{
  "id": 8526,
  "label": "Angelman syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007113",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6799
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "neurogenetic disease"
        ],
        "categories": [
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A heterogeneous group of genetic conditions with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology characterized by abnormalities in the brain, spinal cord, nerves, or muscles."
      },
      "child_count": 528,
      "reference_id": "MONDO:0100545"
    }
  ],
  "children": [
    {
      "id": 18502,
      "label": "Angelman syndrome due to a point mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8526
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021732",
          "MEDGEN:1842258",
          "Orphanet:411511",
          "UMLS:C5681146"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018461"
    },
    {
      "id": 18503,
      "label": "Angelman syndrome due to imprinting defect in 15q11-q13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8526
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021733",
          "MEDGEN:1826135",
          "Orphanet:411515",
          "UMLS:C5681834"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018462"
    },
    {
      "id": 19783,
      "label": "Angelman syndrome due to maternal 15q11q13 deletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8526,
        17332
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020302"
    },
    {
      "id": 19784,
      "label": "Angelman syndrome due to paternal uniparental disomy of chromosome 15",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8526,
        24420,
        24482
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019578",
          "MEDGEN:1826078",
          "Orphanet:98795",
          "UMLS:C5680342"
        ],
        "synonyms": [
          "Angelman syndrome due to paternal uniparental disomy of chromosome type 15",
          "UPD(15)pat"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020303"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 24270,
      "label": "hereditary neurological disease"
    }
  ]
}