{
  "id": 10043,
  "label": "amelogenesis imperfecta type 1G",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008771",
  "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."
  },
  "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"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29380
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "ICD10CM:Q00-Q99",
          "MEDGEN:1843482",
          "UMLS:C0694457"
        ],
        "definition": "Any disease or disorder that disrupts the process development of an anatomical structure. Can be due to genetic or environmental causes. Typically happens during embryogenesis, but also includes post-embryonic development."
      },
      "child_count": 190,
      "reference_id": "MONDO:0021147"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19324,
      "label": "amelogenesis imperfecta"
    },
    {
      "id": 20383,
      "label": "disorder of development or morphogenesis"
    }
  ]
}