{
  "id": 18654,
  "label": "autosomal recessive brachyolmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018662",
  "properties": {
    "xrefs": [
      "GARD:0013171",
      "MEDGEN:1675807",
      "Orphanet:448242",
      "UMLS:C4760908",
      "icd11.foundation:625421044"
    ],
    "synonyms": [
      "brachyolmia, Hobaek/Toledo type",
      "brachyolmia, autosomal recessive"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Brachyolmia, recessive type is a form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short-trunked short stature with platyspondyly and scoliosis. Corneal opacities and precocious calcification of the costal cartilage are rare syndromic components. Premature pubarche may occur."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "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": 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"
    }
  ],
  "children": [
    {
      "id": 11259,
      "label": "brachyolmia type 1, Hobaek type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18654
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000995",
          "MEDGEN:338605",
          "MESH:C537099",
          "OMIM:271530",
          "Orphanet:93301",
          "UMLS:C1849055",
          "icd11.foundation:1213374086"
        ],
        "synonyms": [
          "BCYM1A",
          "brachyolmia type 1, Hobaek type",
          "brachyolmia, recessive type of Hobaek",
          "spondylodysplasia with Pure brachyolmia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010070"
    },
    {
      "id": 11262,
      "label": "brachyolmia type 1, toledo type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18654
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004977",
          "MEDGEN:376504",
          "MESH:C535787",
          "OMIM:271630",
          "Orphanet:93303",
          "UMLS:C1849048",
          "icd11.foundation:637954533"
        ],
        "synonyms": [
          "BCYM1B",
          "PAPS-chondroitin sulfate sulfotransferase deficiency",
          "PAPS-chondroitin sulphate sulfotransferase deficiency",
          "Sed, chondroitin sulfate type",
          "Sed, chondroitin sulphate type",
          "brachyolmia type 1, Toledo type",
          "spondyloepiphyseal dysplasia tarda, Toledo type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0010074"
    }
  ],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 16146,
      "label": "brachyolmia"
    }
  ]
}