{
  "id": 9436,
  "label": "autosomal dominant omodysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008123",
  "properties": {
    "xrefs": [
      "DOID:0080845",
      "GARD:0003643",
      "MEDGEN:413823",
      "MESH:C567664",
      "OMIM:164745",
      "Orphanet:93328",
      "SCTID:725165009",
      "UMLS:C2750355",
      "icd11.foundation:1237796148"
    ],
    "synonyms": [
      "omodysplasia, autosomal dominant",
      "OMOD2",
      "omodysplasia 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Autosomal dominant form of omodysplasia."
  },
  "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": 17496,
      "label": "omodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060288",
          "GARD:0016608",
          "MEDGEN:1388973",
          "OMIMPS:258315",
          "Orphanet:2733",
          "SCTID:725164008",
          "UMLS:C4510897",
          "icd11.foundation:1081897527"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Omodysplasia is a rare skeletal dysplasia characterized by severe limb shortening and facial dysmorphism. Two types of omodysplasia have been described: an autosomal recessive or generalized form (also referred to as micromelic dysplasia with dislocation of radius) marked by severe micromelic dwarfism with predominantly rhizomelic shortening of both the upper and lower limbs, and an autosomal dominant form in which stature is normal and shortening is limited to the upper limbs."
      },
      "child_count": 2,
      "reference_id": "MONDO:0017136"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 17496,
      "label": "omodysplasia"
    }
  ]
}