{
  "id": 20997,
  "label": "type 2 collagenopathy",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0022800",
  "properties": {
    "xrefs": [
      "GARD:0019186",
      "HGNC:2200",
      "MEDGEN:419326",
      "MESH:C535964",
      "NANDO:2201016",
      "Orphanet:93421",
      "UMLS:C2931073"
    ],
    "synonyms": [
      "COL2A1 disease or disorder",
      "collagenopathy type 2 alpha 1",
      "disease or disorder caused by mutation in COL2A1",
      "COL2A1",
      "cartilage collagen",
      "collagen II"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0003900",
        "name": "connective tissue disorder"
      }
    ],
    "definition": "Any disease or disorder in which the cause of the disease is a mutation in the COL2A1 gene."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 14,
  "parents": [
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 6394,
      "label": "collagenopathy",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5762
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 3,
      "reference_id": "MONDO:0004603"
    },
    {
      "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"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        5762
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "MEDGEN:473110",
          "NCIT:C97075",
          "SCTID:363045008",
          "UMLS:C0410787"
        ],
        "synonyms": [
          "Mendelian connective tissue disorder",
          "connective tissue hereditary disorder",
          "hereditary connective tissue disorder",
          "Hereditary Connective Tissue Disorder",
          "Inherited disorder of connective tissue",
          "inherited disorder of connective tissue"
        ],
        "categories": [
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "An inherited genetic disorder that affects the connective tissues. Representative examples include Ehlers-Danlos syndrome and Marfan syndrome."
      },
      "child_count": 176,
      "reference_id": "MONDO:0023603"
    }
  ],
  "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": 8942,
      "label": "multiple epiphyseal dysplasia, Beighton type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17117,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111348",
          "GARD:0017012",
          "MEDGEN:377049",
          "MESH:C565046",
          "OMIM:132450",
          "Orphanet:166011",
          "SCTID:719689005",
          "UMLS:C1851536",
          "icd11.foundation:1115252418"
        ],
        "synonyms": [
          "epiphyseal dysplasia, multiple, with myopia and deafness",
          "EDMMD",
          "epiphyseal dysplasia, multiple, with myopia and conductive deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Multiple epiphyseal dysplasia, Beighton type is a skeletal dysplasia characterized by epiphyseal dysplasia (usually mild) associated with progressive myopia, retinal thinning, crenated cataracts, conductive deafness, and stubby digits."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007562"
    },
    {
      "id": 9230,
      "label": "platyspondylic dysplasia, Torrance type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19472,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111508",
          "GARD:0004382",
          "MEDGEN:331974",
          "MESH:C563627",
          "NANDO:2201347",
          "OMIM:151210",
          "Orphanet:85166",
          "UMLS:C1835437",
          "icd11.foundation:263213426"
        ],
        "synonyms": [
          "PLSD-T",
          "Platyspondylic dysplasia, Torrance-Luton type",
          "Platyspondylic lethal skeletal dysplasia, Torrance type",
          "platyspondylic dysplasia, Torrance type",
          "platyspondylic skeletal dysplasia, Torrance type",
          "PLSDT",
          "Platyspondylic lethal skeletal dysplasia Torrance type",
          "Platyspondylic lethal skeletal dysplasia, Luton type",
          "lethal short-limbed Platyspondylic dwarfism Torrance type",
          "lethal short-limbed Platyspondylic dwarfism, Torrance type",
          "thanatophoric dysplasia Torrance variant",
          "thanatophoric dysplasia, Luton variant",
          "thanatophoric dysplasia, Torrance variant"
        ],
        "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:0007895"
    },
    {
      "id": 9313,
      "label": "Kniest dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7171,
        17208,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080045",
          "GARD:0006841",
          "ICD9:756.9",
          "MEDGEN:75559",
          "MESH:C537207",
          "NANDO:2201350",
          "NCIT:C125594",
          "NORD:1339",
          "OMIM:156550",
          "Orphanet:485",
          "SCTID:53974002",
          "UMLS:C0265279",
          "icd11.foundation:2088691719"
        ],
        "synonyms": [
          "Kniest dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A rare type 2 collagen-related bone disorder characterized by moderately severe chondrodysplasia with disproportionate short stature of prenatal onset, prominent joints with restricted mobility, large epiphyses and dumbbell deformity of the long bones."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007987"
    },
    {
      "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": 9768,
      "label": "spondyloepimetaphyseal dysplasia, Strudwick type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        20997,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080028",
          "GARD:0000134",
          "ICD9:758.89",
          "MEDGEN:147134",
          "NANDO:2201349",
          "OMIM:184250",
          "Orphanet:93346",
          "SCTID:702350003",
          "UMLS:C0700635"
        ],
        "synonyms": [
          "spondyloepimetaphyseal dysplasia, Strudwick type",
          "SEMD, Strudwick type",
          "SEMDSTWK",
          "SMED Strudwick type",
          "SMED type 1",
          "Semdc",
          "SmD",
          "Smed, Strudwick type",
          "Smed, type 1",
          "Strudwick syndrome",
          "dappled metaphysis syndrome",
          "spondyloepimetaphyseal dysplasia Strudwick type",
          "spondyloepimetaphyseal dysplasia congenita, Strudwick type",
          "spondylometaepiphyseal dysplasia congenita, Strudwick type",
          "spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia characterized by disproportionate short stature from birth (with a very short trunk and shortened limbs) and skeletal abnormalities (lordosis, scoliosis, flattened vertebrae, pectus carinatum, coxa vara, clubfoot, and abnormal epiphyses or metaphyses)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008476"
    },
    {
      "id": 9770,
      "label": "spondylometaphyseal dysplasia, Schmidt type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112296",
          "GARD:0000504",
          "MEDGEN:356595",
          "MESH:C535794",
          "OMIM:184253",
          "Orphanet:93316",
          "SCTID:719304005",
          "UMLS:C1866688",
          "icd11.foundation:1092012084"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia Algerian type",
          "spondylometaphyseal dysplasia Schmidt type",
          "spondylometaphyseal dysplasia with severe genu valgum",
          "spondylometaphyseal dysplasia, Algerian type",
          "spondylometaphyseal dysplasia, Schmidt type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A spondylometaphyseal dysplasia caused by a variation in COL2A1 gene. It is characterized by short stature, myopia, small pelvis, progressive kypho-scoliosis, wrist deformity, severe genu valgum, short long bones, and severe metaphyseal dysplasia with moderate spinal changes and minimal changes in the hands and feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008478"
    },
    {
      "id": 9771,
      "label": "spondylometaphyseal dysplasia, 'corner fracture' type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112297",
          "GARD:0004991",
          "MEDGEN:98146",
          "MESH:C535793",
          "OMIM:184255",
          "Orphanet:93315",
          "SCTID:254078005",
          "UMLS:C0432221",
          "icd11.foundation:1295452752"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia, Sutcliffe type",
          "SMDCF",
          "Sutcliffe SmD",
          "Sutcliffe type of spondylometaphyseal dysplasia",
          "spondylometaphyseal dysplasia Sutcliffe type",
          "spondylometaphyseal dysplasia corner fracture type",
          "spondylometaphyseal dysplasia, corner fracture type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A type of skeletal dysplasia associated with short stature, developmental coxa vara, progressive hip deformity, simulated 'corner fractures' of long tubular bones and vertebral body abnormalities (mostly oval vertebral bodies)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008479"
    },
    {
      "id": 9975,
      "label": "achondrogenesis type II",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080056",
          "GARD:0008713",
          "MEDGEN:66315",
          "MESH:C536017",
          "NANDO:2201345",
          "OMIM:200610",
          "Orphanet:93296",
          "UMLS:C0220685"
        ],
        "synonyms": [
          "achondrogenesis type II",
          "achondrogenesis, Langer-Saldino type",
          "achondrogenesis, type II or hypochondrogenesis",
          "ACG2",
          "achondrogenesis type 2",
          "achondrogenesis, type 2",
          "achondrogenesis, type IB",
          "achondrogenesis, type IB, formerly",
          "achondrogenesis, type II",
          "chondrogenesis imperfecta",
          "hypochondrogenesis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "Achondrogenesis type 2 (ACG2), a form of achondrogenesis, is a very rare and lethal skeletal dysplasia and part of the spectrum of type 2 collagen-related bone disorders, characterizedby severe micromelia, short neck with large head, small thorax, protuberant abdomen, underdeveloped lungs, distinctive facial features such as a prominent forehead, a small chin, a cleft palate (in some) and distinctive histological features of the cartilage."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008702"
    },
    {
      "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": 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"
    },
    {
      "id": 19455,
      "label": "hypochondrogenesis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19438,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080044",
          "GARD:0016815",
          "MEDGEN:107448",
          "MESH:C563007",
          "NANDO:2201346",
          "Orphanet:93297",
          "UMLS:C0542428",
          "icd11.foundation:1494246635"
        ],
        "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:0019669"
    },
    {
      "id": 29221,
      "label": "dysplasia of the proximal femoral epiphyses",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027112",
          "MEDGEN:481394",
          "UMLS:C3279764"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ],
        "definition": "A developmental disorder affecting the growth and development of the proximal end of the femur (thigh bone) near the hip joint characterized by avascular necrosis of the femoral head, cystic changes of the femoral head, and/or sclerosis of the femoral head. It is a relatively milder form of the other skeletal disorders associated with COL2A1."
      },
      "child_count": 3,
      "reference_id": "MONDO:1030002"
    }
  ],
  "roots": [
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 6394,
      "label": "collagenopathy"
    },
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    },
    {
      "id": 21247,
      "label": "hereditary disorder of connective tissue"
    }
  ]
}