{
  "id": 18502,
  "label": "Angelman syndrome due to a point mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018461",
  "properties": {
    "xrefs": [
      "GARD:0021732",
      "MEDGEN:1842258",
      "Orphanet:411511",
      "UMLS:C5681146"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8526,
      "label": "Angelman syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:4",
          "DECIPHER:54",
          "DOID:1932",
          "GARD:0005810",
          "ICD10CM:Q93.51",
          "ICD9:759.89",
          "MEDGEN:58144",
          "MESH:C531619",
          "MESH:D017204",
          "MedDRA:10049004",
          "NANDO:1200686",
          "NANDO:2200960",
          "NCIT:C75462",
          "NORD:782",
          "OMIM:105830",
          "Orphanet:72",
          "SCTID:76880004",
          "UMLS:C0162635",
          "icd11.foundation:1106558408"
        ],
        "synonyms": [
          "Angelman syndrome",
          "Angelman’s syndrome",
          "Angelman syndrome (Type 1)",
          "Angelman syndrome (Type 2)",
          "AS",
          "Angelman syndrome chromosome region",
          "happy puppet syndrome (formerly)",
          "happy puppet syndrome, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A neurogenetic disorder characterized by severe intellectual deficit and distinct facial dysmorphic features."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007113"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8526,
      "label": "Angelman syndrome"
    }
  ]
}