{
  "id": 24324,
  "label": "COL2A1-related spondyloepiphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100602",
  "properties": {
    "xrefs": [
      "GARD:0027287"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Any spondyloepiphyseal dysplasia in which the cause of the disease is a variant in the COL2A1 gene. This includes spondyloepiphyseal dysplasia congenita, spondyloepiphyseal dysplasia with metatarsal shortening, and spondyloepiphyseal dysplasia with metaphyseal changes."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 6,
  "parents": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112280",
          "GARD:0007687",
          "ICD10CM:Q77.7",
          "ICD9:756.9",
          "MEDGEN:20916",
          "MedDRA:10062920",
          "Orphanet:252",
          "UMLS:C0038015"
        ],
        "synonyms": [
          "SED",
          "spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column and the epiphysis."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    },
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080027",
          "GARD:0026258",
          "MEDGEN:609408",
          "SCTID:254062008",
          "UMLS:C0432211"
        ],
        "synonyms": [
          "SEMD",
          "spondylo-epi-(meta)-physeal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
      },
      "child_count": 23,
      "reference_id": "MONDO:0100510"
    }
  ],
  "children": [
    {
      "id": 8567,
      "label": "Stickler syndrome type 1",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19190,
        20997,
        24324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080676",
          "GARD:0005018",
          "MEDGEN:810955",
          "MESH:C537492",
          "NANDO:2201354",
          "NCIT:C168733",
          "OMIM:108300",
          "Orphanet:90653",
          "UMLS:C2020284",
          "icd11.foundation:203625278"
        ],
        "synonyms": [
          "Stickler syndrome type 1",
          "STL1",
          "Stickler syndrome, membranous vitreous type",
          "Stickler syndrome, type 1",
          "Stickler syndrome, type I",
          "Stickler syndrome, vitreous type 1",
          "arthroophthalmopathy, hereditary progressive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0007160"
    },
    {
      "id": 9763,
      "label": "spondyloepiphyseal dysplasia congenita",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20997,
        24324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14789",
          "GARD:0004987",
          "ICD9:756.9",
          "MEDGEN:412530",
          "MESH:C535788",
          "MedDRA:10062920",
          "NANDO:2201348",
          "NORD:1733",
          "OMIM:183900",
          "Orphanet:94068",
          "SCTID:278713008",
          "UMLS:C2745959"
        ],
        "synonyms": [
          "SED congenita",
          "SEDC",
          "Spondyloepiphyseal Dysplasia, Congenital",
          "Spranger-Wiedemann disease",
          "spondyloepiphyseal dysplasia congenita",
          "spondyloepiphyseal dysplasia, congenital type",
          "congenital spondyloepiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses and flattened vertebral bodies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008471"
    },
    {
      "id": 11266,
      "label": "spondyloperipheral dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20997,
        24324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112195",
          "GARD:0004994",
          "ICD9:758.89",
          "MEDGEN:163223",
          "MESH:C535799",
          "NANDO:2201351",
          "NCIT:C135088",
          "OMIM:271700",
          "Orphanet:1856",
          "SCTID:702339001",
          "UMLS:C0796173"
        ],
        "synonyms": [
          "spondyloperipheral dysplasia",
          "spondyloperipheral dysplasia-short ulna syndrome",
          "spondyloperipheral dysplasia with short ulna"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A condition caused by by truncating mutations in the C-propeptide of COL2A1. Like other type II collagen disorders it is characterized by short stature, platyspondyly and epiphyseal dysplasia. A distinguishing feature is the presence of brachydactyly with a prominent first toe."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010078"
    },
    {
      "id": 12597,
      "label": "mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24324,
        29221
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016812",
          "ICD9:755.63",
          "MEDGEN:609409",
          "MESH:C565740",
          "NANDO:2201352",
          "OMIM:604864",
          "Orphanet:93279",
          "SCTID:254064009",
          "UMLS:C0432214",
          "icd11.foundation:690266690"
        ],
        "synonyms": [
          "Namaqualand hip dysplasia",
          "OSCDP",
          "osteoarthritis with mild chondrodysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis is a type 2 collagen-related bone disorder characterized by precocious, generalized osteoarthritis (with onset as early as childhood) and mild, dysplastic spinal changes (flattening of vertebrae, irregular endplates and wedge-shaped deformities) resulting in a mildly short trunk."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011496"
    },
    {
      "id": 13267,
      "label": "spondyloepiphyseal dysplasia with metatarsal shortening",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20997,
        24324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010220",
          "MEDGEN:324580",
          "MESH:C535766",
          "NANDO:2201353",
          "OMIM:609162",
          "Orphanet:137678",
          "SCTID:720826006",
          "UMLS:C1836683"
        ],
        "synonyms": [
          "Czech dysplasia",
          "Czech dysplasia metatarsal type",
          "Czech dysplasia, metatarsal type",
          "SED with metatarsal shortening",
          "pseudorheumatoid dysplasia, progressive, with hypoplastic toes",
          "spondyloepiphyseal dysplasia with precocious osteoarthritis",
          "pseudorheumatoid dysplasia progressive, with hypoplastic toes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare, genetic, primary bone dysplasia disorder characterized by early-onset, progressive pseudorheumatoid arthritis, platyspondyly, and hypoplasia/dysplasia of the third and fourth metatarsals, in the absence of ophthalmologic, cleft palate, and height anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012206"
    },
    {
      "id": 15695,
      "label": "spondyloepiphyseal dysplasia, Stanescu type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        20997,
        24324
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112281",
          "GARD:0017812",
          "MEDGEN:905084",
          "OMIM:616583",
          "Orphanet:459051",
          "UMLS:C4225273"
        ],
        "synonyms": [
          "SED, Stanescu type",
          "SEDSTN",
          "spondyloepiphyseal dysplasia, Stanescu type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014701"
    }
  ],
  "roots": [
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    },
    {
      "id": 24235,
      "label": "spondyloepimetaphyseal dysplasia"
    }
  ]
}