{
  "id": 17496,
  "label": "omodysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017136",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 18360,
      "label": "skeletal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7061
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:98053",
          "Orphanet:364526",
          "UMLS:C0410528"
        ],
        "synonyms": [
          "Mendelian skeletal dysplasia",
          "primary bone dysplasia",
          "primary osteodysplasia",
          "primary skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any Mendelian diseases that affects growth and development of the skeleton."
      },
      "child_count": 238,
      "reference_id": "MONDO:0018230"
    }
  ],
  "children": [
    {
      "id": 9436,
      "label": "autosomal dominant omodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        17496
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008123"
    },
    {
      "id": 10989,
      "label": "autosomal recessive omodysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17496
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080844",
          "GARD:0004076",
          "MEDGEN:340513",
          "OMIM:258315",
          "Orphanet:93329",
          "SCTID:725166005",
          "UMLS:C1850318",
          "icd11.foundation:350802889"
        ],
        "synonyms": [
          "autosomal recessive omodysplasia",
          "micromelic dysplasia-dislocation of radius syndrome",
          "omodysplasia type 1",
          "omodysplasia, autosomal recessive",
          "OMOD1",
          "micromelic dysplasia congenita with dislocation of radius",
          "micromelic dysplasia, congenital, with dislocation of radius",
          "omodysplasia 1",
          "omodysplasia autosomal recessive",
          "omodysplasia generalised form",
          "omodysplasia generalized form",
          "omodysplasia, generalised form",
          "omodysplasia, generalized form"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive form of omodysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009779"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}