{
  "id": 6659,
  "label": "intestinal disaccharidase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0004905",
  "properties": {
    "xrefs": [
      "DOID:9868",
      "EFO:1000060",
      "ICD9:271.3",
      "MEDGEN:675093",
      "NCIT:C34731",
      "SCTID:22169002",
      "UMLS:C0699848"
    ],
    "synonyms": [
      "intestinal disaccharidase deficiency and disaccharide malabsorption",
      "intestinal disaccharide deficiency and disaccharide malabsorption"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Inherited or acquired disorders of sugar metabolism. Deficiencies of lactase, maltase or sucrase-isomaltase usually occur irreversibly and independent of one another. Congenital deficiencies are rare whereas acquired deficiencies are more common and may be seen following intestinal mucosal brush-border injury. Clinical signs include abdominal cramping, bloating, flatulence and diarrhea following dietary intake of lactose, maltose or sucrose. The clinical course leads to malabsorption of disaccharides which has implications for normal growth and development if manifested at an early age."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 1,
  "parents": [
    {
      "id": 20033,
      "label": "malabsorption syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "EFO:0009554",
          "MEDGEN:44256",
          "MESH:D008286",
          "NCIT:C3214",
          "SCTID:32230006",
          "UMLS:C0024523"
        ],
        "synonyms": [
          "malabsorption",
          "malabsorption syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A syndrome resulting from the inadequate absorption of nutrients in the small intestine. Symptoms include abdominal pain, bloating, and diarrhea."
      },
      "child_count": 9,
      "reference_id": "MONDO:0020598"
    },
    {
      "id": 22979,
      "label": "carbohydrate metabolism disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:472889",
          "NANDO:2100164",
          "SCTID:20957000",
          "UMLS:C0149670"
        ],
        "synonyms": [
          "carbohydrate metabolic process disease",
          "disorder of carbohydrate metabolic process",
          "disorder of carbohydrate metabolism"
        ],
        "definition": "A disease that has its basis in the disruption of carbohydrate metabolic process."
      },
      "child_count": 6,
      "reference_id": "MONDO:0037792"
    }
  ],
  "children": [
    {
      "id": 10361,
      "label": "congenital sucrase-isomaltase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6659,
        17944
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111633",
          "GARD:0006183",
          "ICD9:271.3",
          "MEDGEN:220924",
          "MESH:C538139",
          "MedDRA:10066387",
          "NANDO:2200908",
          "NCIT:C128190",
          "NORD:1056",
          "OMIM:222900",
          "Orphanet:35122",
          "SCTID:78373000",
          "UMLS:C1283620",
          "icd11.foundation:1817406536"
        ],
        "synonyms": [
          "CSID",
          "congenital sucrase-isomaltase deficiency",
          "congenital sucrose intolerance",
          "disaccharide intolerance",
          "genetic sucrase-isomaltose malabsorption",
          "sucrase-isomaltase deficiency",
          "SI deficiency",
          "congenital sucrose malabsorption",
          "congenital sucrose-isomaltase intolerance",
          "congenital sucrose-isomaltase malabsorption",
          "disaccharide intolerance 1",
          "disaccharide intolerance i",
          "disaccharide intolerance, 1",
          "intestinal sucrase-a-dextrinase deficiency",
          "invertase deficiency",
          "sucrase-alpha-dextrinase deficiency",
          "sucrase-isomaltase deficiency, congenital",
          "sucrose intolerance congenital",
          "sucrose intolerance, congenital",
          "sucrose isomaltose enzyme deficiency",
          "sucrose-isomaltase malabsorption, congenital",
          "sucrose-isomaltose malabsorption, congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose."
      },
      "child_count": 12,
      "reference_id": "MONDO:0009114"
    }
  ],
  "roots": [
    {
      "id": 20033,
      "label": "malabsorption syndrome"
    },
    {
      "id": 22979,
      "label": "carbohydrate metabolism disease"
    }
  ]
}