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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:congenital central hypoventilation syndrome
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Accession:DOID:0060731 term browser browse the term
Definition:An autonomic nervous system disease characterized by reduced responsiveness of the respiratory center to carbon dioxide, diminished pupillary light responses, and other symptoms related to defects in the autonomic nervous system and that has_material_basis_in most commonly heterozygous mutation in the PHOX2B gene on chromosome 4p13 and less frequently mutations in the RET, GDNF, EDN3, BDNF, or ASCL1 genes. (DO)
Synonyms:exact_synonym: CCHS;   Ondine curse;   Ondine syndrome;   Ondine-Hirschsprung disease;   congenital Ondine curse;   congenital central alveolar hypoventilation syndrome;   congenital central hypoventilation;   congenital failure of autonomic control;   idiopathic congenital central alveolar hypoventilation;   primary alveolar hypoventilation
 narrow_synonym: OHD;   central hypoventilation syndrome, late-onset
 primary_id: MESH:C536209
 xref: EFO:0020025;   GARD:8535;   ICD10CM:G47.3;   NCI:C98889;   OMIM:PS209880;   ORDO:661


show annotations for term's descendants           Sort by:
congenital central hypoventilation syndrome term browser
Symbol Object Name Qualifiers 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 Qualifiers 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 susceptibility 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 Qualifiers 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 Qualifiers 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 18969
    physical disorder 4965
      congenital central hypoventilation syndrome 10
        Congenital Central Hypoventilation Syndrome 1 3
        Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction 1
        Congenital Central Hypoventilation Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      nervous system disease 14090
        central nervous system disease 12430
          brain disease 11668
            disease of mental health 8318
              sleep disorder 153
                Dyssomnias 129
                  Intrinsic Sleep Disorders 104
                    sleep apnea 66
                      central sleep apnea 14
                        congenital central hypoventilation syndrome 10
                          Congenital Central Hypoventilation Syndrome 1 3
                          Congenital Central Hypoventilation Syndrome 2 and Autonomic Dysfunction 1
                          Congenital Central Hypoventilation Syndrome 3 1
paths to the root