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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:A skin disease that is characterized by hair follicle hamartomas, kidney tumors, and spontaneous pneumothorax, has_material_basis_in heterozygous mutation in the gene encoding folliculin (FLCN) on chromosome 17p11. (DO)
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: EFO:1001273;   GARD:2322;   MONDO:0007607;   NCI:C28244;   ORDO:122



show annotations for term's descendants           Sort by:
Birt-Hogg-Dube syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Alkbh5 alkB homolog 5, RNA demethylase ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,344,888...45,366,331
Ensembl chr10:45,343,395...45,366,331
JBrowse link
G Atpaf2 ATP synthase mitochondrial F1 complex assembly factor 2 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,205,658...45,221,891
Ensembl chr10:45,197,441...45,221,026
JBrowse link
G Cops3 COP9 signalosome subunit 3 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,618,115...44,652,807
Ensembl chr10:44,618,115...44,641,597
JBrowse link
G Drc3 dynein regulatory complex subunit 3 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,149,094...45,200,659
Ensembl chr10:45,157,354...45,199,369
JBrowse link
G Drg2 developmentally regulated GTP binding protein 2 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,255,501...45,269,971
Ensembl chr10:45,255,507...45,269,969
JBrowse link
G Flcn folliculin ISO DNA:mutations:multiple (human)
ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome | ClinVar Annotator: match by term: Fibrofolliculomas with trichodiscomas and acrochordons | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:9536098 PMID:12204536 PMID:12471204 PMID:12843323 PMID:14627671 More... RGD:1598946 NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
JBrowse link
G Flii FLII, actin remodeling protein ISO ClinVar Annotator: match by term: Birt-Hogg-Dubé Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,394,032...45,408,051
Ensembl chr10:45,394,032...45,407,970
JBrowse link
G Gid4 GID complex subunit 4 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,221,210...45,247,627
Ensembl chr10:45,245,754...45,247,621
Ensembl chr10:45,245,754...45,247,621
JBrowse link
G Llgl1 LLGL scribble cell polarity complex component 1 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,379,423...45,394,096
Ensembl chr10:45,379,515...45,394,094
JBrowse link
G Med9 mediator complex subunit 9 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,750,667...44,765,464
Ensembl chr10:44,750,698...44,765,464
JBrowse link
G Mief2 mitochondrial elongation factor 2 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,408,055...45,414,144
Ensembl chr10:45,408,082...45,414,144
JBrowse link
G Mprip myosin phosphatase Rho interacting protein ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,453,929...44,569,442
Ensembl chr10:44,453,929...44,569,118
JBrowse link
G Myo15a myosin XVA ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,277,619...45,335,953
Ensembl chr10:45,278,737...45,335,340
JBrowse link
G Nt5m 5',3'-nucleotidase, mitochondrial ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,652,845...44,680,549
Ensembl chr10:44,652,975...44,679,150
JBrowse link
G Pemt phosphatidylethanolamine N-methyltransferase ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,775,910...44,849,990
Ensembl chr10:44,775,911...44,850,013
JBrowse link
G Pld6 phospholipase D family, member 6 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome | ClinVar Annotator: match by term: Hornstein-Knickenberg syndrome ClinVar PMID:15852235 PMID:20188345 PMID:28492532 NCBI chr10:44,577,740...44,581,686
Ensembl chr10:44,577,675...44,581,077
JBrowse link
G Rai1 retinoic acid induced 1 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,913,231...45,008,232
Ensembl chr10:44,947,909...45,008,232
JBrowse link
G Rasd1 ras related dexamethasone induced 1 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:44,766,451...44,775,773
Ensembl chr10:44,766,455...44,768,186
JBrowse link
G Srebf1 sterol regulatory element binding transcription factor 1 ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,007,637...45,029,650
Ensembl chr10:45,007,637...45,029,650
JBrowse link
G Tnfrsf13b TNF receptor superfamily member 13B ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,801,860...45,824,932
Ensembl chr10:45,801,860...45,822,987
JBrowse link
G Tom1l2 target of myb1 like 2 membrane trafficking protein ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,036,034...45,158,168
Ensembl chr10:45,036,035...45,158,032
JBrowse link
G Top3a DNA topoisomerase III alpha ISO ClinVar Annotator: match by term: Birt-Hogg-Dube Syndrome ClinVar PMID:20188345 PMID:28492532 NCBI chr10:45,419,219...45,457,356
Ensembl chr10:45,419,217...45,457,559
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21089
    syndrome 10784
      Birt-Hogg-Dube syndrome 22
Path 2
Term Annotations click to browse term
  disease 21089
    Developmental Disease 18391
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 18246
        genetic disease 18183
          monogenic disease 10160
            autosomal genetic disease 9299
              autosomal dominant disease 6170
                Birt-Hogg-Dube syndrome 22
paths to the root