{
  "id": 12268,
  "label": "tetrasomy 12p",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011146",
  "properties": {
    "xrefs": [
      "GARD:0008421",
      "ICD9:758.81",
      "MEDGEN:120540",
      "MESH:C538105",
      "NCIT:C75458",
      "NORD:1546",
      "OMIM:601803",
      "Orphanet:884",
      "SCTID:9527009",
      "UMLS:C0265449"
    ],
    "synonyms": [
      "Isochromosome 12p mosaicism",
      "Isochromosome 12p syndrome",
      "Pallister Killian Mosaic Syndrome",
      "Pallister-Killian syndrome",
      "Pallister-Killian syndrome, Somatic mosaicism",
      "tetrasomy type 12p",
      "Hexasomy 12P, Mosaic",
      "Isochromosome 12P syndrome",
      "Killian Teschler-Nicola syndrome",
      "Killian syndrome",
      "PKS",
      "Pallister Killian syndrome",
      "Pallister mosaic syndrome",
      "Pallister-Killian mosaic syndrome",
      "Teschler-Nicola Killian syndrome",
      "chromosome 12, Isochromosome 12p syndrome",
      "tetrasomy 12P, Mosaic"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Pallister-Killian syndrome (PKS) is a rare multiple congenital anomaly/intellectual deficit syndrome caused by mosaic tissue-limited tetrasomy for chromosome 12p."
  },
  "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": 17349,
      "label": "partial trisomy/tetrasomy of the short arm of chromosome 12",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        23094
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:1826045",
          "Orphanet:262658",
          "UMLS:C5679724"
        ],
        "synonyms": [
          "partial duplication/triplication of chromosome 12p",
          "partial duplication/triplication of the short arm of chromosome 12",
          "partial trisomy/tetrasomy of chromosome 12p",
          "partial trisomy/tetrasomy of the short arm of chromosome type 12"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0016933"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019213",
          "MEDGEN:458929",
          "NCIT:C94828",
          "Orphanet:93460",
          "UMLS:C2986703",
          "icd11.foundation:2113355045"
        ],
        "definition": "A group of syndromes caused by genetic birth defects that may lead to the development of malignancies. It is characterized by a large body size or large body parts at birth, or excessive body growth early in childhood. Representative examples include neurofibromatosis, Beckwith-Wiedemann syndrome, and Sturge-Weber syndrome."
      },
      "child_count": 31,
      "reference_id": "MONDO:0019716"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 17349,
      "label": "partial trisomy/tetrasomy of the short arm of chromosome 12"
    },
    {
      "id": 19480,
      "label": "overgrowth syndrome"
    }
  ]
}