{
  "id": 17281,
  "label": "Mowat-Wilson syndrome due to a ZEB2 point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016856",
  "properties": {
    "xrefs": [
      "GARD:0017249",
      "MEDGEN:1842263",
      "Orphanet:261552",
      "UMLS:C5679681"
    ],
    "synonyms": [
      "Hirschsprung disease and intellectual disability due to a ZEB2 point mutation"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 10573,
      "label": "Mowat-Wilson syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        16437,
        24323
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060485",
          "GARD:0009673",
          "ICD9:759.89",
          "MEDGEN:341067",
          "MESH:C536990",
          "NANDO:1200663",
          "NANDO:2200981",
          "NCIT:C74999",
          "NORD:1456",
          "OMIM:235730",
          "Orphanet:2152",
          "SCTID:703535000",
          "UMLS:C1856113",
          "icd11.foundation:1985672762"
        ],
        "synonyms": [
          "Hirschsprung disease intellectual disability syndrome",
          "Hirschsprung disease-intellectual disability syndrome",
          "Mowat-Wilson syndrome",
          "microcephaly, intellectual disability, and distinct facial featrues, with or without Hirschprung disease",
          "Hirschsprung disease-mental retardation syndrome",
          "MOWS",
          "intellectual disability, microcephaly, and distinct facial features with or without Hirschsprung disease",
          "mental retardation, microcephaly, and distinct facial features with or without Hirschsprung disease",
          "microcephaly, intellectual disability, and distinct Facial features, with or without Hirschsprung disease",
          "microcephaly, mental retardation, and distinct Facial features, with or without Hirschsprung disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Mowat-Wilson syndrome (MWS) is a multiple congenital anomaly syndrome characterized by a distinct facial phenotype, intellectual disability, epilepsy, Hirschsprung disease (HSCR) and variable congenital malformations."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009341"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10573,
      "label": "Mowat-Wilson syndrome"
    }
  ]
}