{
  "id": 8506,
  "label": "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007093",
  "properties": {
    "xrefs": [
      "DOID:0110053",
      "GARD:0016932",
      "MEDGEN:350816",
      "MESH:C566293",
      "OMIM:104510",
      "Orphanet:100034",
      "UMLS:C1863012"
    ],
    "synonyms": [
      "AI4",
      "AIHHT",
      "DLX3 amelogenesis imperfecta",
      "amelogenesis imperfecta caused by mutation in DLX3",
      "amelogenesis imperfecta type 4",
      "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism",
      "amelogenesis imperfecta, type 4",
      "amelogenesis imperfecta, type IV"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0006858",
        "name": "mouth disorder"
      }
    ],
    "definition": "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the DLX3 gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19324,
      "label": "amelogenesis imperfecta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5879
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "CSP:0828-0533",
          "DOID:2187",
          "GARD:0005791",
          "ICD9:520.5",
          "MEDGEN:240",
          "MESH:D000567",
          "NORD:765",
          "OMIMPS:104500",
          "Orphanet:88661",
          "SCTID:78494001",
          "UMLS:C0002452",
          "icd11.foundation:1923123066"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "Amelogenesis imperfecta (AI) represents a group of developmental conditions affecting the structure and clinical appearance of the enamel of all or nearly all the teeth in a more or less equal manner, and which may be associated with morphologic or biochemical changes elsewhere in the body."
      },
      "child_count": 14,
      "reference_id": "MONDO:0019507"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19324,
      "label": "amelogenesis imperfecta"
    }
  ]
}