{
  "id": 8637,
  "label": "autosomal dominant brachyolmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007232",
  "properties": {
    "xrefs": [
      "GARD:0010429",
      "MEDGEN:96583",
      "OMIM:113500",
      "Orphanet:93304",
      "SCTID:717264003",
      "UMLS:C0432227"
    ],
    "synonyms": [
      "brachyolmia type 3",
      "brachyolmia, autosomal dominant",
      "BCYM3",
      "brachyolmia autosomal dominant",
      "brachyrachia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal dominant brachyolmia is a relatively severe form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature, platyspondyly and kyphoscoliosis. Degenerative joint disease (osteoarthropathy) in the spine, large joints and interphalangeal joints becomes manifest in adulthood."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "id": 16146,
      "label": "brachyolmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050690",
          "GARD:0010903",
          "ICD9:756.19",
          "MEDGEN:96584",
          "MESH:C537098",
          "Orphanet:1293",
          "SCTID:254088006",
          "UMLS:C0432228",
          "icd11.foundation:1255949169"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015262"
    },
    {
      "id": 18364,
      "label": "TRPV4-related bone disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021577",
          "MEDGEN:1842686",
          "NANDO:2201021",
          "Orphanet:364820",
          "UMLS:C5680977"
        ],
        "synonyms": [
          "TRPV4-related skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 6,
      "reference_id": "MONDO:0018240"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 16146,
      "label": "brachyolmia"
    },
    {
      "id": 18364,
      "label": "TRPV4-related bone disorder"
    }
  ]
}