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ONTOLOGY REPORT - ANNOTATIONS


Term:Birt-Hogg-Dube syndrome
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Accession:DOID:0050676 term browser browse the term
Definition:Autosomal dominant neoplastic syndrome characterised by genodermatosis, lung cysts, spontaneous and recurrent PNEUMOTHORAX; and RENAL CANCER. It is associated with mutations in the folliculin protein gene (FLCN protein).
Synonyms:exact_synonym: BHD;   Birt-Hogg-Dubé syndrome;   Fibrofolliculomas with Trichodiscomas and Acrochordons;   Hornstein-Birt-Hogg-Dubé Syndrome;   Hornstein-Knickenberg syndrome;   Renal cystadenocarcinoma and nodular dermatofibrosis
 primary_id: MESH:D058249
 alt_id: OMIA:001335;   OMIM:135150;   RDO:0007817
 xref: GARD:2322
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Birt-Hogg-Dube syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Flcn folliculin JBrowse link 10 46,153,185 46,172,331 RGD:1598946
RGD:7240710
RGD:8554872
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      Birt-Hogg-Dube syndrome 1
Path 2
Term Annotations click to browse term
  disease 15619
    Developmental Diseases 8737
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7519
        genetic disease 7008
          monogenic disease 4561
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Birt-Hogg-Dube syndrome 1
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.