{
  "id": 12744,
  "label": "Phelan-McDermid syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011652",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    }
  ],
  "children": [
    {
      "id": 26030,
      "label": "Phelan-McDermid syndrome due to 22q13.3 deletion",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12744,
        20971
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027168",
          "Orphanet:662169"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971068"
    },
    {
      "id": 26031,
      "label": "Phelan-McDermid syndrome due to SHANK3 mutation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        12744
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027169",
          "MEDGEN:1864314",
          "Orphanet:662172",
          "UMLS:C5925128"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971069"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}