{
  "id": 24781,
  "label": "central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0800026",
  "properties": {
    "xrefs": [
      "DOID:0060731",
      "GARD:0008535",
      "MEDGEN:1794285",
      "MedDRA:10007982",
      "MedDRA:10066131",
      "NCIT:C98889",
      "OMIM:209880",
      "Orphanet:661",
      "SCTID:230499002",
      "UMLS:C5562075",
      "icd11.foundation:1750742010"
    ],
    "synonyms": [
      "CCHS",
      "Ondine curse",
      "Ondine curse, congenital",
      "Ondine syndrome",
      "autonomic control, congenital failure of",
      "congenital Ondine curse",
      "congenital central alveolar hypoventilation syndrome",
      "congenital central hypoventilation",
      "congenital central hypoventilation syndrome",
      "CCHS with Hirschsprung disease",
      "Haddad syndrome",
      "Ondine curse (formerly)",
      "Ondine's curse (formerly)",
      "Ondine-Hirschsprung disease",
      "central hypoventilation syndrome, congenital",
      "congenital failure of autonomic control",
      "idiopathic congenital central alveolar hypoventilation",
      "primary alveolar hypoventilation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ],
    "definition": "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 3525,
      "label": "autonomic nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4657,
        5512
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11465",
          "EFO:0009532",
          "ICD9:337.1",
          "ICD9:337.9",
          "MEDGEN:218837",
          "MESH:D001342",
          "SCTID:128123007",
          "SCTID:15241006",
          "UMLS:C1145628",
          "icd11.foundation:1397803237"
        ],
        "synonyms": [
          "autonomic nervous disease",
          "autonomic nervous system disease",
          "autonomic nervous system disease or disorder",
          "disease of autonomic nervous system",
          "disease or disorder of autonomic nervous system",
          "disorder of autonomic nervous system",
          "disorder of peripheral autonomic nervous system",
          "disorder of the autonomic nervous system",
          "autonomic peripheral nervous system diseases",
          "dysautonomia",
          "peripheral autonomic nervous system diseases",
          "ANS (autonomic nervous system) diseases",
          "ANS disease",
          "ANS diseases",
          "autonomic central nervous system diseases",
          "autonomic disease",
          "autonomic diseases",
          "autonomic dysfunction, segmental",
          "autonomic dysfunctions, segmental",
          "autonomic nervous system disorders",
          "central autonomic nervous system diseases",
          "disorders of the autonomic nervous system",
          "nervous system diseases, autonomic",
          "nervous system diseases, sympathetic",
          "segmental autonomic dysfunction",
          "segmental autonomic dysfunctions"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A disease involving the autonomic nervous system."
      },
      "child_count": 26,
      "reference_id": "MONDO:0001292"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 20691,
      "label": "neurocristopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "disorder of neural crest cell development",
          "disorder of neural crest development",
          "neural crest cell development disease"
        ],
        "definition": "That disease that arises from defects in the development of tissues containing cells commonly derived from the embryonic neural crest cell lineage."
      },
      "child_count": 16,
      "reference_id": "MONDO:0021635"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    },
    {
      "id": 24785,
      "label": "central hypoventilation syndrome, congenital",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:220902",
          "OMIMPS:209880",
          "UMLS:C1275808"
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0800031"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 3525,
      "label": "autonomic nervous system disorder"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 20691,
      "label": "neurocristopathy"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    },
    {
      "id": 24785,
      "label": "central hypoventilation syndrome, congenital"
    }
  ]
}