{
  "id": 19783,
  "label": "Angelman syndrome due to maternal 15q11q13 deletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020302",
  "properties": {
    "xrefs": [
      "GARD:0019577",
      "MEDGEN:1797757",
      "Orphanet:98794",
      "UMLS:C5566334"
    ],
    "synonyms": [
      "Angelman syndrome due to maternal monosomy 15q11q13"
    ],
    "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"
    },
    {
      "id": 17332,
      "label": "partial deletion of the long arm of chromosome 15",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:444123",
          "MESH:C538038",
          "Orphanet:262119",
          "UMLS:C2931708"
        ],
        "synonyms": [
          "partial deletion of chromosome 15q",
          "partial deletion of the long arm of chromosome type 15",
          "partial monosomy of chromosome 15q",
          "partial monosomy of the long arm of chromosome 15",
          "15q deletion",
          "15q monosomy",
          "chromosome 15q deletion",
          "deletion 15q",
          "monosomy 15q",
          "partial monosomy 15q"
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0016913"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8526,
      "label": "Angelman syndrome"
    },
    {
      "id": 17332,
      "label": "partial deletion of the long arm of chromosome 15"
    }
  ]
}