{
  "id": 8727,
  "label": "split-hand/foot malformation with long bone deficiency 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007332",
  "properties": {
    "xrefs": [
      "GARD:0015050",
      "MEDGEN:349310",
      "MESH:C536425",
      "OMIM:119100",
      "UMLS:C1861553"
    ],
    "synonyms": [
      "SHFLD1",
      "split-hand/foot malformation with long bone deficiency 1",
      "SHFLD",
      "aplasia of tibia with ectrodactyly",
      "cleft hand absent tibia",
      "cleft hand and absent tibia",
      "ectrodactyly with aplasia of long bones",
      "split-hand-foot malformation with long bone deficiency",
      "split-hand/foot malformation with long bone deficiency",
      "tibial aplasia with split-hand-split-foot deformity",
      "tibial aplasia with split-hand/split-foot deformity"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18215,
      "label": "tibial aplasia-ectrodactyly syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        18362,
        18956
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001369",
          "MEDGEN:1639878",
          "Orphanet:3329",
          "UMLS:C4551989"
        ],
        "synonyms": [
          "SHFLD syndrome",
          "SHFM associated with aplasia of long bones",
          "TH-SHFM",
          "aplasia of tibia with split-hand/split-foot deformity",
          "split hand/foot malformation with long bone deficiency",
          "split-hand/foot malformation associated with aplasia of long bones",
          "tibial hemimelia with split hand/foot malformation",
          "tibial hemimelia-ectrodactyly syndrome",
          "SHFLD",
          "aplasia of tibia with ectrodactyly",
          "ectrodactyly with aplasia of long bones",
          "split-hand/foot malformation with long bone deficiency",
          "tibial aplasia with split-hand/split-foot deformity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tibial aplasia-ectrodactyly syndrome is a rare condition characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia."
      },
      "child_count": 9,
      "reference_id": "MONDO:0018050"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18215,
      "label": "tibial aplasia-ectrodactyly syndrome"
    }
  ]
}