{
  "id": 16023,
  "label": "amelogenesis imperfecta type 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015047",
  "properties": {
    "xrefs": [
      "GARD:0000645",
      "ICD9:520.5",
      "MEDGEN:97992",
      "Orphanet:100031",
      "SCTID:109476006",
      "UMLS:C0399367"
    ],
    "synonyms": [
      "hypoplastic amelogenesis imperfecta"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0006858",
        "name": "mouth disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "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": [
    {
      "id": 8505,
      "label": "amelogenesis imperfecta type 1B",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110052",
          "GARD:0015037",
          "ICD9:520.5",
          "MEDGEN:97993",
          "MESH:C562879",
          "OMIM:104500",
          "SCTID:234961008",
          "UMLS:C0399368"
        ],
        "synonyms": [
          "AI1B",
          "ENAM amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in ENAM",
          "amelogenesis imperfecta caused by mutation in enam",
          "enam amelogenesis imperfecta",
          "hereditary localised enamel hypoplasia",
          "AIH2",
          "amelogenesis imperfecta, hypoplastic local, autosomal dominant",
          "amelogenesis imperfecta, type 1B",
          "amelogenesis imperfecta, type IB",
          "enamel hypoplasia, hereditary localised",
          "enamel hypoplasia, hereditary localized"
        ],
        "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 ENAM gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007092"
    },
    {
      "id": 8507,
      "label": "amelogenesis imperfecta type 1A",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110054",
          "GARD:0015038",
          "MEDGEN:859840",
          "MESH:C538240",
          "OMIM:104530",
          "UMLS:C4011403"
        ],
        "synonyms": [
          "AI1A",
          "LAMB3 amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in LAMB3",
          "amelogenesis imperfecta local hypoplastic",
          "amelogenesis imperfecta, hypoplastic type 1A",
          "amelogenesis imperfecta, type 1A",
          "amelogenesis imperfecta, type IA",
          "local hypoplastic amelogenesis imperfecta"
        ],
        "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 LAMB3 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007094"
    },
    {
      "id": 10042,
      "label": "amelogenesis imperfecta type 1C",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110056",
          "GARD:0015136",
          "MEDGEN:388763",
          "MESH:C567147",
          "OMIM:204650",
          "UMLS:C2673923"
        ],
        "synonyms": [
          "AI1C",
          "amelogenesis imperfecta, type 1C",
          "amelogenesis imperfecta, hypoplastic, with or without Openbite malocclusion, autosomal recessive",
          "amelogenesis imperfecta, local hypoplastic type, autosomal recessive",
          "amelogenesis imperfecta, type IC"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008770"
    },
    {
      "id": 15539,
      "label": "amelogenesis imperfecta type 1H",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110064",
          "GARD:0016071",
          "MEDGEN:863994",
          "OMIM:616221",
          "UMLS:C4015557"
        ],
        "synonyms": [
          "AI1H",
          "ITGB6 amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in ITGB6",
          "amelogenesis imperfecta, type 1H",
          "amelogenesis imperfecta, type IH"
        ],
        "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 ITGB6 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014540"
    },
    {
      "id": 15558,
      "label": "amelogenesis imperfecta type 1F",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110065",
          "GARD:0016076",
          "MEDGEN:898597",
          "OMIM:616270",
          "UMLS:C4225394"
        ],
        "synonyms": [
          "AI1F",
          "AMBN amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in AMBN",
          "amelogenesis imperfecta, hypoplastic type 1F",
          "amelogenesis imperfecta, type 1F",
          "amelogenesis imperfecta, type IF"
        ],
        "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 AMBN gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014560"
    },
    {
      "id": 15984,
      "label": "amelogenesis imperfecta, type 1J",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16023
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080953",
          "EFO:0009302",
          "GARD:0016220",
          "MEDGEN:934597",
          "OMIM:617297",
          "UMLS:C4310630"
        ],
        "synonyms": [
          "amelogenesis imperfecta, type 1J",
          "AI1J"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0015008"
    }
  ],
  "roots": [
    {
      "id": 19324,
      "label": "amelogenesis imperfecta"
    }
  ]
}