{
  "id": 26031,
  "label": "Phelan-McDermid syndrome due to SHANK3 mutation",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0971069",
  "properties": {
    "xrefs": [
      "GARD:0027169",
      "MEDGEN:1864314",
      "Orphanet:662172",
      "UMLS:C5925128"
    ],
    "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12744,
      "label": "Phelan-McDermid syndrome"
    }
  ]
}