{
  "id": 10312,
  "label": "cystic fibrosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009061",
  "properties": {
    "xrefs": [
      "DOID:1485",
      "GARD:0006233",
      "ICD10CM:E84",
      "ICD10WHO:E84",
      "ICD9:277.0",
      "MEDGEN:41393",
      "MESH:D003550",
      "MedDRA:10011762",
      "NANDO:1200922",
      "NANDO:1201021",
      "NANDO:2100035",
      "NANDO:2200205",
      "NCIT:C2975",
      "NORD:1026",
      "OMIM:219700",
      "Orphanet:586",
      "SCTID:190905008",
      "UMLS:C0010674",
      "icd11.foundation:514403112"
    ],
    "synonyms": [
      "CF",
      "cystic fibrosis",
      "cystic fibrosis lung disease, modifier of",
      "mucoviscidosis",
      "pseudomonas aeruginosa, susceptibility to chronic infection by, in cystic fibrosis",
      "fibrocystic disease of the pancreas"
    ],
    "categories": [
      {
        "ref": "MONDO:0005087",
        "name": "respiratory system disorder"
      }
    ],
    "definition": "Autosomal recessive disorder caused by pathogenic variants in the CFTR gene (cystic fibrosis transmembrane conductance regulator), which encodes a chloride and bicarbonate channel expressed in epithelial cells, and follow the diagnosis criteria. Diagnosis requires evidence of CFTR dysfunction, defined as a sweat chloride concentration of 60 mmol/L or greater, or identification of two CF-causing CFTR pathogenic variants, or an abnormal nasal potential difference measurement. CF is a progressive, multi-organ disease characterized by chronic obstructive lung disease with recurrent infections, exocrine pancreatic insufficiency, intestinal obstruction (including meconium ileus in neonates), male infertility due to obstructive azoospermia, hepatobiliary complications, and elevated sweat chloride concentrations."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 6815,
      "label": "respiratory system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1579",
          "EFO:0000684",
          "ICD10CM:J00-J99",
          "ICD9:460-519",
          "ICD9:500-508",
          "ICD9:503",
          "ICD9:508",
          "ICD9:508.1",
          "ICD9:508.8",
          "ICD9:508.9",
          "ICD9:510-519",
          "ICD9:516",
          "ICD9:516.8",
          "ICD9:516.9",
          "ICD9:517",
          "ICD9:517.8",
          "ICD9:519",
          "ICD9:519.1",
          "ICD9:519.3",
          "ICD9:519.8",
          "ICD9:519.9",
          "ICD9:V12.60",
          "ICD9:V47.2",
          "MEDGEN:48421",
          "MESH:D012140",
          "NANDO:1100010",
          "NCIT:C26871",
          "SCTID:50043002",
          "UMLS:C0035204"
        ],
        "synonyms": [
          "disease of respiratory system",
          "disease or disorder of respiratory system",
          "disorder of respiratory system",
          "respiratory disease",
          "respiratory disorder",
          "respiratory system disease",
          "respiratory system disease or disorder",
          "respiratory system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the respiratory system. Representative examples include pneumonia, chronic obstructive pulmonary disease, pulmonary failure, lung adenoma, lung carcinoma, and tracheal carcinoma."
      },
      "child_count": 59,
      "reference_id": "MONDO:0005087"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    }
  ],
  "children": [
    {
      "id": 10313,
      "label": "cystic fibrosis-gastritis-megaloblastic anemia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        10312
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003303",
          "MEDGEN:812585",
          "MESH:C537039",
          "OMIM:219721",
          "Orphanet:2575",
          "SCTID:720401009",
          "UMLS:C3806255"
        ],
        "synonyms": [
          "Lubani-Al Saleh-Teebi syndrome",
          "Lubani Al Saleh Teebi syndrome",
          "cystic fibrosis gastritis megaloblastic anaemia",
          "cystic fibrosis gastritis megaloblastic anemia",
          "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and intellectual disability",
          "cystic fibrosis with Helicobacter pylori gastritis, megaloblastic anemia, and mental retardation",
          "cystic fibrosis, Helicobacter pylori gastritis, megaloblastic anemia, subnormal mentality and minor anomalies"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005087",
            "name": "respiratory system disorder"
          }
        ],
        "definition": "A rare genetic disease reported in two siblings of consanguineous Arab parents and is characterized by cystic fibrosis, gastritis associated with Helicobacter pylori, folate deficiency megaloblastic anemia, and intellectual disability. There have been no further descriptions in the literature since 1991."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009062"
    }
  ],
  "roots": [
    {
      "id": 6815,
      "label": "respiratory system disorder"
    },
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    }
  ]
}