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: Hypoventilation
Accession: DOID:9003671
browse the term
Definition: A reduction in the amount of air entering the pulmonary alveoli.
Synonyms: exact_synonym: Hypoventilations
primary_id: MESH:D007040
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Ccl5
C-C motif chemokine ligand 5
ISO
associated with Obesity; protein:increased secretion:serum (human)
RGD
PMID:19701463
RGD:4892041
NCBI chr10:68,322,826...68,327,380
Ensembl chr10:68,322,829...68,327,377
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Dctn1
dynactin subunit 1
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:19136952
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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Lep
leptin
ISO
Obesity Hypoventilation Syndrome
RGD
PMID:16179823
RGD:5128870
NCBI chr 4:57,661,127...57,675,262
Ensembl chr 4:57,661,131...57,675,262
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Phox2b
paired-like homeobox 2b
ISO
RGD
PMID:14566559 PMID:12640453
RGD:1599147 , RGD:1599148
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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Ascl1
achaete-scute family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
PMID:14532329
NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
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Bdnf
brain-derived neurotrophic factor
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar RGD
PMID:11840487 PMID:25741868 PMID:28492532 PMID:11840487
RGD:734643
NCBI chr 3:96,165,042...96,215,621
Ensembl chr 3:96,165,042...96,215,615
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Edn3
endothelin 3
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome
CTD ClinVar
PMID:8696331 PMID:19556619 PMID:24033266 PMID:25741868 PMID:28492532
NCBI chr 3:163,562,307...163,586,636
Ensembl chr 3:163,562,520...163,585,093
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Gdnf
glial cell derived neurotrophic factor
ISO
CTD Direct Evidence: marker/mechanism
CTD
PMID:9497256
NCBI chr 2:56,894,022...56,919,935
Ensembl chr 2:56,895,010...56,917,209
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar
PMID:14532329
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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Phox2b
paired-like homeobox 2b
ISO ISS
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital central hypoventilation | ClinVar Annotator: match by term: Ondine-Hirschsprung disease | ClinVar Annotator: match by term: Primary alveolar hypoventilation OMIM:209880 DNA:duplication: :c.691_698dup (human) DNA:repeats
CTD ClinVar MouseDO RGD
PMID:10613788 PMID:12640453 PMID:14566559 PMID:14608649 PMID:15121777 PMID:15334515 PMID:15338462 PMID:15657873 PMID:16199547 PMID:16763219 PMID:16830328 PMID:16873766 PMID:16888290 PMID:17637745 PMID:17765533 PMID:17928950 PMID:18079495 PMID:19011468 PMID:19058226 PMID:20208042 PMID:20301600 PMID:20456320 PMID:24033266 PMID:25156769 PMID:25326635 PMID:25741868 PMID:26063465 PMID:27013732 PMID:27153395 PMID:28422456 PMID:28492532 PMID:28873162 PMID:29543228 PMID:29704303 PMID:30672101 PMID:32573669 PMID:34012823 PMID:34298581 PMID:24799442 PMID:19201717 More...
RGD:11058834 , RGD:12910557
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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Ret
ret proto-oncogene
ISO
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: Congenital Central Hypoventilation Syndrome | ClinVar Annotator: match by term: Congenital central hypoventilation
CTD ClinVar
PMID:3078962 PMID:7824936 PMID:7835899 PMID:7907913 PMID:7915165 PMID:8099202 PMID:8626834 PMID:8797874 PMID:8896569 PMID:9067749 PMID:9174404 PMID:9230192 PMID:9452077 PMID:9497256 PMID:9498388 PMID:9606292 PMID:9839497 PMID:9868860 PMID:9879991 PMID:10076558 PMID:10090908 PMID:10618407 PMID:10679286 PMID:10826520 PMID:10876191 PMID:11114642 PMID:11238493 PMID:11732489 PMID:11788682 PMID:12019403 PMID:12086152 PMID:12193298 PMID:12410354 PMID:14557476 PMID:14633923 PMID:15184865 PMID:15386323 PMID:15741265 PMID:15858153 PMID:16325365 PMID:16343097 PMID:16532227 PMID:16849421 PMID:16865647 PMID:16868135 PMID:17032739 PMID:17047083 PMID:17108762 PMID:17316110 PMID:17384210 PMID:17466010 PMID:17590169 PMID:17605401 PMID:17664273 PMID:17704047 PMID:17895320 PMID:18058472 PMID:18062802 PMID:18063059 PMID:18299477 PMID:19445625 PMID:19958926 PMID:20013610 PMID:20039896 PMID:20041006 PMID:20142552 PMID:20369307 PMID:20473317 PMID:20494215 PMID:20497437 PMID:20516206 PMID:20532249 PMID:20719260 PMID:20979234 PMID:21134561 PMID:21309721 PMID:21454698 PMID:21475823 PMID:21479187 PMID:21711375 PMID:21712996 PMID:21810974 PMID:22174939 PMID:22584709 PMID:22703879 PMID:22747440 PMID:22811860 PMID:23084198 PMID:23259706 PMID:23341727 PMID:23468374 PMID:23514012 PMID:24033266 PMID:24064755 PMID:24336963 PMID:24361808 PMID:24429398 PMID:24560924 PMID:24617864 PMID:24728327 PMID:24794695 PMID:25349307 PMID:25425582 PMID:25440022 PMID:25501606 PMID:25624014 PMID:25741868 PMID:25759805 PMID:25810047 PMID:25903693 PMID:26033033 PMID:26034076 PMID:26046350 PMID:26467025 PMID:26559152 PMID:26580448 PMID:26758973 PMID:26845104 PMID:27099842 PMID:27207748 PMID:28125075 PMID:28492532 PMID:28873162 PMID:28946813 PMID:29590403 PMID:29625052 PMID:29656518 PMID:29684080 PMID:31510104 PMID:32923848 PMID:33167350 PMID:33450337 PMID:33615670 PMID:33827484 PMID:34637071 PMID:35264596 More...
NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176
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Tlx3
T-cell leukemia, homeobox 3
ISS
OMIM:209880
MouseDO
NCBI chr10:17,789,706...17,792,207
Ensembl chr10:17,790,053...17,792,207
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Ascl1
achaete-scute family bHLH transcription factor 1
ISO
ClinVar Annotator: match by term: Haddad syndrome
ClinVar
PMID:14532329
NCBI chr 7:21,903,136...21,906,003
Ensembl chr 7:21,903,126...21,905,993
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Pah
phenylalanine hydroxylase
ISO
ClinVar Annotator: match by term: Haddad syndrome
ClinVar
PMID:14532329
NCBI chr 7:21,933,179...21,998,134
Ensembl chr 7:21,933,179...21,998,130
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Phox2b
paired-like homeobox 2b
ISO
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease | ClinVar Annotator: match by term: Haddad syndrome
ClinVar OMIM
PMID:9536098 PMID:10613788 PMID:12631670 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15024693 PMID:15121777 PMID:15334515 PMID:15338462 PMID:15657873 PMID:15888479 PMID:15949893 PMID:16199547 PMID:16249188 PMID:16763219 PMID:16830328 PMID:16873766 PMID:16888290 PMID:17576681 PMID:17637745 PMID:17765533 PMID:17928950 PMID:18079495 PMID:18292934 PMID:19011468 PMID:19058226 PMID:20208042 PMID:20301600 PMID:23754957 PMID:23873030 PMID:24033266 PMID:24728327 PMID:25156769 PMID:25741868 PMID:26063465 PMID:26375764 PMID:26580448 PMID:27013732 PMID:27153395 PMID:28371199 PMID:28422456 PMID:28433712 PMID:28492532 PMID:28873162 PMID:29098737 PMID:29543228 PMID:29641532 PMID:29696799 PMID:29704303 PMID:30092902 PMID:30672101 PMID:30850150 PMID:33958749 PMID:34012823 PMID:34298581 More...
NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978
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Myo1h
myosin IH
ISO
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 2, and autonomic dysfunction
OMIM ClinVar
PMID:25741868 PMID:28779001
NCBI chr12:42,248,942...42,300,103
Ensembl chr12:42,247,138...42,323,730
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Lbx1
ladybird homeobox 1
ISO
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, 3
OMIM ClinVar
PMID:30487221
NCBI chr 1:244,083,873...244,085,690
Ensembl chr 1:244,083,873...244,085,690
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Dctn1
dynactin subunit 1
ISO
ClinVar Annotator: match by term: Parkinsonism with alveolar hypoventilation and mental depression | ClinVar Annotator: match by term: Perry syndrome CTD Direct Evidence: marker/mechanism
OMIM ClinVar CTD RGD
PMID:12062019 PMID:12627231 PMID:15326253 PMID:16199547 PMID:16240349 PMID:16505168 PMID:17824900 PMID:18094236 PMID:18364389 PMID:18812314 PMID:18852346 PMID:19136952 PMID:19279216 PMID:19506225 PMID:20437543 PMID:20945553 PMID:22777741 PMID:23143281 PMID:23628468 PMID:23881933 PMID:24343258 PMID:24484619 PMID:24604904 PMID:24627108 PMID:24676999 PMID:25025039 PMID:25109764 PMID:25299611 PMID:25382069 PMID:25590979 PMID:25635128 PMID:25741868 PMID:26392352 PMID:26429889 PMID:26467025 PMID:26662454 PMID:26742954 PMID:27132499 PMID:27573046 PMID:28130640 PMID:28430856 PMID:28492532 PMID:28518168 PMID:28625595 PMID:28717666 PMID:28792508 PMID:29525180 PMID:32028661 PMID:32402491 PMID:32461654 PMID:32717578 PMID:33369814 PMID:33408239 PMID:33973882 PMID:35047667 PMID:20702129 PMID:19136952 More...
RGD:5534575 , RGD:5535748
NCBI chr 4:115,671,024...115,703,824
Ensembl chr 4:115,661,638...115,703,815
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