{
  "id": 19324,
  "label": "amelogenesis imperfecta",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019507",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 7,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 5879,
      "label": "dental enamel hypoplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4339
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:693",
          "EFO:1001304",
          "MEDGEN:3730",
          "MESH:D003744",
          "NCIT:C34529",
          "SCTID:26597004",
          "UMLS:C0011351"
        ],
        "synonyms": [
          "enamel hypoplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "Deficiency in the enamel tissue that results in the formation of grooves, pits, or dents on the surface of the affected teeth."
      },
      "child_count": 1,
      "reference_id": "MONDO:0004038"
    }
  ],
  "children": [
    {
      "id": 8506,
      "label": "hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19324
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007093"
    },
    {
      "id": 10043,
      "label": "amelogenesis imperfecta type 1G",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19324,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110066",
          "GARD:0000646",
          "ICD9:520.5",
          "MEDGEN:419162",
          "MESH:C538241",
          "OMIM:204690",
          "OMIM:614253",
          "Orphanet:1031",
          "Orphanet:171836",
          "SCTID:109477002",
          "UMLS:C2931783"
        ],
        "synonyms": [
          "AI1G",
          "AIGFS",
          "ERS",
          "FAM20A amelogenesis imperfecta",
          "amelogenesis imperfecta and gingival fibromatosis syndrome",
          "amelogenesis imperfecta caused by mutation in FAM20A",
          "amelogenesis imperfecta, type IG (enamel-renal syndrome)",
          "amelogenesis imperfecta-gingival hyperplasia syndrome",
          "enamel-renal syndrome",
          "enamel-renal-gingival syndrome",
          "ers",
          "absent enamel, nephrocalcinosis and apparently normal calcium metabolism",
          "amelogenesis imperfecta and nephrocalcinosis",
          "amelogenesis imperfecta hypoplastic type, IG",
          "amelogenesis imperfecta nephrocalcinosis",
          "amelogenesis imperfecta, hypoplastic, with nephrocalcinosis",
          "amelogenesis imperfecta, type IG",
          "amelogenesis imperfecta-nephrocalcinosis syndrome",
          "enamel renal syndrome",
          "generalised enamel hypoplasia and renal dysfunction",
          "generalized enamel hypoplasia and renal dysfunction"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "An extremely rare syndrome which is characterized by hypoplastic amelogenesis imperfecta (hypoplastic dental enamel) and nephrocalcinosis (precipitation of calcium salts in renal tissue). Oral manifestations include yellow and misshaped teeth, delayed tooth eruption, and intrapulpal calcifications. Nephrocalcinosis is often asymptomatic but can progress during late childhood or early adulthood to impaired renal function (e.g. recurrent urinary infections and renal tubular acidosis), and rarely to end-stage renal failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008771"
    },
    {
      "id": 11679,
      "label": "X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110059",
          "GARD:0009944",
          "MEDGEN:336845",
          "OMIM:301201",
          "UMLS:C1845051"
        ],
        "synonyms": [
          "X-linked amelogenesis imperfecta hypoplastic/hypomaturation type 2",
          "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked type 2",
          "amelogenesis imperfecta, type IE, X-linked 2",
          "AIH3 (formerly)",
          "amelogenesis imperfecta 3, hypoplastic type",
          "amelogenesis imperfecta 3, hypoplastic type (formerly)",
          "amelogenesis imperfecta 3, hypoplastic type, formerly",
          "amelogenesis imperfecta, hypoplastic/hypomaturation, X-linked 2",
          "enamel hypoplasia, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ],
        "definition": "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010522"
    },
    {
      "id": 16023,
      "label": "amelogenesis imperfecta type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19324
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0015047"
    },
    {
      "id": 16024,
      "label": "amelogenesis imperfecta type 2",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19324
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 7,
      "reference_id": "MONDO:0015048"
    },
    {
      "id": 22221,
      "label": "amelogenesis imperfecta, IIa 1K",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060945",
          "GARD:0025693",
          "MEDGEN:1824019",
          "OMIM:620104",
          "UMLS:C5774246"
        ],
        "synonyms": [
          "AI1K",
          "amelogenesis imperfecta, IIa 1K",
          "amelogenesis imperfecta, hypoplastic IIa 1K"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0031084"
    },
    {
      "id": 25961,
      "label": "hypocalcified amelogenesis imperfecta",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016931",
          "MEDGEN:140773",
          "Orphanet:100032",
          "UMLS:C0399376",
          "icd11.foundation:1793262466"
        ],
        "synonyms": [
          "amelogenesis imperfecta type 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0006858",
            "name": "mouth disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0968955"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 5879,
      "label": "dental enamel hypoplasia"
    }
  ]
}