{
  "id": 10989,
  "label": "autosomal recessive omodysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0009779",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "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": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17496,
      "label": "omodysplasia"
    }
  ]
}