{
    "disease_id": "DOID:0060731",
    "recommended_name": {
        "id": "DOID:0060731",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060731",
        "name": "congenital central hypoventilation syndrome",
        "description": "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."
    },
    "synonyms": [
        {
            "id": "DOID:0060731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060731",
            "name": "congenital central alveolar hypoventilation syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060731",
            "name": "CCHS",
            "description": ""
        },
        {
            "id": "DOID:0060731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060731",
            "name": "Ondine curse",
            "description": ""
        },
        {
            "id": "DOID:0060731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060731",
            "name": "Ondine syndrome",
            "description": ""
        },
        {
            "id": "DOID:0060731",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060731",
            "name": "central congenital hypoventilation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease",
            "description": "A rare disease due to a severely impaired central autonomic control of breathing and dysfunction of the autonomous nervous system. The incidence is estimated to be at 1 of 200 000 livebirths. A heterozygous mutation of PHOX-2B gene is found in 90% of the patients. Association with a Hirschsprung's disease is observed in 16% of the cases. Despite a high mortality rate and a lifelong dependence to mechanical ventilation, the long-term outcome of CCHS should be ultimately improved by multidisciplinary and coordinated follow-up of the patients."
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "CCHS",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "Ondine curse",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "Ondine curse, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "Ondine syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "autonomic control, congenital failure of",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "congenital Ondine curse",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "congenital central alveolar hypoventilation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "congenital central hypoventilation",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "congenital central hypoventilation syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "Ondine curse (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "Ondine's curse (formerly)",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "central hypoventilation syndrome, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "congenital failure of autonomic control",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "idiopathic congenital central alveolar hypoventilation",
            "description": ""
        },
        {
            "id": "MONDO:0800026",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "name": "primary alveolar hypoventilation",
            "description": ""
        },
        {
            "id": "MIM:209880",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/209880",
            "name": "Central hypoventilation syndrome, congenital, 1",
            "description": "Central hypoventilation syndrome, congenital, 1"
        }
    ],
    "children": [],
    "id_list": [
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    ],
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    "crossref": [
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            "id": "DOID:0060731",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060731",
            "categories": []
        },
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            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0800026",
            "categories": []
        },
        {
            "id": "MIM:209880",
            "database": "MIM",
            "url": "https://www.omim.org/entry/209880",
            "categories": []
        }
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                }
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                    "type": "recommended"
                },
                {
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            ],
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                    "taxid": 10090,
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            ],
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                    "name": "Collagen alpha-1(IV) chain",
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                    "name": "COL4A1 NC1 domain",
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                {
                    "name": "arresten",
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                {
                    "name": "collagen IV, alpha-1 polypeptide",
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                {
                    "name": "collagen alpha-1(IV) chain isoform 2 precursor",
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                {
                    "name": "collagen alpha-1(IV) chain",
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                {
                    "name": "collagen of basement membrane, alpha-1 chain",
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            ],
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                    "name": "COL4A1",
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                {
                    "name": "BSVD1",
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                },
                {
                    "name": "BSVD",
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                },
                {
                    "name": "COL4A1s",
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                },
                {
                    "name": "COL4A1",
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                {
                    "name": "PADMAL",
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                {
                    "name": "RATOR",
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                }
            ],
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                    "id": "0060731",
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                }
            ]
        },
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            "uniprot_canonical_ac": "O43711-1",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "T-cell leukemia homeobox protein 3",
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                },
                {
                    "name": "Homeobox protein Hox-11L2",
                    "type": "synonym"
                },
                {
                    "name": "T-cell leukemia homeobox protein 3",
                    "type": "synonym"
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                {
                    "name": "homeo box 11-like 2",
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                {
                    "name": "homeobox protein Hox-11L2",
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            ],
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                    "name": "TLX3",
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                {
                    "name": "HOX11L2",
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                {
                    "name": "RNX",
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                {
                    "name": "TLX3",
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                    "id": "0060731",
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            "uniprot_canonical_ac": "Q8N1T3-1",
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                    "name": "Homo sapiens",
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            ],
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                {
                    "name": "Unconventional myosin-Ih",
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                {
                    "name": "Myosin-1H",
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                },
                {
                    "name": "unconventional myosin-Ih isoform X2",
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                }
            ],
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                    "name": "MYO1H",
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                {
                    "name": "CCHS2",
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                {
                    "name": "MYO1H",
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            ],
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                    "id": "0060731",
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            "uniprot_canonical_ac": "P52954-1",
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                {
                    "name": "Transcription factor LBX1",
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                {
                    "name": "Ladybird homeobox protein homolog 1",
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                {
                    "name": "lady bird-like homeobox",
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                {
                    "name": "ladybird homeobox homolog 1",
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                {
                    "name": "ladybird homeobox protein homolog 1",
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                {
                    "name": "transcription factor LBX1",
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                {
                    "name": "transcription factor similar to D. melanogaster homeodomain protein lady bird late",
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                    "name": "LBX1",
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                    "name": "CCHS3",
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                    "name": "HPX-6",
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                {
                    "name": "HPX6",
                    "type": "synonym"
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                {
                    "name": "LBX1H",
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                },
                {
                    "name": "LBX1",
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                {
                    "name": "homeobox",
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                    "id": "0060731",
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                    "name": "Homo sapiens",
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            ],
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                {
                    "name": "Neurotrophic factor BDNF precursor form",
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                    "name": "Abrineurin",
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                },
                {
                    "name": "Brain-derived neurotrophic factor",
                    "type": "synonym"
                },
                {
                    "name": "abrineurin",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophic factor BDNF precursor form isoform a preproprotein",
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                },
                {
                    "name": "neurotrophic factor BDNF precursor form",
                    "type": "synonym"
                },
                {
                    "name": "neurotrophin",
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                },
                {
                    "name": "proBDNF",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "BDNF",
                    "type": "recommended"
                },
                {
                    "name": "ANON2",
                    "type": "synonym"
                },
                {
                    "name": "BDNF",
                    "type": "synonym"
                },
                {
                    "name": "BULN2",
                    "type": "synonym"
                }
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                    "id": "0060731",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060731"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060731"
}