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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
 narrow_synonym: BHD1;   BHD2;   Birt-Hogg-Dube syndrome 1;   Birt-Hogg-Dube syndrome 2
 primary_id: MESH:D058249
 alt_id: OMIA:001335;   OMIM:135150;   OMIM:620459
 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 chr10:45,255,512...45,269,971
Ensembl chr10:45,255,507...45,269,969 		JBrowse link
G Flcn folliculin ISO
ISS		 DNA:mutations:multiple (human)
CTD Direct Evidence: marker/mechanism
OMIM:135150
ClinVar Annotator: match by term: Birt Hogg Dubé syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome | ClinVar Annotator: match by term: Birt-Hogg-Dube syndrome 1		 OMIM
CTD
MouseDO
ClinVar
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-Dube 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 chr10:45,221,556...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 chr10:44,453,949...44,573,843
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 PMID:15852235 PMID:20188345 PMID:28492532 NCBI chr10:44,578,536...44,581,187
Ensembl chr10:44,577,675...44,581,077 		JBrowse link
G Prdm10 PR/SET domain 10 ISO OMIM NCBI chr 8:29,724,011...29,827,757
Ensembl chr 8:29,724,245...29,826,080 		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 18969
    disease of cellular proliferation 7691
      Hereditary Neoplastic Syndromes 1283
        Birt-Hogg-Dube syndrome 23
Path 2
Term Annotations click to browse term
  disease 18969
    Developmental Disease 14398
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 13415
        genetic disease 13034
          monogenic disease 10418
            autosomal genetic disease 9576
              autosomal dominant disease 6308
                Birt-Hogg-Dube syndrome 23
paths to the root