{
  "id": 26030,
  "label": "Phelan-McDermid syndrome due to 22q13.3 deletion",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971068",
  "properties": {
    "xrefs": [
      "GARD:0027168",
      "Orphanet:662169"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12744,
      "label": "Phelan-McDermid syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DECIPHER:20",
          "DOID:0080354",
          "GARD:0010130",
          "ICD9:758.39",
          "MEDGEN:339994",
          "MESH:C536801",
          "NCIT:C157124",
          "NORD:1573",
          "OMIM:606232",
          "Orphanet:48652",
          "SCTID:699310000",
          "UMLS:C1853490"
        ],
        "synonyms": [
          "PHMDS",
          "Phelan McDermid syndrome",
          "Phelan-McDermid syndrome",
          "22q13 deletion",
          "monosomy 22q13",
          "monosomy type 22q13",
          "22q13.3 deletion syndrome",
          "chromosome 22Q13.3 deletion syndrome",
          "deletion 22q13.3 syndrome",
          "telomeric 22Q13 monosomy syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A rare genetic neurodevelopmental disorder characterized by neonatal hypotonia, global developmental delay, normal to accelerated growth, absent to severely delayed speech, and minor dysmorphic features. Phelan-McDermid syndrome can be caused by a deletion at chromosome 22q13 or by mutation in the SHANK3 gene."
      },
      "child_count": 4,
      "reference_id": "MONDO:0011652"
    },
    {
      "id": 20971,
      "label": "chromosome 22q deletion",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3128
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0020841",
          "MEDGEN:539297",
          "Orphanet:262182",
          "UMLS:C0265489"
        ],
        "synonyms": [
          "22q deletion",
          "22q monosomy",
          "deletion 22q",
          "monosomy 22q",
          "partial deletion of chromosome 22q",
          "partial deletion of the long arm of chromosome 22",
          "partial deletion of the long arm of chromosome type 22",
          "partial monosomy 22q",
          "partial monosomy of chromosome 22q",
          "partial monosomy of the long arm of chromosome 22"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0022760"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12744,
      "label": "Phelan-McDermid syndrome"
    },
    {
      "id": 20971,
      "label": "chromosome 22q deletion"
    }
  ]
}