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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
For additional species annotation, visit the Alliance of Genome Resources.


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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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  disease 14759
    syndrome 4210
      Birt-Hogg-Dube syndrome 1
Path 2
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  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                Birt-Hogg-Dube syndrome 1
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