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: Hyperventilation
Accession: DOID:9006680
browse the term
Definition: A pulmonary ventilation rate faster than is metabolically necessary for the exchange of gases. It is the result of an increased frequency of breathing, an increased tidal volume, or a combination of both. It causes an excess intake of oxygen and the blowing off of carbon dioxide.
Synonyms: exact_synonym: hyperventilations
primary_id: MESH:D006985
For additional species annotation, visit the
Alliance of Genome Resources .
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Ahr
aryl hydrocarbon receptor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21115475
NCBI chr 6:54,963,990...55,001,806
Ensembl chr 6:54,963,990...55,001,464
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Camk2b
calcium/calmodulin-dependent protein kinase II beta
ISO
ClinVar Annotator: match by term: Hyperventilation
ClinVar
PMID:25741868 PMID:29100089 PMID:32581362
NCBI chr14:86,208,876...86,297,727
Ensembl chr14:86,208,901...86,297,652
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Vav3
vav guanine nucleotide exchange factor 3
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:21115475
NCBI chr 2:212,247,061...212,585,818
Ensembl chr 2:212,247,451...212,585,818
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Cntnap2
contactin associated protein 2
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1 ClinVar Annotator: match by term: Cortical dysplasia-focal epilepsy syndrome ClinVar Annotator: match by term: PITT-HOPKINS-LIKE SYNDROME 1
OMIM ClinVar
PMID:6564677 PMID:9536098 PMID:11568923 PMID:16571880 PMID:17576681 PMID:18179895 PMID:18414213 PMID:19302947 PMID:19896112 PMID:20711234 PMID:21827697 PMID:22031302 PMID:22872700 PMID:23714751 PMID:24083349 PMID:24807205 PMID:25167861 PMID:25621974 PMID:25640679 PMID:25741868 PMID:26467025 PMID:26843181 PMID:27066544 PMID:27439707 PMID:27621318 PMID:27734276 PMID:27747449 PMID:28440294 PMID:28492532 PMID:29358611 PMID:29788201 PMID:31875159 PMID:32860008
NCBI chr 4:74,700,539...77,025,463
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Cul1
cullin 1
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
ClinVar
PMID:16571880 PMID:22872700 PMID:28492532
NCBI chr 4:77,211,814...77,283,369
Ensembl chr 4:77,211,692...77,280,250
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Ezh2
enhancer of zeste 2 polycomb repressive complex 2 subunit
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
ClinVar
PMID:16571880 PMID:22872700 PMID:28492532
NCBI chr 4:77,284,404...77,347,011
Ensembl chr 4:77,284,404...77,347,011
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Tpk1
thiamin pyrophosphokinase 1
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 1
ClinVar
PMID:27439707
NCBI chr 4:72,792,252...73,174,179
Ensembl chr 4:72,792,252...73,174,179
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Cntnap2
contactin associated protein 2
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome DNA:deletions: :
CTD ClinVar
PMID:18414213 PMID:19896112 PMID:25741868 PMID:26467025 PMID:27747449 PMID:28492532 , PMID:19896112
RGD:13450912
NCBI chr 4:74,700,539...77,025,463
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Nrxn1
neurexin 1
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome
CTD ClinVar
PMID:19896112 PMID:28492532
NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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Tcf4
transcription factor 4
ISO
ClinVar Annotator: match by term: Pitt-Hopkins syndrome CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by OMIM:610954 ClinVar Annotator: match by null
OMIM ClinVar CTD
PMID:9536098 PMID:12032737 PMID:12848929 PMID:16531728 PMID:17436254 PMID:17436255 PMID:17576681 PMID:18414213 PMID:18728071 PMID:18992165 PMID:19235238 PMID:19938247 PMID:21671391 PMID:22045651 PMID:22460224 PMID:22777675 PMID:22934316 PMID:23248353 PMID:24077912 PMID:24088041 PMID:24126932 PMID:25167861 PMID:25326635 PMID:25326637 PMID:25741868 PMID:26010163 PMID:26350204 PMID:26467025 PMID:26621827 PMID:26633545 PMID:26993267 PMID:28166811 PMID:28492532 PMID:28554332 PMID:28631899 PMID:28708303 PMID:28807867 PMID:29318938 PMID:29695756 PMID:32581362 PMID:32860008 PMID:33624935
NCBI chr18:65,285,320...65,507,983
Ensembl chr18:65,155,685...65,507,977
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Fbxo11
F-box protein 11
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:11,662,356...11,737,427
Ensembl chr 6:11,662,356...11,686,682
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Foxn2
forkhead box N2
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:12,158,127...12,205,450
Ensembl chr 6:12,179,227...12,205,446
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Fshr
follicle stimulating hormone receptor
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:12,796,383...12,997,817
Ensembl chr 6:12,796,383...12,997,817
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Gtf2a1l
general transcription factor 2A subunit 1 like
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:12,412,198...12,468,613
Ensembl chr 6:12,415,805...12,468,596
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Kcnk12
potassium two pore domain channel subfamily K member 12
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:11,373,917...11,494,459
Ensembl chr 6:11,373,917...11,494,459
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Lhcgr
luteinizing hormone/choriogonadotropin receptor
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:12,493,182...12,554,482
Ensembl chr 6:12,493,943...12,554,439
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Msh2
mutS homolog 2
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:11,215,951...11,274,916
Ensembl chr 6:11,215,963...11,274,932
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Msh6
mutS homolog 6
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:11,644,565...11,662,389
Ensembl chr 6:11,644,578...11,662,499
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Nrxn1
neurexin 1
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2 ClinVar Annotator: match by OMIM:614325
OMIM ClinVar
PMID:2504536 PMID:9536098 PMID:17034946 PMID:17576681 PMID:18179900 PMID:18414213 PMID:18490107 PMID:19896112 PMID:20347009 PMID:20468056 PMID:20848651 PMID:21288692 PMID:21424692 PMID:21681106 PMID:21827697 PMID:21964664 PMID:22405623 PMID:22504536 PMID:22617343 PMID:23207424 PMID:23472757 PMID:23495017 PMID:23533028 PMID:23849776 PMID:24832020 PMID:25149956 PMID:25326635 PMID:25408897 PMID:25614873 PMID:25661985 PMID:25741868 PMID:26325558 PMID:26350204 PMID:26467025 PMID:26742492 PMID:27195815 PMID:28166811 PMID:28289584 PMID:28492532 PMID:29221905
NCBI chr 6:13,886,757...15,191,660
Ensembl chr 6:13,886,740...15,191,660
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Ppp1r21
protein phosphatase 1, regulatory subunit 21
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:12,253,788...12,323,427
Ensembl chr 6:12,253,788...12,323,421
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Ston1
stonin 1
ISO
ClinVar Annotator: match by term: Pitt-Hopkins-like syndrome 2
ClinVar
PMID:28492532
NCBI chr 6:12,332,465...12,379,783
Ensembl chr 6:12,362,813...12,379,783
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