{
  "id": 16024,
  "label": "amelogenesis imperfecta type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015048",
  "properties": {
    "xrefs": [
      "GARD:0008349",
      "ICD9:520.5",
      "MEDGEN:97994",
      "MESH:C536606",
      "Orphanet:100033",
      "SCTID:109475005",
      "UMLS:C0399372"
    ],
    "synonyms": [
      "hypomaturation amelogenesis imperfecta",
      "amelogenesis imperfecta hypomaturation type"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0006858",
        "name": "mouth disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "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": 10044,
      "label": "amelogenesis imperfecta type 2A1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110057",
          "GARD:0009495",
          "MEDGEN:436039",
          "MESH:C538242",
          "MESH:C567146",
          "OMIM:204700",
          "UMLS:C2673922"
        ],
        "synonyms": [
          "AI2A1",
          "KLK4 amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in KLK4",
          "amelogenesis imperfecta, type IIA1",
          "amelogenesis imperfecta pigmented hypomaturation type",
          "amelogenesis imperfecta, hypomaturation type, IIA1",
          "amelogenesis imperfecta, pigmented hypomaturation type, 1"
        ],
        "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 KLK4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008772"
    },
    {
      "id": 11678,
      "label": "amelogenesis imperfecta type 1E",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110058",
          "GARD:0009943",
          "MEDGEN:336847",
          "OMIM:301200",
          "UMLS:C1845053"
        ],
        "synonyms": [
          "AIH1",
          "AMELX amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in AMELX",
          "amelogenesis imperfecta, type 1E, X-linked dominant",
          "AI1E",
          "amelogenesis imperfecta X-linked 1",
          "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1",
          "amelogenesis imperfecta, X-linked 1",
          "amelogenesis imperfecta, hypomaturation type, with Snow-capped teeth",
          "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 1",
          "amelogenesis imperfecta, type 1E",
          "amelogenesis imperfecta, type IE",
          "enamel hypoplasia X-linked",
          "enamel hypoplasia, X-linked"
        ],
        "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 AMELX gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010521"
    },
    {
      "id": 13966,
      "label": "amelogenesis imperfecta hypomaturation type 2A2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110060",
          "GARD:0015563",
          "MEDGEN:436540",
          "MESH:C567279",
          "OMIM:612529",
          "UMLS:C2675858"
        ],
        "synonyms": [
          "AI2A2",
          "MMP20 amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in MMP20",
          "amelogenesis imperfecta, type IIA2",
          "amelogenesis imperfecta, hypomaturation type, IIA2",
          "amelogenesis imperfecta, pigmented hypomaturation type, 2"
        ],
        "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 MMP20 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012926"
    },
    {
      "id": 14217,
      "label": "amelogenesis imperfecta hypomaturation type 2A3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110061",
          "GARD:0015630",
          "MEDGEN:416381",
          "MESH:C567706",
          "OMIM:613211",
          "UMLS:C2750771"
        ],
        "synonyms": [
          "AI2A3",
          "WDR72 amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in WDR72",
          "amelogenesis imperfecta hypomaturation type 2A3",
          "amelogenesis imperfecta, type IIA3",
          "amelogenesis imperfecta, hypomaturation type, IIA3"
        ],
        "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 WDR72 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013181"
    },
    {
      "id": 14918,
      "label": "amelogenesis imperfecta hypomaturation type 2A4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110062",
          "GARD:0015847",
          "MEDGEN:766744",
          "OMIM:614832",
          "UMLS:C3553830"
        ],
        "synonyms": [
          "AI2A4",
          "ODAPH amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in ODAPH",
          "amelogenesis imperfecta, type IIA4",
          "amelogenesis imperfecta, hypomaturation type, IIA4"
        ],
        "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 ODAPH gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013906"
    },
    {
      "id": 15387,
      "label": "amelogenesis imperfecta hypomaturation type 2A5",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110063",
          "GARD:0016028",
          "MEDGEN:863015",
          "OMIM:615887",
          "UMLS:C4014578"
        ],
        "synonyms": [
          "AI2A5",
          "SLC24A4 amelogenesis imperfecta",
          "amelogenesis imperfecta caused by mutation in SLC24A4",
          "amelogenesis imperfecta, type IIA5",
          "amelogenesis imperfecta, hypomaturation type, IIA5"
        ],
        "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 SLC24A4 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014385"
    },
    {
      "id": 15949,
      "label": "amelogenesis imperfecta, hypomaturation type, IIa6",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16024
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080960",
          "GARD:0016211",
          "MEDGEN:934632",
          "OMIM:617217",
          "UMLS:C4310665"
        ],
        "synonyms": [
          "AI2A6",
          "amelogenesis imperfecta, hypomaturation type, IIa6",
          "amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014971"
    }
  ],
  "roots": [
    {
      "id": 19324,
      "label": "amelogenesis imperfecta"
    }
  ]
}