{
  "id": 11410,
  "label": "intestinal pseudoobstruction, neuronal, chronic idiopathic, X-linked",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0010232",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "id": 15106,
      "label": "congenital short bowel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383,
        21546
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0014097"
    },
    {
      "id": 17855,
      "label": "chronic intestinal pseudoobstruction",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4829,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012744",
          "MEDGEN:536759",
          "NANDO:1200458",
          "NANDO:2200946",
          "NORD:970",
          "Orphanet:2978",
          "SCTID:235828008",
          "UMLS:C0238062"
        ],
        "synonyms": [
          "CIPO",
          "Chronic Intestinal Pseudo-Obstruction",
          "chronic intestinal pseudo-obstruction",
          "cipo",
          "intestinal pseudo-obstruction, chronic"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth."
      },
      "child_count": 10,
      "reference_id": "MONDO:0017574"
    },
    {
      "id": 24405,
      "label": "idiopathic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29381
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:548250",
          "UMLS:C0277553"
        ],
        "synonyms": [
          "idiopathic disorder"
        ],
        "definition": "A disease or disorder for which the cause is of uncertain or unknown."
      },
      "child_count": 79,
      "reference_id": "MONDO:0700007"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 15106,
      "label": "congenital short bowel syndrome"
    },
    {
      "id": 17855,
      "label": "chronic intestinal pseudoobstruction"
    },
    {
      "id": 24405,
      "label": "idiopathic disease"
    }
  ]
}