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
Accession: DOID:0050676
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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
xref: EFO:0700020 ; EFO:1001273 ; GARD:2322 ; MESH:D058249 ; MIM:135150 ; MIM:620459 ; MONDO:0007607 ; MONDO:0800444 ; NCI:C28244 ; OMIA:001335; ORDO:122
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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
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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
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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
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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
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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
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Flcn
folliculin
ISO ISS
DNA:mutations:multiple (human) 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 | ClinVar Annotator: match by term: FIBROFOLLICULOMAS WITH TRICHODISCOMAS AND ACROCHORDONS OMIM:135150 CTD Direct Evidence: marker/mechanism
ClinVar MouseDO OMIM CTD RGD
PMID:9536098 PMID:12204536 PMID:12471204 PMID:12843323 PMID:14627671 PMID:15657874 PMID:15805188 PMID:15852235 PMID:15956655 PMID:16199547 PMID:17028174 PMID:17034545 PMID:17124507 PMID:17133269 PMID:17496196 PMID:17576681 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:19801896 PMID:19802896 PMID:19850877 PMID:20188345 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:23052100 PMID:23155228 PMID:23217326 PMID:23264078 PMID:23356225 PMID:23364595 PMID:23386036 PMID:23414156 PMID:23757202 PMID:23784378 PMID:23848572 PMID:23874397 PMID:24033266 PMID:24055113 PMID:24297131 PMID:24346394 PMID:24393238 PMID:24726356 PMID:24728327 PMID:24910976 PMID:25059020 PMID:25126726 PMID:25302759 PMID:25326637 PMID:25401301 PMID:25500447 PMID:25519458 PMID:25525159 PMID:25537564 PMID:25594584 PMID:25610687 PMID:25637381 PMID:25640679 PMID:25741868 PMID:25807935 PMID:25827758 PMID:26028485 PMID:26334087 PMID:26402642 PMID:26467025 PMID:26580448 PMID:26603437 PMID:26659639 PMID:26689913 PMID:26763815 PMID:26928018 PMID:27072130 PMID:27146957 PMID:27153395 PMID:27220747 PMID:27229674 PMID:27257988 PMID:27258496 PMID:27355777 PMID:27356891 PMID:27470329 PMID:27642565 PMID:27643397 PMID:27652079 PMID:27722904 PMID:27734835 PMID:27905298 PMID:27906882 PMID:28007907 PMID:28031834 PMID:28151982 PMID:28202063 PMID:28492532 PMID:28539984 PMID:28558743 PMID:28569218 PMID:28724667 PMID:28785590 PMID:28805452 PMID:28839995 PMID:28869776 PMID:28873162 PMID:28944238 PMID:28970150 PMID:29157599 PMID:29357828 PMID:29548312 PMID:29641532 PMID:29720200 PMID:30190612 PMID:30360018 PMID:30533232 PMID:30548481 PMID:30580288 PMID:30586397 PMID:30632664 PMID:30923304 PMID:31266032 PMID:31471370 PMID:31615547 PMID:31672913 PMID:31704029 PMID:31958439 PMID:32091409 PMID:32782288 PMID:33137092 PMID:33294559 PMID:33313181 PMID:33482948 PMID:33726816 PMID:33927747 PMID:34000505 PMID:34008892 PMID:34067022 PMID:34148334 PMID:34229741 PMID:34326862 PMID:34604083 PMID:34654685 PMID:34703430 PMID:35126451 PMID:35176117 PMID:35221599 PMID:35441217 PMID:35477461 PMID:35495172 PMID:35578266 PMID:35637701 PMID:35639097 PMID:35691222 PMID:35946080 PMID:36095024 PMID:36315513 PMID:36410626 PMID:12204536 More...
RGD:1598946
NCBI chr10:44,588,621...44,607,808
Ensembl chr10:44,588,624...44,607,769
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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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
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