Send us a Message



Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   

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
go back to main search page
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;   NCI:C98889;   ORDO:661
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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: Haddad syndrome
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:9536098 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 PMID:15024693 PMID:15121777 PMID:15334515 PMID:15338462 PMID:16763219 PMID:16830328 PMID:16888290 PMID:17576681 PMID:17637745 PMID:17765533 PMID:18079495 PMID:18292934 PMID:19011468 PMID:20208042 PMID:20301600 PMID:24033266 PMID:24728327 PMID:25326635 PMID:25741868 PMID:26063465 PMID:26580448 PMID:28492532 PMID:29098737 PMID:29531718 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
ClinVar Annotator: match by term: Central hypoventilation syndrome, congenital, with hirschsprung disease
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:27600092 PMID:28125075 PMID:28166811 PMID:28492532 PMID:28946813 PMID:29338689 PMID:29625052 PMID:29684080 PMID:30197081 PMID:30927507 PMID:31510104 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 17126
    physical disorder 3070
      congenital central hypoventilation syndrome 8
Path 2
Term Annotations click to browse term
  disease 17126
    disease of anatomical entity 16474
      nervous system disease 12073
        central nervous system disease 10352
          brain disease 9711
            disease of mental health 7018
              sleep disorder 142
                Dyssomnias 118
                  Intrinsic Sleep Disorders 94
                    sleep apnea 62
                      central sleep apnea 12
                        congenital central hypoventilation syndrome 8
paths to the root