{
  "id": 16146,
  "label": "brachyolmia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0015262",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153,
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2256",
          "EFO:0005571",
          "ICD9:756.4",
          "MEDGEN:10495",
          "MESH:D010009",
          "NCIT:C84978",
          "SCTID:105985007",
          "UMLS:C0029422"
        ],
        "synonyms": [
          "skeletal dysplasia",
          "congenital skeletal dysplasia",
          "osteochondrodysplasia",
          "cartilage development disorder",
          "congenital anomaly of cartilage"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A term referring to disorders characterized by abnormalities in the development of bones and cartilage."
      },
      "child_count": 100,
      "reference_id": "MONDO:0005516"
    },
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019193",
          "MEDGEN:1843363",
          "Orphanet:93434",
          "UMLS:C4736216",
          "icd11.foundation:329165933"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 9,
      "reference_id": "MONDO:0019694"
    }
  ],
  "children": [
    {
      "id": 8637,
      "label": "autosomal dominant brachyolmia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        16146,
        18364
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007232"
    },
    {
      "id": 14393,
      "label": "brachyolmia, Maroteaux type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16146
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016816",
          "MEDGEN:1777254",
          "OMIM:613678",
          "Orphanet:93302",
          "SCTID:389165004",
          "UMLS:C5399913"
        ],
        "synonyms": [
          "brachyolmia type 2",
          "brachyolmia, Maroteaux type",
          "BCYM2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Autosomal recessive brachyolmia, Maroteaux type is a relatively mild form of brachyolmia, a group of rare genetic skeletal disorders, characterized by short trunk/short stature, generalized platyspondyly and rounding of vertebral bodies. It remains unknown whether the phenotype represents a single disease entity or a heterogeneous group of mild skeletal dysplasias."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013360"
    },
    {
      "id": 18654,
      "label": "autosomal recessive brachyolmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7611,
        16146
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0018662"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    },
    {
      "id": 19472,
      "label": "spondylodysplastic dysplasia"
    }
  ]
}