{
  "id": 18215,
  "label": "tibial aplasia-ectrodactyly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018050",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 8727,
      "label": "split-hand/foot malformation with long bone deficiency 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18215
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007332"
    },
    {
      "id": 13585,
      "label": "split-hand/foot malformation with long bone deficiency 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18215
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015492",
          "MEDGEN:377841",
          "MESH:C565199",
          "OMIM:610685",
          "UMLS:C1853156"
        ],
        "synonyms": [
          "SHFLD2",
          "split-hand/foot malformation with long bone deficiency 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012537"
    },
    {
      "id": 13984,
      "label": "chromosome 17P13.3, telomeric, duplication syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18215,
        19479
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015572",
          "MEDGEN:390813",
          "MESH:C567245",
          "OMIM:612576",
          "UMLS:C2675492"
        ],
        "synonyms": [
          "chromosome 17P13.3, telomeric, duplication syndrome",
          "split-hand/foot malformation with long bone deficiency 3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012944"
    }
  ],
  "roots": [
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18362,
      "label": "dysostosis"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}