{
  "id": 8505,
  "label": "amelogenesis imperfecta type 1B",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007092",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16023,
      "label": "amelogenesis imperfecta type 1"
    }
  ]
}