{
  "id": 10361,
  "label": "congenital sucrase-isomaltase deficiency",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009114",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 6659,
      "label": "intestinal disaccharidase deficiency",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20033,
        22979
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 2,
      "reference_id": "MONDO:0004905"
    },
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19082
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021313",
          "MEDGEN:1842168",
          "Orphanet:309001",
          "UMLS:C5681069",
          "icd11.foundation:1315315105"
        ],
        "synonyms": [
          "disorder of carbohydrate absorption and transport"
        ]
      },
      "child_count": 14,
      "reference_id": "MONDO:0017706"
    }
  ],
  "children": [
    {
      "id": 17895,
      "label": "congenital sucrase-isomaltase deficiency with starch intolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025115",
          "Orphanet:306436"
        ],
        "synonyms": [
          "CSID with starch intolerance",
          "congenital sucrase-isomaltose malabsorption with starch intolerance",
          "congenital sucrose intolerance with starch intolerance",
          "disaccharide intolerance with starch intolerance"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017618"
    },
    {
      "id": 17896,
      "label": "congenital sucrase-isomaltase deficiency with minimal starch tolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025116",
          "Orphanet:306446"
        ],
        "synonyms": [
          "CSID with minimal starch tolerance",
          "congenital sucrase-isomaltose malabsorption with minimal starch tolerance",
          "congenital sucrose intolerance with minimal starch tolerance",
          "disaccharide intolerance with minimal starch tolerance"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017619"
    },
    {
      "id": 17897,
      "label": "congenital sucrase-isomaltase deficiency without starch intolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025117",
          "Orphanet:306462"
        ],
        "synonyms": [
          "CSID without starch intolerance",
          "congenital sucrase-isomaltose malabsorption without starch intolerance",
          "congenital sucrose intolerance without starch intolerance",
          "disaccharide intolerance without starch intolerance"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017620"
    },
    {
      "id": 17898,
      "label": "congenital sucrase-isomaltase deficiency with starch and lactose intolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025118",
          "Orphanet:306474"
        ],
        "synonyms": [
          "CSID with starch and lactose intolerance",
          "congenital sucrase-isomaltose malabsorption with starch and lactose intolerance",
          "congenital sucrose intolerance with starch and lactose intolerance",
          "disaccharide intolerance with starch and lactose intolerance"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017621"
    },
    {
      "id": 17899,
      "label": "congenital sucrase-isomaltase deficiency without sucrose intolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10361
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025119",
          "Orphanet:306486"
        ],
        "synonyms": [
          "CSID without sucrose intolerance",
          "congenital sucrose-isomaltose malabsorption without sucrose intolerance",
          "disaccharide intolerance without sucrose intolerance"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0017622"
    },
    {
      "id": 21197,
      "label": "global disaccharide intolerance",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10361
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0023250"
    }
  ],
  "roots": [
    {
      "id": 6659,
      "label": "intestinal disaccharidase deficiency"
    },
    {
      "id": 17944,
      "label": "disorder of carbohydrate transmembrane transport and absorption"
    }
  ]
}