{
  "id": 19463,
  "label": "brachydactyly type E",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019677",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 20260,
      "label": "brachydactyly",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6893,
        20383
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050581",
          "HP:0001156",
          "MEDGEN:67454",
          "MESH:D059327",
          "SCTID:43476002",
          "UMLS:C0221357",
          "icd11.foundation:598200019"
        ],
        "synonyms": [
          "brachydactyly",
          "brachydactyly (disease)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms."
      },
      "child_count": 66,
      "reference_id": "MONDO:0021004"
    }
  ],
  "children": [
    {
      "id": 8628,
      "label": "brachydactyly type E1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0110972",
          "GARD:0024533",
          "MEDGEN:396291",
          "MESH:C566194",
          "OMIM:113300",
          "UMLS:C1862102"
        ],
        "synonyms": [
          "BDE1",
          "HOXD13 brachydactyly type E",
          "brachydactyly type E caused by mutation in HOXD13",
          "brachydactyly, type E",
          "brachydactyly, type E1"
        ],
        "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 HOXD13 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007223"
    },
    {
      "id": 8629,
      "label": "brachydactyly, type E, with atrial septal defect, type 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19463
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0024534",
          "MEDGEN:354662",
          "MESH:C566193",
          "OMIM:113301",
          "UMLS:C1862101"
        ],
        "synonyms": [
          "brachydactyly, type E, with atrial septal defect, type II"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007224"
    },
    {
      "id": 14280,
      "label": "brachydactyly type E2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19463
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013244"
    }
  ],
  "roots": [
    {
      "id": 20260,
      "label": "brachydactyly"
    }
  ]
}