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ONTOLOGY REPORT - ANNOTATIONS


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: OMIM:221770
 xref: GARD:9921;   ORDO:2770
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Nasu-Hakola disease term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Trem2 triggering receptor expressed on myeloid cells 2 JBrowse link 9 14,611,541 14,618,076 RGD:8554872
G Tyrobp transmembrane immune signaling adaptor Tyrobp JBrowse link 1 88,875,370 88,879,305 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 15984
    syndrome 6094
      Nasu-Hakola disease 2
Path 2
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  disease 15984
    disease by infectious agent 1606
      viral infectious disease 1315
        RNA Virus Infections 1150
          Mononegavirales Infections 73
            Paramyxoviridae Infections 59
              Morbillivirus Infections 5
                measles 5
                  subacute sclerosing panencephalitis 2
                    Nasu-Hakola disease 2
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.