{
  "id": 17208,
  "label": "spondylometaphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016763",
  "properties": {
    "xrefs": [
      "DOID:0112295",
      "GARD:0018685",
      "MEDGEN:1674850",
      "OMIMPS:184255",
      "Orphanet:254",
      "UMLS:C4759767",
      "icd11.foundation:181781948"
    ],
    "synonyms": [
      "spondylometaphyseal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Spondylometaphyseal dysplasias are a heterogeneous group of disorders associated with walking and growth disturbances that become evident during the second year of life."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 19,
  "parents": [
    {
      "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"
    }
  ],
  "children": [
    {
      "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": 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": 9769,
      "label": "spondylometaphyseal dysplasia, Kozlowski type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        18364
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111554",
          "GARD:0003047",
          "MEDGEN:82698",
          "MESH:C535797",
          "OMIM:184252",
          "Orphanet:93314",
          "UMLS:C0265280",
          "icd11.foundation:360868302"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia, Kozlowski type",
          "Dysmorphism arthrogryposis skeletal maturation advanced",
          "Jequier Kozlowski skeletal dysplasia",
          "Jequier-Kozlowski syndrome",
          "SMDK",
          "SmD Kozlowski type",
          "SmD, Kozlowski type",
          "skeletal dysplasia Jequier-Kozlowski type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008477"
    },
    {
      "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": 10813,
      "label": "spondylometaphyseal dysplasia, Sedaghatian type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        22996,
        24805
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112298",
          "GARD:0004993",
          "MEDGEN:340816",
          "MESH:C535798",
          "OMIM:250220",
          "Orphanet:93317",
          "UMLS:C1855229",
          "icd11.foundation:975738106"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia, Sedaghatian type",
          "SMDS",
          "Sedaghatian chondrodysplasia",
          "lethal metaphyseal dysplasia",
          "metaphyseal chondrodysplasia, congenital lethal",
          "spondylometaphyseal dysplasia Sedaghatian type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasia (SEMD), Sedaghatian type is a neonatal lethal form of spondylometaphyseal dysplasia characterized by severe metaphyseal chondrodysplasia, mild rhizomelic shortness of the upper limbs, and mild platyspondyly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009593"
    },
    {
      "id": 11878,
      "label": "spondylometaphyseal dysplasia, Golden type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008343",
          "MEDGEN:208672",
          "MESH:C563124",
          "OMIM:313420",
          "Orphanet:168544",
          "UMLS:C0796172",
          "icd11.foundation:840695879"
        ],
        "synonyms": [
          "X-linked spondylometaphyseal dysplasia",
          "spondylometaphyseal dysplasia Richmond type",
          "spondylometaphyseal dysplasia X-linked",
          "spondylometaphyseal dysplasia, Richmond type",
          "spondylometaphyseal dysplasia, X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasia, Golden type is a rare primary bone dysplasia disorder characterized by severe short stature, coarse facies, thoracolumbar kyphoscoliosis and enlarged joints with contractures. Psychomotor delay and intellectual disability may also be associated. Radiographic features include flat vertebral bodies, lacy ossification of the metaphyses of long bones and iliac crests, and marked sclerosis of the skull base."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010738"
    },
    {
      "id": 12332,
      "label": "axial spondylometaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        19471
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112299",
          "GARD:0008720",
          "MEDGEN:356065",
          "MESH:C535795",
          "OMIM:602271",
          "Orphanet:168549",
          "UMLS:C1865695",
          "icd11.foundation:834893572"
        ],
        "synonyms": [
          "SMDAX",
          "SmD axial",
          "SmD, axial",
          "axial SmD",
          "spondylometaphyseal dysplasia axial type",
          "spondylometaphyseal dysplasia, axial"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Axial spondylometaphyseal dysplasia is a genetic disorder of bone growth. The term axial means towards the center of the body. Sphondylos is a Greek term meaning vertebra. Metaphyseal dysplasia refers to abnormalities at the ends of long bones.Axial spondylometaphyseal dysplasia primarily affects the bones of the chest, pelvis, spine,upper arms and upper legs, and results in shortened stature.For reasons not well understood,this rare skeletal dysplasia is also associated withearly and progressivevision loss. The underlying genetic cause of axial spondylometaphyseal dysplasia is currently unknown.It is thought to be inherited in an autosomal recessive fashion."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011211"
    },
    {
      "id": 12937,
      "label": "spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112305",
          "GARD:0008719",
          "MEDGEN:375263",
          "MESH:C535791",
          "OMIM:607543",
          "Orphanet:168552",
          "UMLS:C1843706"
        ],
        "synonyms": [
          "SmD with bowed forearms and Facial Dysmorphism",
          "SmD with with bowed forearms and facial dysmorphism",
          "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0011856"
    },
    {
      "id": 13013,
      "label": "Spondyloenchondrodysplasia with immune dysregulation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        21247,
        25666
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004978",
          "ICD9:756.9",
          "ICD9:759.89",
          "MEDGEN:375009",
          "MESH:C535782",
          "MESH:C564307",
          "NANDO:2200744",
          "OMIM:271550",
          "OMIM:607944",
          "Orphanet:1855",
          "Orphanet:50816",
          "SCTID:254079002",
          "SCTID:703523004",
          "UMLS:C1842763"
        ],
        "synonyms": [
          "Roifman Immunoskeletal syndrome",
          "SPENCD",
          "SPENCDI",
          "Spondyloenchondrodysplasia with immune dysregulation",
          "combined immunodeficiency with autoimmunity and spondylometaphyseal dysplasia",
          "spondyloenchondrodysplasia",
          "spondyloenchondrodysplasia with immune dysregulation",
          "spondyloenchondromatosis",
          "spondylometaphyseal dysplasia with combined immunodeficiency",
          "spondylometaphyseal dysplasia with enchondromatous changes",
          "SEM"
        ],
        "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:0011939"
    },
    {
      "id": 13223,
      "label": "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112300",
          "GARD:0010647",
          "MEDGEN:324684",
          "MESH:C563825",
          "OMIM:608940",
          "Orphanet:85167",
          "UMLS:C1837073"
        ],
        "synonyms": [
          "SMD-CRD",
          "SmD-CRD",
          "spondylometaphyseal dysplasia-cone-rod dystrophy syndrome",
          "SMDCRD",
          "spondylometaphyseal dysplasia with cone-rod dystrophy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome is characterized by the association of spondylometaphyseal dysplasia (marked by platyspondyly, shortening of the tubular bones and progressive metaphyseal irregularity and cupping), with postnatal growth retardation and progressive visual impairment due to cone-rod dystrophy. So far, it has been described in eight individuals. Transmission appears to be autosomal recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012160"
    },
    {
      "id": 13248,
      "label": "spondylometaphyseal dysplasia, A4 type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112301",
          "GARD:0000458",
          "MEDGEN:324620",
          "MESH:C563803",
          "OMIM:609052",
          "Orphanet:168555",
          "UMLS:C1836862",
          "icd11.foundation:696316924"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia A4 type",
          "spondylometaphyseal dysplasia type A4",
          "spondylometaphyseal dysplasia, type A4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012185"
    },
    {
      "id": 13753,
      "label": "spondylometaphyseal dysplasia, East African type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112302",
          "GARD:0004992",
          "MEDGEN:388701",
          "MESH:C535796",
          "OMIM:611702",
          "UMLS:C2673686"
        ],
        "synonyms": [
          "spondylometaphyseal dysplasia, East African type",
          "spondylometaphyseal dysplasia East-African type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0012713"
    },
    {
      "id": 14259,
      "label": "autosomal recessive spondylometaphyseal dysplasia, Megarbane type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208,
        24805
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112304",
          "GARD:0017667",
          "MEDGEN:413221",
          "MESH:C567644",
          "OMIM:613320",
          "Orphanet:401979",
          "UMLS:C2750075"
        ],
        "synonyms": [
          "PAM16 spondylodysplastic dysplasia",
          "spondylodysplastic dysplasia caused by mutation in PAM16",
          "spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type",
          "SMDMDM",
          "autosomal recessive spondylometaphyseal dysplasia, Mégarbané type",
          "chondrodysplasia, Megarbane-Dagher-Melki type",
          "spondylometaphyseal dysplasia, MEGARBANE-DAGHER-MELKI type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Any spondylodysplastic dysplasia in which the cause of the disease is a mutation in the PAM16 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013223"
    },
    {
      "id": 18376,
      "label": "spondylometaphyseal dysplasia, Czarny-Ratajczak type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021587",
          "Orphanet:370019"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018255"
    },
    {
      "id": 18655,
      "label": "regressive spondylometaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017782",
          "MEDGEN:1648288",
          "OMIM:618019",
          "Orphanet:448267",
          "UMLS:C4747922"
        ],
        "synonyms": [
          "Pelger-Huet anomaly with mild skeletal anomalies",
          "regressive spondylometaphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018663"
    },
    {
      "id": 21943,
      "label": "spondylometaphyseal dysplasia, pagnamenta type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025579",
          "MEDGEN:1794240",
          "OMIM:619638",
          "UMLS:C5562030"
        ],
        "synonyms": [
          "SMDP"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0030487"
    },
    {
      "id": 22224,
      "label": "odontochondrodysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17208,
        29241
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025695",
          "MEDGEN:411198",
          "OMIMPS:184260",
          "UMLS:C2745953"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 4,
      "reference_id": "MONDO:0031169"
    },
    {
      "id": 25134,
      "label": "SBDS-related severe neonatal spondylometaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17208
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022491",
          "MEDGEN:1843152",
          "Orphanet:622934",
          "UMLS:C5680412"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850096"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}