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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;   Congenital Ondine curse;   Idiopathic congenital central alveolar hypoventilation;   Ondine curse;   Ondine syndrome;   Ondine-Hirschsprung disease;   congenital central alveolar hypoventilation syndrome;   congenital central hypoventilation;   congenital failure of autonomic control;   primary alveolar hypoventilation
 narrow_synonym: CCHS WITH HIRSCHSPRUNG DISEASE;   Central hypoventilation syndrome, congenital, with hirschsprung disease;   HADDAD SYNDROME;   OHD;   ONDINE CURSE, CONGENITAL ONDINE-HIRSCHSPRUNG DISEASE
 primary_id: MESH:C536209
 alt_id: OMIM:209880;   RDO:0001688
 xref: GARD:8535;   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 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
RGD:8554872
G Bdnf brain-derived neurotrophic factor JBrowse link 3 100,768,637 100,819,216 RGD:734643
RGD:8554872
G Edn3 endothelin 3 JBrowse link 3 172,856,730 172,879,276 RGD:7240710
RGD:8554872
RGD:11554173
G Gdnf glial cell derived neurotrophic factor JBrowse link 2 56,884,181 56,912,964 RGD:7240710
RGD:8554872
RGD:11554173
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
RGD:8554872
RGD:11554173
RGD:12910557
RGD:11058834
G Ret ret proto-oncogene JBrowse link 4 150,202,170 150,249,196 RGD:7240710
RGD:8554872
RGD:11554173
G Tlx3 T-cell leukemia, homeobox 3 JBrowse link 10 18,128,869 18,131,745 RGD:13592920

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      congenital central hypoventilation syndrome 8
Path 2
Term Annotations click to browse term
  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        central nervous system disease 6892
          brain disease 6396
            disease of mental health 4314
              sleep disorder 127
                Dyssomnias 114
                  Sleep Disorders, Intrinsic 91
                    sleep apnea 60
                      central sleep apnea 12
                        congenital central hypoventilation syndrome 8
paths to the root