{
  "id": 12601,
  "label": "wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0011501",
  "properties": {
    "xrefs": [
      "GARD:0010290",
      "MEDGEN:387969",
      "MESH:C565734",
      "OMIM:604922",
      "Orphanet:166277",
      "UMLS:C1858032"
    ],
    "synonyms": [
      "Suarez-Stickler syndrome",
      "cortical defects wormian bones and dentinogenesis imperfecta",
      "cortical defects, WORMIAN bones, and dentinogenesis imperfecta"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Skeletal dysplasia with wormian bone-multiple fractures-dentinogenesis imperfecta is a skeletal disorder, reported in three patients to date, characterized clinically by multiple fractures, wormian bones of the skull, dentinogenesis imperfecta and facial dysmorphism (hypertelorism, periorbital fullness). Although the signs are very similar to osteogenesis imperfecta, characteristic cortical defects in the absence of osteopenia and collagen abnormalities are considered to be distinctive. There have been no further descriptions in the literature since 1999."
  },
  "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"
    }
  ]
}