{
  "id": 24432,
  "label": "mosaic trisomy 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0700034",
  "properties": {
    "xrefs": [
      "GARD:0010869"
    ],
    "synonyms": [
      "trisomy 13 mosaicism"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0005071",
        "name": "nervous system disorder"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Trisomy 13 in which the presence of an extra copy of chromosome 13 is present only in some of the cells of the organism."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18231,
      "label": "trisomy 13",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        19767,
        24418,
        24461
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11665",
          "GARD:0007341",
          "ICD9:758.1",
          "MEDGEN:56261",
          "MESH:C536305",
          "MedDRA:10044686",
          "NANDO:2200964",
          "NCIT:C101223",
          "NCIT:C36529",
          "NORD:1796",
          "Orphanet:3378",
          "SCTID:21111006",
          "UMLS:C0152095",
          "icd11.foundation:1435958084"
        ],
        "synonyms": [
          "Patau syndrome",
          "Patau's syndrome",
          "Trisomy 13 Syndrome",
          "trisomy 13",
          "trisomy type 13",
          "D trisomy syndrome (formerly)",
          "D1 trisomy",
          "chromosome 13, trisomy 13 complete"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Trisomy 13 is a chromosomal anomaly caused by the presence of an extra chromosome 13 and is characterized by brain malformations (holoprosencephaly), facial dysmorphism, ocular anomalies, postaxial polydactyly, visceral malformations (cardiopathy) and severe psychomotor retardation."
      },
      "child_count": 8,
      "reference_id": "MONDO:0018068"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18231,
      "label": "trisomy 13"
    }
  ]
}