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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: CCHS with Hirschsprung disease;   HADDAD SYNDROME;   OHD;   congenital central hypoventilation syndrome with Hirschsprung disease
 primary_id: MESH:C536209
 alt_id: OMIM:209880
 xref: GARD:8535;   ICD10CM:G47.3;   ORDO:661
For additional species annotation, visit the Alliance of Genome Resources.


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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 Annotator: match by OMIM:209880
OMIM
ClinVar
PMID:14532329 NCBI chr 7:28,038,662...28,040,504
Ensembl chr 7:28,038,662...28,040,510
JBrowse link
G Bdnf brain-derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:11840487, PMID:25741868, PMID:11840487 RGD:734643 NCBI chr 3:100,768,637...100,819,216
Ensembl chr 3:100,768,637...100,819,210
JBrowse link
G Edn3 endothelin 3 ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8696331, PMID:19556619, PMID:24033266, PMID:28492532 NCBI chr 3:172,856,730...172,879,276
Ensembl chr 3:172,856,733...172,880,450
JBrowse link
G Gdnf glial cell derived neurotrophic factor ISO ClinVar Annotator: match by term: Congenital Ondine curse
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:8896568, PMID:8896569, PMID:9215674, PMID:9497256, PMID:11565554, PMID:11823451, PMID:12640453, PMID:19184120, PMID:22729463, PMID:24033266 NCBI chr 2:56,884,181...56,912,964
Ensembl chr 2:56,887,987...56,910,238
JBrowse link
G Pah phenylalanine hydroxylase ISO ClinVar Annotator: match by term: Congenital central hypoventilation ClinVar PMID:14532329 NCBI chr 7:28,066,639...28,129,772
Ensembl chr 7:28,066,635...28,129,769
JBrowse link
G Phox2b paired-like homeobox 2b ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
DNA:repeats
DNA:duplication: :c.691_698dup (human)
OMIM
ClinVar
CTD
PMID:12640453, PMID:14566559, PMID:14608649, PMID:14709596, PMID:15024693, PMID:15121777, PMID:15334515, PMID:15338462, PMID:16763219, PMID:16830328, PMID:16888290, PMID:17637745, PMID:17765533, PMID:18079495, PMID:19011468, PMID:20208042, PMID:20301600, PMID:24033266, PMID:24728327, PMID:25326635, PMID:25741868, PMID:26063465, PMID:28492532, PMID:29098737, PMID:29543228, PMID:30672101, PMID:19201717, PMID:24799442 RGD:12910557, RGD:11058834 NCBI chr14:42,711,169...42,718,707
Ensembl chr14:42,714,315...42,717,010
JBrowse link
G Ret ret proto-oncogene ISO ClinVar Annotator: match by term: Congenital central hypoventilation
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:3078962, PMID:7824936, PMID:7835899, PMID:7907913, PMID:7915165, PMID:8099202, PMID:8626834, PMID:8640806, PMID:8797874, PMID:8896569, PMID:9067749, PMID:9090527, PMID:9174404, PMID:9230192, PMID:9452077, PMID:9497256, PMID:9498388, PMID:9502784, PMID:9839497, PMID:9868860, PMID:9879991, PMID:10049754, PMID:10090908, PMID:10618407, PMID:10826520, PMID:10876191, PMID:10921886, PMID:11114642, PMID:11238493, PMID:11732489, PMID:12019403, PMID:12086152, PMID:12410354, PMID:12566528, PMID:12640453, PMID:14557476, PMID:14633923, PMID:15184865, PMID:15386323, PMID:15741265, PMID:15858153, PMID:16118333, PMID:16325365, PMID:16532227, PMID:16839264, PMID:16849421, PMID:17108762, PMID:17316110, PMID:17384210, PMID:17466010, PMID:17590169, PMID:17605401, PMID:17704047, PMID:17895320, PMID:18058472, PMID:18062802, PMID:18063059, PMID:19445625, PMID:19958926, PMID:20013610, PMID:20039896, PMID:20041006, PMID:20369307, PMID:20456320, PMID:20473317, PMID:20497437, PMID:20516206, PMID:20532249, PMID:20979234, PMID:21134561, PMID:21479187, PMID:21711375, PMID:21810974, PMID:21995290, PMID:22174939, PMID:22274720, PMID:22584709, PMID:22648184, PMID:22703879, PMID:22729463, PMID:22837065, PMID:23084198, PMID:23259706, PMID:23341727, PMID:23468374, PMID:24033266, PMID:24055113, PMID:24134185, PMID:24336963, PMID:24361808, PMID:24617864, PMID:24728327, PMID:25425582, PMID:25440022, PMID:25501606, PMID:25637381, PMID:25741868, PMID:25759805, PMID:25810047, PMID:26034076, PMID:26071011, PMID:26559152, PMID:26580448, PMID:26845104, PMID:28125075, PMID:28492532, PMID:28946813, PMID:29625052 NCBI chr 4:150,202,170...150,249,196
Ensembl chr 4:150,202,058...150,244,372
JBrowse link
G Tlx3 T-cell leukemia, homeobox 3 ISS OMIM:209880 MouseDO NCBI chr10:18,128,869...18,131,745
Ensembl chr10:18,129,408...18,131,562
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      congenital central hypoventilation syndrome 8
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      nervous system disease 10879
        central nervous system disease 9021
          brain disease 8346
            disease of mental health 6015
              sleep disorder 144
                Dyssomnias 123
                  Intrinsic Sleep Disorders 99
                    sleep apnea 67
                      central sleep apnea 14
                        congenital central hypoventilation syndrome 8
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.