{
  "id": 10165,
  "label": "Tel Hashomer camptodactyly syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008901",
  "properties": {
    "xrefs": [
      "GARD:0005128",
      "MEDGEN:347860",
      "MESH:C536953",
      "OMIM:211960",
      "Orphanet:3292",
      "SCTID:719946008",
      "UMLS:C1859356"
    ],
    "synonyms": [
      "Tel Hashomer camptodactyly syndrome",
      "camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Tel Hashomer camptodactyly syndrome is a rare syndrome characterized by camptodactyly, muscle hypoplasia and weakness, skeletal anomalies, facial dysmorphism and abnormal dermatoglyphics."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 19743,
      "label": "skeletal muscle disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5798
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:735900",
          "MedDRA:10028641",
          "Orphanet:98472",
          "SCTID:75047002",
          "UMLS:C1533847"
        ],
        "synonyms": [
          "disease of skeletal muscle tissue",
          "disease or disorder of skeletal muscle tissue",
          "disorder of skeletal muscle tissue",
          "skeletal muscle tissue disease",
          "skeletal muscle tissue disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease involving the skeletal muscle tissue."
      },
      "child_count": 13,
      "reference_id": "MONDO:0020120"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 19743,
      "label": "skeletal muscle disorder"
    }
  ]
}