{
  "id": 10573,
  "label": "Mowat-Wilson syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009341",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6799
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2490",
          "ICD9:742",
          "MEDGEN:105425",
          "NCIT:C97172",
          "UMLS:C0497552"
        ],
        "synonyms": [
          "congenital abnormality of the nervous system",
          "congenital nervous system disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "An abnormality of the nervous system that is present at birth or detected in the neonatal period."
      },
      "child_count": 217,
      "reference_id": "MONDO:0002320"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019832",
          "MEDGEN:1826158",
          "Orphanet:102283",
          "UMLS:C5680372"
        ],
        "synonyms": [
          "MCA/MR",
          "multiple congenital anomalies-intellectual disability with or without dysmorphism",
          "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
        ]
      },
      "child_count": 338,
      "reference_id": "MONDO:0015159"
    },
    {
      "id": 16437,
      "label": "monogenic epilepsy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6761
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020086",
          "MEDGEN:1842675",
          "Orphanet:166472",
          "UMLS:C5680430"
        ],
        "synonyms": [
          "monogenic disease with epilepsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0015653"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2961,
        23914
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Autosomal dominant form of syndromic intellectual disability."
      },
      "child_count": 68,
      "reference_id": "MONDO:0100601"
    }
  ],
  "children": [
    {
      "id": 17280,
      "label": "Mowat-Wilson syndrome due to monosomy 2q22",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10573,
        17320
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016855"
    },
    {
      "id": 17281,
      "label": "Mowat-Wilson syndrome due to a ZEB2 point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        10573
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0016856"
    }
  ],
  "roots": [
    {
      "id": 4427,
      "label": "congenital nervous system disorder"
    },
    {
      "id": 16087,
      "label": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability"
    },
    {
      "id": 16437,
      "label": "monogenic epilepsy"
    },
    {
      "id": 24323,
      "label": "autosomal dominant syndromic intellectual disability"
    }
  ]
}