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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:Hyperventilation
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Accession:DOID:9006680 term browser 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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Hyperventilation term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
cortical dysplasia-focal epilepsy syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Pitt-Hopkins syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Pitt-Hopkins-like syndrome 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16909
    disease of anatomical entity 16281
      respiratory system disease 2770
        Respiration Disorders 283
          Hyperventilation 19
            Pitt-Hopkins syndrome + 16
            Respiratory Alkalosis 0
paths to the root