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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: OMIM:221770
 xref: GARD:9921;   ORDO:2770
For additional species annotation, visit the Alliance of Genome Resources.


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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 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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Nasu-Hakola disease 2
Path 2
Term Annotations click to browse term
  disease 16058
    disease by infectious agent 1759
      viral infectious disease 1457
        RNA Virus Infections 1290
          Mononegavirales Infections 80
            Paramyxoviridae Infections 60
              Morbillivirus Infections 5
                measles 5
                  subacute sclerosing panencephalitis 2
                    Nasu-Hakola disease 2
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.