{
  "id": 17280,
  "label": "Mowat-Wilson syndrome due to monosomy 2q22",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016855",
  "properties": {
    "xrefs": [
      "GARD:0017248",
      "MEDGEN:1723926",
      "Orphanet:261537",
      "UMLS:C5437617"
    ],
    "synonyms": [
      "Hirschsprung disease and intellectual disability due to 2q22 microdeletion",
      "Hirschsprung disease and intellectual disability due to del(2)(q22)",
      "Hirschsprung disease and intellectual disability due to monosomy 2q22",
      "Mowat-Wilson syndrome due to 2q22 microdeletion",
      "Mowat-Wilson syndrome due to del(2)q(22)",
      "Mowat-Wilson syndrome due to monosomy type 2q22"
    ],
    "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"
    },
    {
      "id": 17320,
      "label": "partial deletion of the long arm of chromosome 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17292
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:162770",
          "MESH:C538315",
          "Orphanet:262010",
          "UMLS:C0795804",
          "icd11.foundation:754787315"
        ],
        "synonyms": [
          "partial deletion of chromosome 2q",
          "partial deletion of the long arm of chromosome type 2",
          "partial monosomy of chromosome 2q",
          "partial monosomy of the long arm of chromosome 2",
          "2q deletion",
          "2q monosomy",
          "chromosome 2q deletion",
          "deletion 2q",
          "monosomy 2q",
          "partial monosomy 2q"
        ],
        "definition": "Chromosome 2q deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2q deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person."
      },
      "child_count": 9,
      "reference_id": "MONDO:0016901"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 10573,
      "label": "Mowat-Wilson syndrome"
    },
    {
      "id": 17320,
      "label": "partial deletion of the long arm of chromosome 2"
    }
  ]
}