{
  "id": 3147,
  "label": "congenital diarrhea",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0000824",
  "properties": {
    "xrefs": [
      "DOID:0060774",
      "MEDGEN:1877146",
      "OMIMPS:214700",
      "UMLS:C6013449"
    ],
    "synonyms": [
      "diarrhea, congenital"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 12,
  "parents": [
    {
      "id": 3866,
      "label": "diarrheal disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13250",
          "HP:0002014",
          "ICD9:009.2",
          "MEDGEN:713159",
          "MESH:D003967",
          "NCIT:C2987",
          "SCTID:128333008",
          "UMLS:C1290807",
          "icd11.foundation:116759077"
        ],
        "synonyms": [
          "diarrhea",
          "diarrheal disease",
          "diarrheal disorder",
          "diarrhoea",
          "frequent stools",
          "loose stools",
          "diarrhoea of presumed infectious origin"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "The condition of having at least three loose or liquid bowel movements each day."
      },
      "child_count": 7,
      "reference_id": "MONDO:0001673"
    },
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 13528,
      "label": "congenital malabsorptive diarrhea 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060779",
          "GARD:0016729",
          "MEDGEN:372151",
          "MESH:C563673",
          "OMIM:610370",
          "Orphanet:83620",
          "SCTID:722392003",
          "UMLS:C1835888",
          "icd11.foundation:302560695"
        ],
        "synonyms": [
          "NEUROG3 congenital diarrhea",
          "NEUROG3 congenital diarrhoea",
          "congenital diarrhea caused by mutation in NEUROG3",
          "congenital diarrhoea caused by mutation in NEUROG3",
          "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells",
          "congenital malabsorptive diarrhea type 4",
          "congenital malabsorptive diarrhoea due to paucity of enteroendocrine cells",
          "congenital malabsorptive diarrhoea type 4",
          "enteric anendocrinosis",
          "DIAR4",
          "diarrhea 4, malabsorptive, congenital",
          "diarrhoea 4, malabsorptive, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012479"
    },
    {
      "id": 14839,
      "label": "congenital diarrhea 6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060780",
          "GARD:0017417",
          "MEDGEN:766184",
          "OMIM:614616",
          "Orphanet:314373",
          "UMLS:C3553270"
        ],
        "synonyms": [
          "GUCY2C congenital diarrhea",
          "GUCY2C congenital diarrhoea",
          "congenital diarrhea caused by mutation in GUCY2C",
          "congenital diarrhea type 6",
          "congenital diarrhoea caused by mutation in GUCY2C",
          "congenital diarrhoea type 6",
          "diarrhea type 6",
          "diarrhoea type 6",
          "DIAR6",
          "diarrhea 6",
          "diarrhoea 6"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013825"
    },
    {
      "id": 15377,
      "label": "congenital diarrhea 7 with exudative enteropathy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147,
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060778",
          "GARD:0017500",
          "MEDGEN:862953",
          "OMIM:615863",
          "Orphanet:329242",
          "UMLS:C4014516"
        ],
        "synonyms": [
          "DGAT1 congenital diarrhea",
          "DGAT1 congenital diarrhoea",
          "congenital chronic diarrhea with exudative enteropathy",
          "congenital chronic diarrhea with protein-losing enteropathy",
          "congenital diarrhea caused by mutation in DGAT1",
          "congenital diarrhoea caused by mutation in DGAT1",
          "diarrhea 7, protein-losing enteropathy type",
          "diarrhea type 7",
          "diarrhoea 7, protein-losing enteropathy type",
          "diarrhoea type 7",
          "DIAR7",
          "diarrhea 7",
          "diarrhoea 7"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Congenital chronic diarrhea with protein-losing enteropathy is a rare, genetic, intestinal disease characterized by early-onset, chronic, non-infectious, non-bloody, watery diarrhea associated with protein-losing enteropathy which results in hypoalbuminemia, hypogammaglobulinemia and elevated stool alpha-1-antitrypsin. Patients typically present severe, intractable diarrhea, failure to thrive, recurrent infections and edema."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014375"
    },
    {
      "id": 16096,
      "label": "congenital sodium diarrhea",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016945",
          "MEDGEN:78632",
          "Orphanet:103908",
          "SCTID:18805001",
          "UMLS:C0267663"
        ],
        "synonyms": [
          "Na-H exchange deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Congenital sodium diarrhea is characterized by severe watery diarrhea containing high concentrations of sodium, hyponatremia and metabolic acidosis."
      },
      "child_count": 3,
      "reference_id": "MONDO:0015170"
    },
    {
      "id": 21891,
      "label": "diarrhea 12, with microvillus atrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1794152",
          "OMIM:619445",
          "UMLS:C5561942"
        ],
        "synonyms": [
          "DIAR12",
          "diarrhea 12, with microvillus atrophy",
          "microvillus inclusion disease 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030335"
    },
    {
      "id": 22266,
      "label": "diarrhea 9",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1648425",
          "OMIM:618168",
          "UMLS:C4748517"
        ],
        "synonyms": [
          "DIAR9",
          "DIARRHEA 9"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032575"
    },
    {
      "id": 22275,
      "label": "diarrhea 10, protein-losing enteropathy type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1648311",
          "OMIM:618183",
          "UMLS:C4748579"
        ],
        "synonyms": [
          "DIAR10",
          "DIARRHEA 10, PROTEIN-LOSING ENTEROPATHY TYPE"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032586"
    },
    {
      "id": 22510,
      "label": "diarrhea 11, malabsorptive, congenital",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1684754",
          "OMIM:618662",
          "UMLS:C5231449"
        ],
        "synonyms": [
          "DIAR11",
          "DIARRHEA 11, MALABSORPTIVE, CONGENITAL",
          "Intractable Diarrhea of Infancy Syndrome",
          "Intractable Diarrhoea of Infancy Syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032857"
    },
    {
      "id": 23521,
      "label": "congenital secretory diarrhea",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2794,
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD9:579.8",
          "MEDGEN:82757",
          "SCTID:25898005",
          "UMLS:C0267661"
        ],
        "synonyms": [
          "congenital secretory diarrhea"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 10,
      "reference_id": "MONDO:0045032"
    },
    {
      "id": 25625,
      "label": "diarrhea 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1841113",
          "OMIM:620357",
          "UMLS:C5830477"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0957253"
    },
    {
      "id": 26210,
      "label": "diarrhea 14, congenital",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1876494",
          "OMIM:621160",
          "UMLS:C6012711"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976266"
    },
    {
      "id": 26212,
      "label": "diarrhea 15, congenital",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3147
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1876519",
          "OMIM:621179",
          "UMLS:C6012715"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976268"
    }
  ],
  "roots": [
    {
      "id": 3866,
      "label": "diarrheal disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}