{
  "id": 20766,
  "label": "Aloi Tomasini Isaia syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0021845",
  "properties": {
    "xrefs": [
      "GARD:0000417",
      "MEDGEN:419073",
      "MESH:C537049",
      "UMLS:C2931405"
    ],
    "synonyms": [
      "basal cell nevus anodontia abnormal bone mineralization",
      "basal cell nevus, anodontia, abnormal bone mineralization",
      "unilateral linear basal cell nevus associated with diffuse osteoma cutis, unilateral anodontia, and abnormal bone mineralization"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0006858",
        "name": "mouth disorder"
      }
    ],
    "definition": "A syndrome characterized by a unilateral linear basal cell nevus, diffuse osteoma cutis, unilateral anodontia (missing teeth), and abnormal bone mineralization. This is an n-of-1 use case where only one patient or family has been described with this disorder."
  },
  "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": 10068,
      "label": "anodontia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        8422
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13714",
          "GARD:0005818",
          "ICD9:520.0",
          "MEDGEN:98313",
          "MESH:D000848",
          "MedDRA:10002583",
          "OMIM:206780",
          "Orphanet:99797",
          "SCTID:16958000",
          "UMLS:C0399352",
          "icd11.foundation:413433873"
        ],
        "synonyms": [
          "complete absence of teeth",
          "developmental absence of tooth",
          "total anodontia of permanent and deciduous teeth",
          "absence of permanent teeth",
          "anodontia of permanent dentition",
          "teeth, permanent, absence of"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "Anodontia is an extreme developmental dental anomaly characterized by the complete absence of all teeth."
      },
      "child_count": 6,
      "reference_id": "MONDO:0008797"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 10068,
      "label": "anodontia"
    }
  ]
}