{
  "id": 9908,
  "label": "Upington disease",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008624",
  "properties": {
    "xrefs": [
      "GARD:0005421",
      "MEDGEN:348145",
      "MESH:C536472",
      "OMIM:191520",
      "Orphanet:3408",
      "SCTID:719041000",
      "UMLS:C1860596",
      "icd11.foundation:1846351406"
    ],
    "synonyms": [
      "Upington disease",
      "hip dysplasia-enchondromata-ecchondroma syndrome",
      "Perthes-like hip disease, enchondromata, and Ecchondromata",
      "familial dyschondroplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Upington disease is characterized by Perthes-like pelvic anomalies (premature closure of the capital femoral epiphyses and widened femoral necks with flattened femoral heads), enchondromata and ecchondromata. It has been described in siblings from three generations of one family. Transmission is autosomal dominant."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:17",
          "EFO:0009676",
          "ICD9:729.99",
          "MEDGEN:6471",
          "MESH:D009140",
          "NCIT:C107377",
          "SCTID:928000",
          "UMLS:C0026857"
        ],
        "synonyms": [
          "disease of musculoskeletal system",
          "disease or disorder of musculoskeletal system",
          "disorder of musculoskeletal system",
          "musculoskeletal disease",
          "musculoskeletal system disease",
          "musculoskeletal system disease or disorder",
          "musculoskeletal system disorder",
          "musculoskeletal disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the musculoskeletal system."
      },
      "child_count": 22,
      "reference_id": "MONDO:0002081"
    },
    {
      "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"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 4222,
      "label": "musculoskeletal system disorder"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    }
  ]
}