ONTOLOGY REPORT - ANNOTATIONS


Term:Nasu-Hakola disease
go back to main search page
Accession:DOID:0090112 term browser browse the term
Definition:An autosomal recessive disease 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 TYROBP gene on chromosome 19q13 or homozygous mutation in the TREM2 gene on chromosome 6p21. (DO)
Synonyms:exact_synonym: Dementia, prefrontal, with bone cysts;   NHD;   PLO-SL;   PLOSL;   PLOSL1;   POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1;   brain-bone-fat disease;   polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy;   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;   RDO:0001870
 xref: GARD:9921;   ORDO:2770
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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 Tyro protein tyrosine kinase binding protein JBrowse link 1 88,875,370 88,879,305 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14875
    disease by infectious agent 808
      viral infectious disease 486
        subacute sclerosing panencephalitis 2
          Nasu-Hakola disease 2
Path 2
Term Annotations click to browse term
  disease 14875
    disease by infectious agent 808
      viral infectious disease 486
        RNA Virus Infections 346
          Mononegavirales Infections 68
            Paramyxoviridae Infections 56
              Morbillivirus Infections 5
                measles 5
                  subacute sclerosing panencephalitis 2
                    Nasu-Hakola disease 2
paths to the root

NHLBI Logo

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