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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
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congenital central hypoventilation syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ascl1 achaete-scute family bHLH transcription factor 1 JBrowse link 7 28,038,662 28,040,504 RGD:7240710
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:734643
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:7240710
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:7240710
G Pah phenylalanine hydroxylase JBrowse link 7 28,066,639 28,129,772 RGD:8554872
G Phox2b paired-like homeobox 2b JBrowse link 14 42,711,169 42,718,707 RGD:7240710
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:7240710
G Tlx3 T-cell leukemia, homeobox 3 JBrowse link 10 18,128,869 18,131,745 RGD:13592920

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  disease 16022
    syndrome 6143
      congenital central hypoventilation syndrome 8
Path 2
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  disease 16022
    disease of anatomical entity 15275
      nervous system disease 10770
        central nervous system disease 8860
          brain disease 8147
            disease of mental health 5775
              sleep disorder 136
                Dyssomnias 116
                  Intrinsic Sleep Disorders 92
                    sleep apnea 61
                      central sleep apnea 12
                        congenital central hypoventilation syndrome 8
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