{
  "id": 12148,
  "label": "Potocki-Shaffer syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011022",
  "properties": {
    "xrefs": [
      "DECIPHER:34",
      "DOID:0111687",
      "GARD:0009762",
      "ICD9:758.39",
      "MEDGEN:318657",
      "MESH:C538356",
      "NCIT:C75456",
      "OMIM:601224",
      "Orphanet:52022",
      "SCTID:702346005",
      "UMLS:C1832588",
      "icd11.foundation:1587521558"
    ],
    "synonyms": [
      "11p11.2 deletion",
      "Potocki-Shaffer syndrome",
      "proximal 11p deletion syndrome",
      "Defect11 syndrome",
      "PSS",
      "chromosome 11P11.2 deletion syndrome",
      "deletion of chromosome 11p11.2",
      "proximal 11P deletion syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Potocki-Shaffer syndrome is characterized by multiple exostoses, parietal foramina, enlargement of the anterior fontanelle and occasionally intellectual deficit and mild cranio-facial anomalies. To date, 23 individuals from 14 families have been reported. The syndrome is caused by contiguous gene deletions on the short arm of chromosome 11 (11p11.2)."
  },
  "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": 17316,
      "label": "partial deletion of the short arm of chromosome 11",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17301
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:419498",
          "Orphanet:261947",
          "UMLS:C2931801",
          "icd11.foundation:127054483"
        ],
        "synonyms": [
          "partial deletion of chromosome 11p",
          "partial deletion of the short arm of chromosome type 11",
          "partial monosomy of chromosome 11p",
          "partial monosomy of the short arm of chromosome 11"
        ]
      },
      "child_count": 5,
      "reference_id": "MONDO:0016893"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16088,
      "label": "multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome"
    },
    {
      "id": 17316,
      "label": "partial deletion of the short arm of chromosome 11"
    }
  ]
}