{
  "id": 18231,
  "label": "trisomy 13",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018068",
  "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."
  },
  "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": 19767,
      "label": "congenital vitreoretinal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4427,
        19766
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025155",
          "ICD9:743.56",
          "MEDGEN:757909",
          "Orphanet:98669",
          "SCTID:449866003",
          "UMLS:C3266134",
          "icd11.foundation:44221751"
        ],
        "synonyms": [
          "vitreoretinal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0020247"
    },
    {
      "id": 24418,
      "label": "chromosome 13 disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19716
      ],
      "type_id": 0,
      "properties": {
        "definition": "Chromosomal disorder in which chromosome 13 is affected."
      },
      "child_count": 6,
      "reference_id": "MONDO:0700020"
    },
    {
      "id": 24461,
      "label": "trisomy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24460
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:21702",
          "MESH:D014314",
          "NCIT:C3421",
          "UMLS:C0041107"
        ],
        "synonyms": [
          "chromosomal triplication"
        ],
        "definition": "A chromosomal abnormality consisting of the presence of one chromosome in addition to the normal diploid number."
      },
      "child_count": 23,
      "reference_id": "MONDO:0700065"
    }
  ],
  "children": [
    {
      "id": 24431,
      "label": "complete trisomy 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18231
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026330"
        ],
        "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 in all the cells of the organism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700033"
    },
    {
      "id": 24432,
      "label": "mosaic trisomy 13",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18231
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0700034"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 19767,
      "label": "congenital vitreoretinal dysplasia"
    },
    {
      "id": 24418,
      "label": "chromosome 13 disorder"
    },
    {
      "id": 24461,
      "label": "trisomy"
    }
  ]
}