Definition:A syndrome that is characterized by progressive presenile dementia and recurrent bone fractures due to polycystic osseous lesions of the lower and upper extremities that has_material_basis_in homozygous mutation in the TYRO protein tyrosine kinase binding protein (TYROBP) gene on chromosome 19q13 or homozygous mutation in the triggering receptor expressed on myeloid cells 2 (TREM2) gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: NHD;   PLO-SL;   PLOSL;   PLOSL1;   brain-bone-fat disease;   polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;   polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1;   prefrontal dementia with bone cysts;   presenile dementia with bone cysts;   progressive dementia with lipomembranous polycystic osteodysplasia;   progressive dementia with lipomembranous polycystic osteodysplasia; brain-bone-fat disease
 primary_id: MESH:C536329
 alt_id: MIM:221770
 xref: GARD:9921;   ORDO:2770


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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 term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1 ClinVar PMID:12080485 PMID:12754369 PMID:12883936 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
G Tyrobp transmembrane immune signaling adaptor Tyrobp ISO
ISS		 CTD Direct Evidence: marker/mechanism
OMIM:221770
ClinVar Annotator: match by term: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1		 OMIM
CTD
MouseDO
ClinVar		 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
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11271
      Nasu-Hakola disease 2
Path 2
Term Annotations click to browse term
  disease 19099
    Pathological Conditions, Signs and Symptoms 13605
      Signs and Symptoms 11184
        Neurologic Manifestations 10420
          sensory system disease 7331
            skin disease 4309
              Metabolic Skin Diseases 200
                lipodystrophy 200
                  Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephaly 2
                    Nasu-Hakola disease 2
paths to the root