{
  "id": 8620,
  "label": "brachydactyly type A1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007215",
  "properties": {
    "xrefs": [
      "DOID:0110964",
      "GARD:0000978",
      "MEDGEN:354673",
      "MESH:C537088",
      "OMIM:112500",
      "Orphanet:93388",
      "SCTID:715720006",
      "UMLS:C1862151",
      "icd11.foundation:568452529"
    ],
    "synonyms": [
      "BDA1",
      "brachydactyly, Farabee type",
      "Farabee-type brachydactyly",
      "brachydactyly Farabee type",
      "brachydactyly, type A1"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "A rare, congenital limb malformation characterized by shortened or underdeveloped middle phalanges of all digits, that are sometimes fused with the terminal phalanges. The proximal phalanges of the thumbs and big toes are also shortened. Short stature in adulthood has been reported in association."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "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"
    },
    {
      "id": 26116,
      "label": "short stature with nonspecific skeletal abnormalities",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:906874",
          "OMIMPS:616255",
          "UMLS:C4225399"
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0975810"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 20260,
      "label": "brachydactyly"
    },
    {
      "id": 26116,
      "label": "short stature with nonspecific skeletal abnormalities"
    }
  ]
}