{
  "id": 20415,
  "label": "intestinal motility disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021189",
  "properties": {
    "xrefs": [
      "MEDGEN:586448",
      "UMLS:C0400865"
    ],
    "synonyms": [
      "disorder of intestinal motility"
    ],
    "categories": [
      {
        "ref": "MONDO:0004335",
        "name": "digestive system disorder"
      }
    ],
    "definition": "A disease that has its basis in the disruption of intestinal motility."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 15,
  "parents": [
    {
      "id": 6756,
      "label": "intestinal disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6151
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5295",
          "EFO:0009431",
          "ICD9:520-579",
          "ICD9:560-569",
          "ICD9:564",
          "ICD9:564.4",
          "ICD9:569",
          "ICD9:569.4",
          "ICD9:569.49",
          "ICD9:569.89",
          "ICD9:569.9",
          "ICD9:570-579",
          "ICD9:575",
          "MEDGEN:7130",
          "MESH:D007410",
          "NCIT:C26801",
          "SCTID:85919009",
          "UMLS:C0021831"
        ],
        "synonyms": [
          "disease of intestine",
          "disease or disorder of intestine",
          "disorder of intestine",
          "intestinal disease",
          "intestinal disorder",
          "intestine disease",
          "intestine disease or disorder",
          "disease, intestinal",
          "diseases, intestinal"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A non-neoplastic or neoplastic disorder that affects the small or large intestine."
      },
      "child_count": 58,
      "reference_id": "MONDO:0005020"
    }
  ],
  "children": [
    {
      "id": 10574,
      "label": "Hirschsprung disease-hearing loss-polydactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000157",
          "MEDGEN:341066",
          "MESH:C565518",
          "OMIM:235740",
          "Orphanet:2155",
          "SCTID:721221000",
          "UMLS:C1856112"
        ],
        "synonyms": [
          "Santos-Mateus-Leal syndrome",
          "Hirschsprung disease associated with polydactyly, unilateral renal agenesis, hypertelorism, and congenital deafness",
          "Hirschsprung disease with polydactyly, renal agenesis, and deafness",
          "Hirschsprung disease, deafness and polydactyly",
          "Hirschsprung disease-deafness-polydactyly syndrome",
          "Santos Mateus Leal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "An extremely rare malformative association, described in only two siblings to date, and characterized by Hirschsprung disease (defined by the presence of an aganglionic segment of variable extent in the terminal part of the colon that leads to the symptoms of intestinal obstruction including constipation and abdominal distension), polydactyly of hands and/or feet, unilateral renal agenesis, hypertelorism and congenital deafness. There have been no further descriptions in the literature since 1988."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009342"
    },
    {
      "id": 10576,
      "label": "Hirschsprung disease-nail hypoplasia-dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000584",
          "MEDGEN:344653",
          "MESH:C535615",
          "OMIM:235760",
          "Orphanet:2153",
          "SCTID:721223002",
          "UMLS:C1856110"
        ],
        "synonyms": [
          "Al Gazali-Donnai-Muller syndrome",
          "Al-Gazali-Donnai-Mueller syndrome",
          "Hirschsprung disease with hypoplastic nails and dysmorphic facial features",
          "Hirschsprung's disease, hypoplastic nails, and minor dysmorphic features"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Hirschsprung disease - nail hypoplasia - dysmorphism is a fatal malformative disorder that is characterized by Hirschsprung disease, hypoplastic nails, distal limb hypoplasia and minor craniofacial dysmorphic features (flat facies, upward slanting palpebral fissures, narrow philtrum, narrow, high arched palate, micrognathia, low set ears with abnormal helices). Hydronephrosis has also been reported. There have been no further descriptions of Hirschsprung disease - nail hypoplasia - dysmorphism syndrome in the literature since 1988."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009344"
    },
    {
      "id": 11363,
      "label": "oculogastrointestinal muscular dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20415,
        21415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005496",
          "MEDGEN:336376",
          "OMIM:277320",
          "Orphanet:1876",
          "SCTID:722060007",
          "UMLS:C1848586",
          "icd11.foundation:1205053137"
        ],
        "synonyms": [
          "visceral myopathy-familial external ophthalmoplegia syndrome",
          "familial visceral myopathy with external ophthalmoplegia",
          "intestinal pseudoobstruction with external ophthalmoplegia",
          "muscular dystrophy, oculogastrointestinal",
          "visceral myopathy - familial external ophthalmoplegia",
          "visceral myopathy, familial, with external ophthalmoplegia"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal recessively inherited neuromuscular disease characterized by ocular manifestations such as ptosis and diplopia followed by chronic diarrhea, malnutrion and intestinal peudo-obstruction."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010181"
    },
    {
      "id": 13338,
      "label": "Goldberg-Shprintzen syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        16087,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060481",
          "GARD:0009849",
          "MEDGEN:332131",
          "MESH:C537279",
          "OMIM:609460",
          "Orphanet:66629",
          "SCTID:717822006",
          "UMLS:C1836123",
          "icd11.foundation:1750921468"
        ],
        "synonyms": [
          "GOSHS",
          "Goldberg-Shprintzen megacolon syndrome",
          "Goldberg-Shprintzen syndrome",
          "megacolon-microcephaly syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A multiple malformation syndrome characterized by Hirschprung megacolon with microcephaly, hypertelorism, submucous cleft palate, short stature and learning disability."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012280"
    },
    {
      "id": 14120,
      "label": "Hirschsprung disease-ganglioneuroblastoma syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002695",
          "MEDGEN:1683967",
          "MESH:C538119",
          "Orphanet:2151",
          "UMLS:C5191058"
        ],
        "synonyms": [
          "Hirschsprung disease ganglioneuroblastoma",
          "neuroblastoma with Hirschsprung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A rare, genetic, developmental defect during embryogenesis syndrome characterized by total or partial colonic aganglionosis associated with peripheral, usually multifocal, neuroblastic tumors (ganglioneuroblastoma, neuroblastoma, ganglioneuroma). Congenital central hypoventilation syndrome, with variable severity of respiratory compromise, cardiovascular and ophthalmologic symptoms, consistent with autonomic nervous system dysfunction, is occasionally associated."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013082"
    },
    {
      "id": 14483,
      "label": "multisystemic smooth muscle dysfunction syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7065,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0012811",
          "MEDGEN:462551",
          "OMIM:613834",
          "Orphanet:404463",
          "UMLS:C3151201"
        ],
        "synonyms": [
          "ACTA2-related smooth muscle dysfunction syndrome",
          "multisystemic smooth muscle dysfunction syndrome",
          "congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy",
          "mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease."
      },
      "child_count": 6,
      "reference_id": "MONDO:0013452"
    },
    {
      "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": 14857,
      "label": "intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        20415,
        23656
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017418",
          "ICD9:777.1",
          "MEDGEN:1390359",
          "OMIM:614665",
          "Orphanet:314376",
          "SCTID:733447005",
          "UMLS:C4518781"
        ],
        "synonyms": [
          "meconium ileus",
          "GUCY2C meconium ileus",
          "meconium ileus caused by mutation in GUCY2C",
          "meconium ileus due to guanylate cyclase 2C deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Any meconium ileus in which the cause of the disease is a mutation in the GUCY2C gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013843"
    },
    {
      "id": 16850,
      "label": "Hirschsprung disease-type D brachydactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002700",
          "MEDGEN:375339",
          "MESH:C538319",
          "OMIM:306980",
          "Orphanet:2150",
          "UMLS:C1844017"
        ],
        "synonyms": [
          "Hirschsprung disease with type d brachydactyly",
          "Hirschsprung disease type d brachydactyly",
          "Hirschsprung disease with type D brachydactyly",
          "familial Hirschsprung's disease and type D brachydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Hirschsprung disease-type D brachydactyly syndrome is characterized by Hirschsprung disease and absence or hypoplasia of the nails and distal phalanges of the thumbs and great toes (type D brachydactyly). It has been described in four males from one family (two brothers and two maternal uncles). Transmission appears to be X-linked recessive but autosomal dominant inheritance with incomplete penetrance in females can not be ruled out."
      },
      "child_count": 0,
      "reference_id": "MONDO:0016294"
    },
    {
      "id": 17255,
      "label": "familial visceral myopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003443",
          "ICD9:359.89",
          "MEDGEN:120590",
          "OMIMPS:155310",
          "Orphanet:2604",
          "SCTID:63684002",
          "UMLS:C0266833",
          "icd11.foundation:1838806574"
        ],
        "synonyms": [
          "familial hollow visceral myopathy",
          "hereditary hollow visceral myopathy",
          "megaduodenum and/or megacystis",
          "pseudoobstruction idiopathic intestinal",
          "visceral myopathy familial"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "A rare hereditary myopathic degeneration of both gastrointestinal and urinary tracts that causes chronic intestinal pseudo-obstruction. It usually presents after the first decade of life with megaduodenum, megacystis and symptoms such as abdominal distension and/or pain, vomiting, constipation, diarrhea, dysphagia, and/or urinary tract infections.n."
      },
      "child_count": 4,
      "reference_id": "MONDO:0016829"
    },
    {
      "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": 18406,
      "label": "Hirschsprung disease",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        5714,
        20415,
        20691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:10487",
          "GARD:0006660",
          "ICD10CM:Q43.1",
          "MEDGEN:5559",
          "MESH:D006627",
          "MedDRA:10010539",
          "NANDO:1200903",
          "NANDO:2200945",
          "NANDO:2200948",
          "NCIT:C34700",
          "NORD:1244",
          "OMIMPS:142623",
          "Orphanet:388",
          "SCTID:204739008",
          "UMLS:C0019569",
          "icd11.foundation:1772690306"
        ],
        "synonyms": [
          "HSCR",
          "Hirschsprung disease",
          "Hirschsprung disease susceptibility",
          "Hirschsprung's disease",
          "aganglionic megacolon",
          "congenital intestinal aganglionosis",
          "congenital megacolon",
          "pelvirectal achalasia",
          "macrocolon"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Hirschsprung disease (HSCR) is a congenital intestinal motility disorder that is characterized by signs of intestinal obstruction due to the presence of an aganglionic segment of variable extent in the terminal part of the colon."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018309"
    },
    {
      "id": 19331,
      "label": "Waardenburg-Shah syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18254,
        20415,
        20691
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0005524",
          "NCIT:C124842",
          "Orphanet:897",
          "icd11.foundation:1420151003"
        ],
        "synonyms": [
          "Shah-Waardenburg syndrome",
          "WS4",
          "Waardenburg syndrome type 4",
          "Waardenburg syndrome type IV",
          "Waardenburg-Hirschsprung syndrome",
          "Waardenburg-Shah syndrome",
          "Hirschsprung disease with pigmentary anomaly",
          "Waardenburg-Hirschsprung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Waardenburg-Shah syndrome (WSS) is a neurocristopathy characterized by the association of Waardenburg syndrome (sensorineural hearing loss and pigmentary abnormalities) and Hirschsprung disease."
      },
      "child_count": 9,
      "reference_id": "MONDO:0019518"
    },
    {
      "id": 19947,
      "label": "Haddad syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016909",
          "MEDGEN:347052",
          "Orphanet:99803",
          "SCTID:719972004",
          "UMLS:C1859049",
          "icd11.foundation:1685926536"
        ],
        "synonyms": [
          "Haddad syndrome",
          "congenital central alveolar hypoventilation-Hirschsprung disease syndrome",
          "ondine-Hirschsprung disease",
          "ondine-Hirschsprung syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ],
        "definition": "Haddad syndrome is a rare congenital disorder in which congenital central hypoventilation syndrome (CCHS), or Ondine syndrome, occurs concurrently with Hirschsprung disease."
      },
      "child_count": 0,
      "reference_id": "MONDO:0020493"
    },
    {
      "id": 21723,
      "label": "megacystis-microcolon-intestinal hypoperistalsis syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        20415
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027919",
          "MEDGEN:296125",
          "OMIMPS:249210",
          "UMLS:C1608393"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004335",
            "name": "digestive system disorder"
          }
        ]
      },
      "child_count": 15,
      "reference_id": "MONDO:0025986"
    }
  ],
  "roots": [
    {
      "id": 6756,
      "label": "intestinal disorder"
    }
  ]
}