FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term congenital central hypoventilation syndrome ID (Ontology) DOID:0060731 (Human Disease)
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.
Also Known As "CCHS" ; "central congenital hypoventilation syndrome" ; "congenital central alveolar hypoventilation syndrome" (for all, see Synonyms field below)
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 Genes
 congenital central hypoventilation syndrome       2
 for disease ribbon | congenital central hypoventilation syndrome       2
 model of | congenital central hypoventilation syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal dominant disease________
disease                               |
 |__physical disorder_________________|
peripheral nervous system disease     |
 |__autonomic nervous system disease__|
                                      congenital central hypoventilation syndrome  2 rec.
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Is a autosomal dominant disease
physical disorder
autonomic nervous system disease
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Synonyms
  • "CCHS" EXACT OMO:0003012
    "central congenital hypoventilation syndrome" EXACT
    "congenital central alveolar hypoventilation syndrome" EXACT
    "Ondine curse" EXACT
    "Ondine syndrome" EXACT
Secondary IDs
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GARD:8535
ICD10CM:G47.3
MESH:C536209
MIM:209880
ORDO:661