{
  "id": 15106,
  "label": "congenital short bowel syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014097",
  "properties": {
    "xrefs": [
      "GARD:0016592",
      "MEDGEN:1784105",
      "Orphanet:2301",
      "SCTID:715201005",
      "UMLS:C5441717",
      "icd11.foundation:1672462112"
    ],
    "synonyms": [
      "CSBS",
      "congenital short bowel syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "Congenital short bowel syndrome is a rare intestinal disorder of neonates of unknown etiology. Patients are born with a short small bowel (less than 75 cm in length) that compromises proper intestinal absorption and leads chronic diarrhea, vomiting and failure to thrive."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    },
    {
      "id": 21546,
      "label": "small intestine disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6756
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:574283",
          "SCTID:119522002",
          "UMLS:C0341268"
        ],
        "synonyms": [
          "disease of small intestine",
          "disease or disorder of small intestine",
          "disorder of small intestine",
          "small intestine disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A disease that involves the small intestine."
      },
      "child_count": 10,
      "reference_id": "MONDO:0024635"
    }
  ],
  "children": [
    {
      "id": 11410,
      "label": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        15106,
        17855,
        24405
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080681",
          "GARD:0003017",
          "MEDGEN:412536",
          "MESH:C535532",
          "OMIM:300048",
          "UMLS:C2746068"
        ],
        "synonyms": [
          "congenital short bowel syndrome, X-linked recessive",
          "intestinal pseudoobstruction, neuronal, X-linked recessive",
          "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",
          "CIIP",
          "CIIP X-linked",
          "CIIPX",
          "Ciip, X-linked",
          "Ipox",
          "congenital idiopathic intestinal pseudoobstruction",
          "congenital short bowel syndrome, X-linked",
          "intestinal pseudoobstruction neuronal chronic idiopathic X-linked",
          "intestinal pseudoobstruction, neuronal, chronic idiopathic, with central nervous system involvement"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Intestinal pseudo-obstruction is a condition characterized by impairment of the muscle contractions that move food through the digestive tract. The condition may arise from abnormalities of the gastrointestinal muscles themselves (myogenic) or from problems with the nerves that control the muscle contractions (neurogenic). When intestinal pseudo-obstruction occurs by itself, it is called primary or idiopathic (unknown cause) intestinal pseudo-obstruction. The disorder can also develop as a complication of another medical condition; in these cases, it is called secondary intestinal pseudo-obstruction. Individuals with this condition have symptoms that resemble those of an intestinal blockage (obstruction) but without any obstruction. It may be acute or chronic and is characterized by the presence of dilation of the bowel on imaging. The causes may be unknown or due to alterations (mutations) in the FLNA gene, other genes or are secondary to other conditions. It may be inherited in some cases. Intestinal pseudoobstruction neuronal chronic idiopathic X-linked is caused by alterations (mutations) in the FLNA gene which is located in the X chromosome. There is no specific treatment but several medications and procedures may be used to treat the symptoms."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010232"
    },
    {
      "id": 20125,
      "label": "congenital short bowel syndrome, autosomal recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        15106
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0018585",
          "OMIM:615237"
        ],
        "synonyms": [
          "CSBS",
          "congenital short bowel syndrome",
          "congenital short bowel syndrome 1",
          "congenital short bowel syndrome due to CLMP variation"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020718"
    }
  ],
  "roots": [
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    },
    {
      "id": 21546,
      "label": "small intestine disorder"
    }
  ]
}