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: Dyspnea
Accession: DOID:9000590
browse the term
Definition: Difficult or labored breathing.
Synonyms: exact_synonym: Breath Shortness; Breath Shortnesses; Breathlessness; Breathlessnesses; Dyspneas; Shortness of Breath
primary_id: MESH:D004417
xref: EFO:0009727
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Cysltr1
cysteinyl leukotriene receptor 1
IMP
RGD
PMID:2825489
RGD:4888515
NCBI chr X:71,661,421...71,690,012
Ensembl chr X:71,663,821...71,690,121
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Edn1
endothelin 1
ISO
protein:increased secretion:urine (human)
RGD
PMID:18831711
RGD:4145071
NCBI chr17:22,454,924...22,460,812
Ensembl chr17:22,454,420...22,460,885
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F5
coagulation factor V
ISO
RGD
PMID:16186475
RGD:4892656
NCBI chr13:76,513,509...76,583,106
Ensembl chr13:76,513,255...76,582,317
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Fkrp
fukutin related protein
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:29571322
NCBI chr 1:77,479,641...77,486,954
Ensembl chr 1:77,476,084...77,486,992
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Il1rl1
interleukin 1 receptor-like 1
disease_progression
ISO
RGD
PMID:20804518
RGD:5144224
NCBI chr 9:42,661,694...42,727,266
Ensembl chr 9:42,697,192...42,727,256
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Mybpc3
myosin binding protein C3
ISO
ClinVar Annotator: match by term: Dyspnea
ClinVar
PMID:203979 PMID:2943217 PMID:9536098 PMID:17576681 PMID:20433692 PMID:20800588 PMID:23283745 PMID:24033266 PMID:25351510 PMID:25741868 PMID:28138913 PMID:28492532 PMID:28615295 PMID:28679633 PMID:30645170 PMID:30775854 PMID:31028938 More...
NCBI chr 3:77,095,165...77,113,406
Ensembl chr 3:77,095,252...77,113,405
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Myh7
myosin heavy chain 7
ISO
ClinVar Annotator: match by term: Dyspnea
ClinVar
PMID:2793070 PMID:18258667 PMID:24033266 PMID:24111713 PMID:25741868 PMID:26914223 PMID:27930701 PMID:28492532 PMID:28771489 PMID:30665703 PMID:31737537 PMID:33552729 PMID:34542152 PMID:35200695 PMID:36788754 More...
NCBI chr15:28,446,550...28,469,888
Ensembl chr15:28,446,550...28,468,217
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Nppb
natriuretic peptide B
ISO
CTD Direct Evidence: therapeutic
CTD
PMID:20339970
NCBI chr 5:158,416,813...158,418,175
Ensembl chr 5:158,416,866...158,418,168
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Adora1
adenosine A1 receptor
ISO
RGD
PMID:21388992
RGD:5129099
NCBI chr13:45,658,872...45,695,821
Ensembl chr13:45,658,872...45,695,801
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Adrb2
adrenoceptor beta 2
ISO
ClinVar Annotator: match by term: Asthma, nocturnal, susceptibility to
ClinVar
PMID:7706471 PMID:9399946 PMID:9399966 PMID:9522789 PMID:11739457 PMID:14557466 PMID:15500895 PMID:15867853 PMID:16596417 PMID:28492532 More...
NCBI chr18:55,642,459...55,644,501
Ensembl chr18:55,502,903...55,644,512
Term paths to the root one shortest all shortest one longest all longest one shortest and longest all