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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:central sleep apnea
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Accession:DOID:9220 term browser browse the term
Definition:A sleep apnea that is characterized by a malfunction of the basic neurological controls for breathing rate and the failure to give the signal to inhale, causing the individual to miss one or more cycles of breathing. (DO)
Synonyms:exact_synonym: Central Alveolar Hypoventilation Syndrome;   Central Apnea;   Central Sleep Apnea Syndrome;   Central Sleep Apneas;   Central Sleep Disordered Breathing;   Central Sleep-Disordered Breathings;   Newborn Primary Sleep Apneas;   Ondine Syndrome;   Primary Central Sleep Apnea;   Primary Sleep Apneas of Newborn;   central alveolar hypoventilation;   central alveolar hypoventilations;   central apneas;   lethal central sleep apnea;   newborn sleep apnea, primary;   secondary central sleep apnea
 primary_id: MESH:D020182
 alt_id: OMIM:107640;   OMIM:207720
 xref: NCI:C116046


show annotations for term's descendants           Sort by:
central sleep apnea term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Chat choline O-acetyltransferase ISO ClinVar Annotator: match by term: Apnea, central sleep ClinVar PMID:12548525 PMID:15701560 PMID:25741868 PMID:28492532 NCBI chr16:7,657,362...7,717,093
Ensembl chr16:7,657,362...7,717,093 		JBrowse link
G Nos3 nitric oxide synthase 3 ISO associated with heart failure; protein:decreased expression:serum RGD PMID:16806535 RGD:4892059 NCBI chr 4:10,793,834...10,814,170
Ensembl chr 4:10,793,834...10,814,166 		JBrowse link
G Tac1 tachykinin, precursor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:35,679,183...35,687,180
Ensembl chr 4:35,679,704...35,687,178 		JBrowse link
G Tacr1 tachykinin receptor 1 IMP RGD PMID:18420958 RGD:2304275 NCBI chr 4:114,920,844...115,089,733
Ensembl chr 4:114,920,844...115,089,733 		JBrowse link
congenital central hypoventilation syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... RGD:11058834, RGD:12910557 NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
G 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 More... NCBI chr 4:151,325,969...151,368,176
Ensembl chr 4:151,326,431...151,368,176 		JBrowse link
G 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 		JBrowse link
Congenital Central Hypoventilation Syndrome 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
G 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 		JBrowse link
G 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 More... NCBI chr14:41,066,012...41,069,202
Ensembl chr14:41,066,264...41,068,978 		JBrowse link
Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Congenital Central Hypoventilation Syndrome 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G 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 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      respiratory system disease 3609
        Respiration Disorders 482
          Apnea 73
            sleep apnea 66
              central sleep apnea 14
                congenital central hypoventilation syndrome + 10
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      nervous system disease 14059
        central nervous system disease 12398
          brain disease 11633
            disease of mental health 8300
              sleep disorder 153
                Dyssomnias 129
                  Intrinsic Sleep Disorders 104
                    sleep apnea 66
                      central sleep apnea 14
                        congenital central hypoventilation syndrome + 10
paths to the root