{
  "id": 19186,
  "label": "Sotos syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019349",
  "properties": {
    "xrefs": [
      "DECIPHER:17",
      "DOID:0112103",
      "DOID:14748",
      "GARD:0010091",
      "MEDGEN:61232",
      "MESH:D058495",
      "MedDRA:10064387",
      "NANDO:1200679",
      "NANDO:2200953",
      "NCIT:C75019",
      "NORD:1727",
      "OMIM:117550",
      "OMIMPS:117550",
      "Orphanet:821",
      "SCTID:75968004",
      "UMLS:C0175695",
      "icd11.foundation:1887392960"
    ],
    "synonyms": [
      "NSD1 Sotos syndrome",
      "Sotos syndrome",
      "Sotos syndrome 1",
      "Sotos syndrome caused by mutation in NSD1",
      "Sotos syndrome type 1",
      "Sotos' syndrome",
      "cerebral gigantism",
      "cerebral gigantism syndrome",
      "chromosome 5q35 deletion syndrome",
      "SOTOS1",
      "distinctive facial appearance, overgrowth in childhood, and learning disabilities or delayed development"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Sotos syndrome is a rare multisystemic genetic disorder characterized by a typical facial appearance, overgrowth of the body in early life with macrocephaly, and mild to severe intellectual disability."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025062",
          "Orphanet:102284"
        ],
        "synonyms": [
          "MCA/variable MR",
          "multiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome"
        ]
      },
      "child_count": 69,
      "reference_id": "MONDO:0015160"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17295
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:262038",
          "icd11.foundation:285885131"
        ],
        "synonyms": [
          "partial deletion of chromosome 5q",
          "partial deletion of the long arm of chromosome type 5",
          "partial monosomy of chromosome 5q",
          "partial monosomy of the long arm of chromosome 5"
        ]
      },
      "child_count": 8,
      "reference_id": "MONDO:0016904"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 17323,
      "label": "partial deletion of the long arm of chromosome 5"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}