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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;   NCI:C98889;   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 OMIM:209880
ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar PMID:14532329 NCBI chr 7:21,904,153...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:25741868 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
CTD
ClinVar
PMID:8696331 PMID:19556619 PMID:24033266 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 2:56,893,992...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 ClinVar Annotator: match by term: Congenital central hypoventilation
ClinVar Annotator: match by term: Haddad syndrome
CTD Direct Evidence: marker/mechanism
DNA:repeats
DNA:duplication: :c.691_698dup (human)
OMIM
ClinVar
CTD
RGD
PMID:9536098 PMID:12640453 PMID:14566559 PMID:14608649 PMID:14709596 More... RGD:12910557, RGD:11058834 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
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
CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 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 ClinVar
OMIM
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 17435
    physical disorder 3130
      congenital central hypoventilation syndrome 10
        CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION 1
        Congenital Central Hypoventilation Syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      nervous system disease 12209
        central nervous system disease 10477
          brain disease 9840
            disease of mental health 7119
              sleep disorder 145
                Dyssomnias 121
                  Intrinsic Sleep Disorders 97
                    sleep apnea 64
                      central sleep apnea 14
                        congenital central hypoventilation syndrome 10
                          CENTRAL HYPOVENTILATION SYNDROME, CONGENITAL, 2, AND AUTONOMIC DYSFUNCTION 1
                          Congenital Central Hypoventilation Syndrome 3 1
paths to the root