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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: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;   Hornstein-Birt-Hogg-Dubé Syndrome;   Hornstein-Knickenberg syndrome;   fibrofolliculomas with trichodiscomas and acrochordons;   renal cystadenocarcinoma and nodular dermatofibrosis
 primary_id: MESH:D058249
 alt_id: OMIA:001335;   OMIM:135150
 xref: GARD:2322;   ORDO:122
For additional species annotation, visit the Alliance of Genome Resources.


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Birt-Hogg-Dube syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Flcn folliculin ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by OMIM:135150
ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome
ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome
OMIM
ClinVar
CTD
PMID:12204536, PMID:12471204, PMID:12843323, PMID:14627671, PMID:15657874, PMID:15805188, PMID:15852235, PMID:15956655, PMID:17028174, PMID:17496196, PMID:17611575, PMID:18234728, PMID:18403135, PMID:18505456, PMID:18579543, PMID:18663353, PMID:18794106, PMID:19116017, PMID:19457309, PMID:19562744, PMID:19659657, PMID:19785621, PMID:19802896, PMID:20301695, PMID:20413710, PMID:20522427, PMID:20618353, PMID:21412933, PMID:21506000, PMID:21520333, PMID:21538689, PMID:21937013, PMID:22068306, PMID:22146830, PMID:22382802, PMID:22441547, PMID:22571569, PMID:22679611, PMID:22703879, PMID:22977732, PMID:23050938, PMID:23155228, PMID:23217326, PMID:23264078, PMID:23364595, PMID:23386036, PMID:23414156, PMID:23757202, PMID:23784378, PMID:23848572, PMID:23874397, PMID:24033266, PMID:24055113, PMID:24346394, PMID:24393238, PMID:24726356, PMID:24728327, PMID:25126726, PMID:25326637, PMID:25519458, PMID:25594584, PMID:25637381, PMID:25741868, PMID:25827758, PMID:26028485, PMID:26334087, PMID:26402642, PMID:26603437, PMID:26659639, PMID:27072130, PMID:27220747, PMID:27229674, PMID:27257988, PMID:27258496, PMID:27355777, PMID:27356891, PMID:27470329, PMID:27642565, PMID:27643397, PMID:27652079, PMID:27734835, PMID:27905298, PMID:27906882, PMID:28007907, PMID:28151982, PMID:28202063, PMID:28492532, PMID:28558743, PMID:28724667, PMID:28785590, PMID:28839995, PMID:28869776, PMID:28873162, PMID:28891800, PMID:28970150, PMID:29357828, PMID:29548312, PMID:30311386, PMID:30360018, PMID:12204536 RGD:1598946 NCBI chr10:46,153,185...46,172,331
Ensembl chr10:46,153,188...46,172,309
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16103
    syndrome 6989
      Birt-Hogg-Dube syndrome 1
Path 2
Term Annotations click to browse term
  disease 16103
    Developmental Diseases 9506
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8364
        genetic disease 7847
          monogenic disease 5622
            autosomal genetic disease 4625
              autosomal dominant disease 2993
                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.