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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;   NCI:C28244;   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 16035
    syndrome 7010
      Birt-Hogg-Dube syndrome 1
Path 2
Term Annotations click to browse term
  disease 16035
    Developmental Diseases 9546
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8378
        genetic disease 7877
          monogenic disease 5719
            autosomal genetic disease 4736
              autosomal dominant disease 3040
                Birt-Hogg-Dube syndrome 1
paths to the root