{
  "id": 14280,
  "label": "brachydactyly type E2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013244",
  "properties": {
    "xrefs": [
      "DOID:0110976",
      "GARD:0015654",
      "MEDGEN:461994",
      "OMIM:613382",
      "UMLS:C3150644"
    ],
    "synonyms": [
      "BDE2",
      "PTHLH brachydactyly type E",
      "brachydactyly type E caused by mutation in PTHLH",
      "brachydactyly type E2",
      "brachydactyly, type E2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19463,
      "label": "brachydactyly type E",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20260
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000987",
          "MEDGEN:939359",
          "Orphanet:93387",
          "UMLS:C4315392",
          "icd11.foundation:712007423"
        ],
        "synonyms": [
          "type E brachydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachydactyly type E (BDE) is a congenital malformation of the digits characterized by variable shortening of the metacarpals with more or less normal length phalanges, although the terminal phalanges are often short."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019677"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19463,
      "label": "brachydactyly type E"
    }
  ]
}