{
  "id": 10313,
  "label": "cystic fibrosis-gastritis-megaloblastic anemia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009062",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 10312,
      "label": "cystic fibrosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6815,
        7611
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009061"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 10312,
      "label": "cystic fibrosis"
    }
  ]
}