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

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Path 1
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  disease 14875
    syndrome 4220
      Birt-Hogg-Dube syndrome 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        genetic disease 5997
          monogenic disease 2855
            autosomal genetic disease 2137
              autosomal dominant disease 1098
                Birt-Hogg-Dube syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.