{
  "id": 17206,
  "label": "spondyloepiphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0016761",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 44,
  "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"
    }
  ],
  "children": [
    {
      "id": 9079,
      "label": "hip dysplasia, Beukes type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111367",
          "GARD:0002690",
          "MEDGEN:333593",
          "MESH:C564185",
          "OMIM:142669",
          "Orphanet:2114",
          "SCTID:721148005",
          "UMLS:C1840572"
        ],
        "synonyms": [
          "BFHD",
          "Beukes familial hip dysplasia",
          "Cilliers-Beighton syndrome",
          "hip dysplasia, Beukes type",
          "premature degenerative osteoarthropathy of the hip",
          "BHD",
          "Beukes hip dysplasia",
          "hip dysplasia Beukes type",
          "osteoarthropathy, premature degenerative, of hip"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Beukes familial hip dysplasia (BFHD) is a primary bone dysplasia, characterized by premature degenerative arthropathy of the hip. The disease presents with hip joint discomfort/pain and gait disturbances that usually develops in childhood and that progresses to severe functional disability and limited mobility by early adulthood. Involvement of the vertebral bodies and other joints is minimal, height is not significantly reduced, and general health is unimpaired. Radiographically, the femoral heads are flattened and irregular and degenerative osteoarthritis develops in the hip joints, as evidenced by the presence of periarticular cysts, sclerosis, and joint space narrowing."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007726"
    },
    {
      "id": 9089,
      "label": "spondyloepiphyseal dysplasia with congenital joint dislocations",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        17206,
        18954
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050813",
          "GARD:0013169",
          "ICD9:756.9",
          "MEDGEN:373381",
          "MESH:C537283",
          "OMIM:143095",
          "Orphanet:263463",
          "SCTID:702400006",
          "UMLS:C1837657"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia",
          "CHST3-related skeletal dysplasia",
          "Humerospinal dysostosis",
          "SDCD, CHST3 type",
          "chondrodysplasia with congenital joint dislocations, CHST3 type",
          "chondrodysplasia with multiple dislocations",
          "spondyloepiphyseal dysplasia with congenital joint dislocations",
          "spondyloepiphyseal dysplasia with congenital joint dyslocations, CHST3 type",
          "Gollop Coates syndrome",
          "SEDCJD",
          "bifurcation of distal humerus with oligoectro-syndactyly",
          "spondyloepiphyseal dysplasia with congenital JOINT dislocations",
          "spondyloepiphyseal dysplasia, Omani type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "CHST3-related skeletal dysplasia is a very rare bone disorder characterized clinically by short stature of prenatal onset; dislocation of the knees, hips or elbows; club feet; limitation of range of motion of large joints; progressive kyphosis; and occasional scoliosis. In a few patients, minor heart valve dysplasia has also been described. Intellect, vision and hearing are normal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007738"
    },
    {
      "id": 9279,
      "label": "Marshall syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7019,
        16089,
        17206,
        19138
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111510",
          "GARD:0006984",
          "ICD9:759.89",
          "MEDGEN:82694",
          "MESH:C536025",
          "NCIT:C128115",
          "NORD:1407",
          "OMIM:154780",
          "Orphanet:560",
          "SCTID:33410002",
          "UMLS:C0265235",
          "icd11.foundation:1401051186"
        ],
        "synonyms": [
          "Marshall syndrome",
          "MRSHS",
          "deafness, myopia, cataract, saddle nose-Marshall type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002051",
            "name": "integumentary system disorder"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Marshall syndrome is a malformation syndrome that is characterized by facial dysmorphism, severe hypoplasia of the nasal bones and frontal sinuses, ocular involvement, early-onset hearing loss, skeletal and anhidrotic ectodermal anomalies and short stature with spondyloepiphyseal dysplasia and early-onset osteoarthritis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007949"
    },
    {
      "id": 9312,
      "label": "metatropic dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206,
        18364
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111514",
          "GARD:0003571",
          "MEDGEN:82699",
          "MESH:C537356",
          "NCIT:C175209",
          "NORD:1445",
          "OMIM:156530",
          "Orphanet:2635",
          "SCTID:22764001",
          "UMLS:C0265281"
        ],
        "synonyms": [
          "Metatropic Dysplasia I",
          "Metatropic dwarfism",
          "metatropic dysplasia",
          "Metatropic dysplasia, nonlethal dominant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Metatropic dysplasia (MTD) is a rare spondyloepimetaphyseal dysplasia characterized by a long trunk and short limbs in infancy followed by severe and progressive kyphoscoliosis causing a reversal in proportions during childhood (short trunk and long limbs) and a final short stature in adulthood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007986"
    },
    {
      "id": 9762,
      "label": "spondyloepiphyseal dysplasia with punctate corneal dystrophy",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112286",
          "GARD:0024624",
          "MEDGEN:357119",
          "MESH:C566660",
          "OMIM:183850",
          "Orphanet:163673",
          "UMLS:C1866727"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia with punctate corneal dystrophy",
          "spondyloepiphyseal dysplasia, Byers type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0008470"
    },
    {
      "id": 9764,
      "label": "spondyloepiphyseal dysplasia, MacDermot type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016996",
          "MEDGEN:401067",
          "MESH:C566659",
          "OMIM:184000",
          "Orphanet:163668",
          "UMLS:C1866719",
          "icd11.foundation:800575171"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia-myopia-sensorineural deafness syndrome",
          "spondyloepiphyseal dysplasia, myopia, and sensorineural deafness"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondyloepiphyseal dysplasia (SED), MacDermot type is characterized by short stature, femoral epiphyseal dysplasia, mild vertebral changes and sensorineural deafness."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008472"
    },
    {
      "id": 10094,
      "label": "progressive pseudorheumatoid arthropathy of childhood",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090004",
          "GARD:0009184",
          "ICD9:756.9",
          "MEDGEN:96581",
          "MESH:C535387",
          "OMIM:208230",
          "Orphanet:1159",
          "SCTID:254065005",
          "UMLS:C0432215",
          "icd11.foundation:280808713"
        ],
        "synonyms": [
          "progressive pseudorheumatoid arthropathy of childhood",
          "spondyloepiphyseal dysplasia tarda-progressive arthropathy syndrome",
          "PPAC",
          "PPD",
          "SEDT-PA",
          "arthropathy, progressive pseudorheumatoid, of childhood",
          "progressive pseudorheumatoid chondrodysplasia",
          "progressive pseudorheumatoid dysplasia",
          "spondyloepiphyseal dysplasia tarda - progressive arthropathy",
          "spondyloepiphyseal dysplasia tarda with progressive arthropathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Progressive pseudorheumatoid arthropathy (dysplasia) of childhood (PPAC; PPD) presents as spondyloepiphyseal dysplasia (SED) tarda with progressive arthropathy and is described as a specific autosomal recessive subtype of SED."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008827"
    },
    {
      "id": 10233,
      "label": "otospondylomegaepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080026",
          "GARD:0004130",
          "ICD9:759.89",
          "MEDGEN:1617409",
          "OMIMPS:184840",
          "Orphanet:1427",
          "SCTID:254060000",
          "UMLS:C4520892",
          "icd11.foundation:1885284987"
        ],
        "synonyms": [
          "OSMED",
          "otospondylmegaepiphyseal dysplasia",
          "otospondylomegaepiphyseal dysplasia",
          "Insley-Astley syndrome",
          "Nance Sweeney chondrodysplasia",
          "OSMED syndrome",
          "oto-spondylo-mega-epiphyseal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies."
      },
      "child_count": 2,
      "reference_id": "MONDO:0008975"
    },
    {
      "id": 10374,
      "label": "Dyggve-Melchior-Clausen disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111167",
          "GARD:0006295",
          "MEDGEN:120527",
          "NCIT:C124844",
          "NORD:1068",
          "OMIM:223800",
          "Orphanet:239",
          "SCTID:82699004",
          "UMLS:C0265286",
          "icd11.foundation:21266164"
        ],
        "synonyms": [
          "Dyggve Melchior Clausen syndrome",
          "Dyggve-Melchior-Clausen disease",
          "Dyggve-Melchior-Clausen syndrome",
          "DMC",
          "DMC syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Dyggve-Melchior-Clausen disease (DMC) is a rare skeletal disorder belonging to the group of spondyloepimetaphyseal dysplasias."
      },
      "child_count": 2,
      "reference_id": "MONDO:0009130"
    },
    {
      "id": 10383,
      "label": "dyssegmental dysplasia, Rolland-Desbuquois type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009810",
          "ICD9:756.59",
          "MEDGEN:98145",
          "MESH:C537999",
          "OMIM:224400",
          "Orphanet:156731",
          "SCTID:95243004",
          "UMLS:C0432209",
          "icd11.foundation:1291444727"
        ],
        "synonyms": [
          "dyssegmental dysplasia, Rolland-Desbuquois type",
          "Anisospondylic Camptomicromelic dwarfism, Rolland-Desbuquois type",
          "Anisospondylic camptomicromelic dwarfism Rolland-Desbuquois type",
          "Ddrd",
          "dyssegmental dwarfism Rolland-Desbuquois type",
          "dyssegmental dwarfism, Rolland-Desbuquois type",
          "dyssegmental dysplasia Rolland-Desbuquois type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009139"
    },
    {
      "id": 10384,
      "label": "Silverman-Handmaker type dyssegmental dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16753,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090032",
          "GARD:0002026",
          "ICD9:759.89",
          "MEDGEN:347372",
          "MESH:C537998",
          "OMIM:224410",
          "Orphanet:1865",
          "SCTID:93132001",
          "UMLS:C1857100"
        ],
        "synonyms": [
          "Anisospondylic Camptomicromelic dwarfism, Silverman-Handmaker type",
          "Anisospondylic camptomicromelic dwarfism Silverman-Handmaker type",
          "DDSH",
          "dyssegmental dwarfism Silverman-Handmaker type",
          "dyssegmental dwarfism, Silverman-Handmaker type",
          "dyssegmental dysplasia Silverman-Handmaker type",
          "dyssegmental dysplasia, Silverman-Handmaker type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Dyssegmental dysplasia, Silverman-Handmaker type is a rare, genetic, primary bone dysplasia, and lethal form of neonatal short-limbed dwarfism, characterized by anisospondyly, severe short stature and limb shortening, metaphyseal flaring and distinct dysmorphic features (i.e. flat facial appearance, abnormal ears, short neck, narrow thorax). Additional features may include other skeletal findings (e.g. joint contractures, bowed limbs, talipes equinovarus) and urogenital and cardiovascular abnormalities."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009140"
    },
    {
      "id": 10435,
      "label": "Wolcott-Rallison syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090060",
          "GARD:0005589",
          "MEDGEN:140926",
          "MESH:C536739",
          "NCIT:C131007",
          "OMIM:226980",
          "Orphanet:1667",
          "SCTID:254066006",
          "UMLS:C0432217",
          "icd11.foundation:2096915129"
        ],
        "synonyms": [
          "WRS",
          "Wolcott-Rallison syndrome",
          "early-onset diabetes mellitus with multiple epiphyseal dysplasia",
          "IDDM-MED syndrome",
          "Iddm-Med syndrome",
          "MED-IDDM syndrome",
          "Med-Iddm syndrome",
          "Wolcott Rallison syndrome",
          "epiphyseal dysplasia multiple with early-onset diabetes mellitus",
          "epiphyseal dysplasia, multiple, with early-onset diabetes mellitus"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Wolcott-Rallison syndrome (WRS) is a very rare genetic disease, characterized by permanent neonatal diabetes mellitus (PNDM) with multiple epiphyseal dysplasia and other clinical manifestations, including recurrent episodes of acute liver failure."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009192"
    },
    {
      "id": 10685,
      "label": "Schimke immuno-osseous dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16471,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060490",
          "GARD:0004984",
          "MEDGEN:164078",
          "MESH:C536629",
          "MedDRA:10048699",
          "NANDO:1200337",
          "NANDO:2200711",
          "NCIT:C135087",
          "NORD:1691",
          "OMIM:242900",
          "Orphanet:1830",
          "SCTID:723995003",
          "UMLS:C0877024",
          "icd11.foundation:2002226225"
        ],
        "synonyms": [
          "Schimke immuno-osseous dysplasia",
          "Schimke immunoosseous dysplasia",
          "Schimke syndrome",
          "spondyloepiphyseal dysplasia - nephrotic syndrome",
          "spondyloepiphyseal dysplasia-nephrotic syndrome",
          "IMMUNOOSSEOUS dysplasia, Schimke type",
          "SIOD",
          "Schimke IMMUNOOSSEOUS dysplasia",
          "Schimke Immunoosseous dysplasia",
          "spondyloepiphyseal dysplasia nephrotic syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ],
        "definition": "A multisystem disorder characterized by spondyloepiphyseal dysplasia and disproportionate short stature, facial dysmorphism, T-cell immunodeficiency, and glomerulonephritis with nephrotic syndrome."
      },
      "child_count": 0,
      "reference_id": "MONDO:0009458"
    },
    {
      "id": 10929,
      "label": "Richieri Costa-da Silva syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16089,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004709",
          "MEDGEN:419686",
          "MESH:C535675",
          "OMIM:255710",
          "Orphanet:3101",
          "UMLS:C2930978"
        ],
        "synonyms": [
          "myotonia-intellectual disability-skeletal anomalies syndrome",
          "Richieri Costa Da Silva syndrome",
          "myotonia with skeletal abnormalities and intellectual disability",
          "myotonia with skeletal abnormalities and mental retardation"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0009716"
    },
    {
      "id": 10930,
      "label": "Schwartz-Jampel syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        7611,
        16753,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000250",
          "ICD10CM:G71.13",
          "ICD9:759.89",
          "MEDGEN:19892",
          "NANDO:1200224",
          "NANDO:2100235",
          "NANDO:2200876",
          "NCIT:C35008",
          "NORD:1697",
          "Orphanet:800",
          "SCTID:29145002",
          "UMLS:C0036391",
          "icd11.foundation:1725668060"
        ],
        "synonyms": [
          "Aberfeld syndrome",
          "Catel-Hempel syndrome",
          "Catel-Hempel type dysostosis enchondralis metaepiphysaria",
          "Osteochondromuscular dystrophy",
          "SJS",
          "Schwartz Jampel Syndrome",
          "Schwartz-Jampel syndrome",
          "Schwartz-Jampel-Aberfeld syndrome",
          "burton skeletal dysplasia",
          "burton syndrome",
          "dysostosis enchondralis metaepiphysaria, Catel-Hempel type",
          "myotonic chondrodystrophy",
          "myotonic myopathy, dwarfism, chondrodystrophy, ocular and facial anomalies",
          "osteochondromuscular dystrophy",
          "Schwartz Jampel Aberfeld syndrome",
          "Schwartz Jampel syndrome",
          "myotonic myopathy dwarfism chondrodystrophy and ocular and facial abnormalities",
          "myotonic myopathy, dwarfism, chondrodystrophy, and ocular and Facial abnormalities"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "A rare, genetic neuromuscular disease characterized by permanent myotonia, mask-like facies (with blepharospasm, narrow palpebral fissures, small mouth with pursed lips and puckered chin) , and chondrodysplasia (variably manifesting with short stature, pectus carinatum, kyphoscoliosis, bowing of long bones, epiphyseal, metaphyseal, and hip dysplasia)."
      },
      "child_count": 8,
      "reference_id": "MONDO:0009717"
    },
    {
      "id": 11424,
      "label": "X-linked spondyloepimetaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112150",
          "GARD:0004979",
          "MEDGEN:376281",
          "MESH:C564714",
          "OMIM:300106",
          "Orphanet:93349",
          "UMLS:C1848097"
        ],
        "synonyms": [
          "spondyloepimetaphyseal dysplasia, X-linked",
          "spondyloepimetaphyseal dysplasia, X-linked, X-linked recessive",
          "SEMD X-linked",
          "SEMD, X-linked",
          "SEMDX",
          "spondylo-epimetaphyseal dysplasia",
          "spondyloepimetaphyseal dysplasia X-linked"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "X-linked form of spondyloepimetaphyseal dysplasia."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010248"
    },
    {
      "id": 12013,
      "label": "CODAS syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111274",
          "GARD:0001418",
          "MEDGEN:333031",
          "MESH:C536434",
          "NCIT:C126744",
          "OMIM:600373",
          "Orphanet:1458",
          "SCTID:717772000",
          "UMLS:C1838180"
        ],
        "synonyms": [
          "CODAS syndrome",
          "cerebrooculodentoauriculoskeletal syndrome",
          "cerebral, ocular, dental, auricular, and skeletal anomalies syndrome",
          "cerebral, ocular, dental, auricular, and skeletal syndrome",
          "cerebro-oculo-dento-auriculo-skeletal syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Codas syndrome is a multiple congenital anomalies syndrome characterized by Cerebral, Ocular, Dental, Auricular and Skeletal anomalies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010879"
    },
    {
      "id": 12035,
      "label": "spondyloepiphyseal dysplasia, Reardon type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016994",
          "MEDGEN:322238",
          "MESH:C563472",
          "OMIM:600561",
          "Orphanet:163662",
          "SCTID:718764004",
          "UMLS:C1833603",
          "icd11.foundation:1019322569"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia with atlantoaxial instability"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondyloepiphyseal dysplasia, Reardon type is an extremely rare type of spondyloepiphyseal dysplasia described in several members of a single family to date and characterized by short stature, vertebral and femoral abnormalities, cervical instability and neurologic manifestations secondary to anomalies of the odontoid process."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010902"
    },
    {
      "id": 12144,
      "label": "brachyolmia-amelogenesis imperfecta syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090143",
          "GARD:0005478",
          "MEDGEN:318659",
          "OMIM:601216",
          "Orphanet:2899",
          "SCTID:716195006",
          "UMLS:C1832594"
        ],
        "synonyms": [
          "DASS",
          "Verloes-Bourguignon syndrome",
          "dental anomalies and short stature",
          "platyspondyly with amelogenesis imperfecta",
          "platyspondyly-amelogenesis imperfecta syndrome",
          "tooth agenesis, selective, 6",
          "Verloes Bourguignon syndrome",
          "amelogenesis imperfecta and platyspondyly",
          "skeletal dysplasia with amelogenesis imperfecta and platyspondyly",
          "tooth agenesis, selective, 6, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An exceedingly rare form of brachyolmia, characterized by mild platyspondyly, broad ilia, elongated femoral necks with coxa valga, scoliosis, and short trunked short stature associated with amelogenesis imperfecta of both primary and permanent dentition."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011018"
    },
    {
      "id": 12381,
      "label": "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and intellectual disability",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112294",
          "GARD:0016993",
          "MEDGEN:355919",
          "MESH:C566515",
          "OMIM:602611",
          "Orphanet:163649",
          "SCTID:718766002",
          "UMLS:C1865134"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia with coronal craniosynostosis, cataracts, cleft palate, and mental retardation",
          "spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataract-intellectual disability syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepiphyseal dysplasia characterized by spondyloepiphyseal dysplasia, craniosynostosis, cataracts, cleft palate and intellectual deficit. This is an n-of-1 use case where only one patient or family has been described with this disorder."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011261"
    },
    {
      "id": 12857,
      "label": "anauxetic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080942",
          "GARD:0009657",
          "MEDGEN:375972",
          "MESH:C538256",
          "OMIMPS:607095",
          "Orphanet:93347",
          "UMLS:C1846796",
          "icd11.foundation:1897630209"
        ],
        "synonyms": [
          "anauxetic dysplasia",
          "anauxetic dysplasia type 1",
          "spondyloepimetaphyseal dysplasia, Menger type",
          "spondyloepimetaphyseal dysplasia, anauxetic type",
          "spondylometaepiphyseal dysplasia, Menger type",
          "ANXD1",
          "anauxetic dysplasia 1",
          "spondylometaepiphyseal dysplasia Menger type",
          "spondylometaepiphyseal dysplasia anauxetic type",
          "spondylometaepiphyseal dysplasia, anauxetic type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia that is characterized by the prenatal onset of extreme short stature, an adult height of less than 85 cm, hypodontia, and mild mental retardation."
      },
      "child_count": 3,
      "reference_id": "MONDO:0011773"
    },
    {
      "id": 13088,
      "label": "spondyloepiphyseal dysplasia, Kimberley type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206,
        29322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112282",
          "GARD:0016814",
          "MEDGEN:330777",
          "MESH:C564252",
          "OMIM:608361",
          "Orphanet:93283",
          "SCTID:719203001",
          "UMLS:C1842149",
          "icd11.foundation:485470320"
        ],
        "synonyms": [
          "spondyloepiphyseal dysplasia, Kimberley type",
          "SEDK",
          "Sedk"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepiphyseal dysplasia caused by a single allele variation in ACAN gene, characterized by short stature and premature degenerative arthropathy."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012019"
    },
    {
      "id": 13756,
      "label": "spondyloepiphyseal dysplasia, Cantu type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112287",
          "GARD:0010629",
          "MEDGEN:435975",
          "MESH:C567128",
          "OMIM:611717",
          "Orphanet:163654",
          "SCTID:718765003",
          "UMLS:C2673649",
          "icd11.foundation:897226700"
        ],
        "synonyms": [
          "SED-BDS",
          "spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome",
          "tattoo dysplasia",
          "Sed-BDS",
          "Tatoo dysplasia",
          "fantasy Island syndrome",
          "spondyloepiphyseal dysplasia-brachydactyly and distinctive speech"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondyloepiphyseal dysplasia, Cantu type is an extremely rare type of spondyloepiphyseal dysplasia described in about 5 patients to date and characterized by clinical signs including short stature, peculiar facies with blepharophimosis, upward slanted eyes, abundant eyebrows and eyelashes, coarse voice, and short hands and feet (brachymetacarpalia, brachymetatarsalia and brachyphalangia)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012716"
    },
    {
      "id": 13913,
      "label": "Ehlers-Danlos syndrome, spondylocheirodysplastic type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8908,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080739",
          "GARD:0012610",
          "MEDGEN:393515",
          "MESH:C567340",
          "OMIM:612350",
          "Orphanet:157965",
          "UMLS:C2676510",
          "icd11.foundation:1653521697"
        ],
        "synonyms": [
          "EDS, spondylocheirodysplastic type",
          "EDSSPD3",
          "Ehlers-Danlos syndrome, spondylodysplastic type, 3",
          "SCD-EDS",
          "spondylocheirodysplasia, Ehlers-Danlos syndrome-like"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Ehlers-Danlos syndrome, spondylocheirodysplastic type is a subtype of Ehlers-Danlos syndrome characterized by skeletal dysplasia comprising platyspondyly with moderate short stature, osteopenia and widened metaphyses, in addition to hyperextensible, thin, easily bruised skin, hypermobility of small joints with tendency to contractures, prominent eyes with bluish sclerae, wrinkled palms, atrophy of the thenar muscle and tapering fingers."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012873"
    },
    {
      "id": 14264,
      "label": "spondylo-megaepiphyseal-metaphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017154",
          "MEDGEN:412869",
          "MESH:C567639",
          "OMIM:613330",
          "Orphanet:228387",
          "UMLS:C2750066"
        ],
        "synonyms": [
          "spondylo-megaepiphyseal-metaphyseal dysplasia",
          "SMMD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013228"
    },
    {
      "id": 14268,
      "label": "brachydactylous dwarfism, Mseleni type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000960",
          "MEDGEN:419408",
          "MESH:C537086",
          "OMIM:613342",
          "Orphanet:2619",
          "SCTID:715470008",
          "UMLS:C2931420",
          "icd11.foundation:419953164"
        ],
        "synonyms": [
          "Mseleni joint disease",
          "Mseleni JOINT disease",
          "brachydactylous dwarfism Mseleni type",
          "brachydactylous dwarfs of Mseleni"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Mseleni joint disease (MJD) is a rare and crippling chondrodysplasia, reported mainly in the Maputaland region in northern Kwazulu Natal, South Africa, characterized by a bilateral and uniform arthropathy of the joints that primarily and most severely affects the hip but that can also affect many other joints (i.e. knees, ankles, wrists, shoulders, elbows), and that manifests with pain and stiffness that progressively limits joint movement, eventually compromising a patient's ability to walk. Severe short staure and brachydactyly have been reported in a few patients with MJD."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013232"
    },
    {
      "id": 14882,
      "label": "TMEM165-congenital disorder of glycosylation",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7157,
        17206,
        17973
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0070263",
          "GARD:0012413",
          "MEDGEN:766485",
          "OMIM:614727",
          "Orphanet:314667",
          "SCTID:732252005",
          "UMLS:C3553571"
        ],
        "synonyms": [
          "CDG syndrome type IIk",
          "CDG-IIk",
          "CDG2K",
          "TMEM165-CDG",
          "TMEM165-congenital disorder of glycosylation",
          "carbohydrate deficient glycoprotein syndrome type IIk",
          "congenital disorder of glycosylation type 2k",
          "congenital disorder of glycosylation type IIk",
          "CDG IIk",
          "TMEM165-CDG (CDG-IIk)",
          "congenital disorder of glycosylation, type IIk"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "TMEM165-CDG is a form of congenital disorders of N-linked glycosylation characterized by a psychomotor delay-dysmorphism (pectus carinatum, dorsolumbar kyphosis and severe sinistroconvex scoliosis, short distal phalanges, genua vara, pedes planovalgi syndrome) with postnatal growth deficiency and major spondylo-, epi-, and metaphyseal skeletal involvement. Additional features include facial dysmorphism (midface hypoplasia, internal strabism of the right eye, low-set ears, moderately high arched palate, small teeth), nephrotic syndrome, cardiac defects, and feeding problems. The disease is caused by mutations in the gene TMEM165 (4q12)."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013870"
    },
    {
      "id": 15070,
      "label": "Steel syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017735",
          "MEDGEN:767508",
          "OMIM:615155",
          "Orphanet:438117",
          "UMLS:C3554594"
        ],
        "synonyms": [
          "bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome",
          "steel syndrome",
          "STLS",
          "dislocated hips and radial heads, carpal coalition, scoliosis, and short stature"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic bone disease characterized by short stature, bilateral congenital hip dislocation, radial head dislocation, carpal coalition, scoliosis, pes cavus, and atlantoaxial subluxation. Dysmorphic facial features include broad forehead, broad nasal bridge, hypertelorism, and mild midface hypoplasia. Association with bilateral sensorineural hearing loss has also been described."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014061"
    },
    {
      "id": 15455,
      "label": "cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16330,
        16918,
        17206,
        19748
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017727",
          "MEDGEN:863379",
          "OMIM:616007",
          "Orphanet:436174",
          "UMLS:C4014942"
        ],
        "synonyms": [
          "CAGSSS",
          "cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0005151",
            "name": "endocrine system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014455"
    },
    {
      "id": 15714,
      "label": "Roifman syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        6778,
        17206,
        24283,
        24802
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0009163",
          "MEDGEN:375801",
          "MESH:C535866",
          "OMIM:300258",
          "OMIM:616651",
          "Orphanet:353298",
          "UMLS:C1846059"
        ],
        "synonyms": [
          "RFMN",
          "Roifman syndrome",
          "spondyloepiphyseal dysplasia, retinal dystrophy, and antibody deficiency",
          "spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome",
          "spondyloepiphseal dysplasia, retinal dystrophy and antibody deficiency"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014722"
    },
    {
      "id": 15740,
      "label": "progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017808",
          "MEDGEN:1800305",
          "OMIM:616723",
          "Orphanet:457395",
          "UMLS:C5568882"
        ],
        "synonyms": [
          "SEMDFA",
          "spondyloepimetaphyseal dysplasia, faden-Alkuraya type",
          "spondyloepimetaphyseal dysplasia, faden-ALKURAYA type",
          "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and intellectual disability, with or without craniosynostosis",
          "spondyloepimetaphyseal dysplasia, progressive, with short stature, Facial Dysmorphism, short fourth metatarsals, and mental retardation, with or without craniosynostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014748"
    },
    {
      "id": 15789,
      "label": "even-plus syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4370,
        16089,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017913",
          "MEDGEN:904613",
          "OMIM:616854",
          "Orphanet:496751",
          "UMLS:C4225180"
        ],
        "synonyms": [
          "EVPLS",
          "epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome",
          "even-plus syndrome",
          "epiphyseal and vertebral dysplasia, microtia, and flat Nose, plus associated malformations"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0014801"
    },
    {
      "id": 16552,
      "label": "Smith-McCort dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060247",
          "GARD:0010620",
          "MEDGEN:375887",
          "MESH:C564589",
          "OMIMPS:607326",
          "Orphanet:178355",
          "SCTID:715862006",
          "UMLS:C1846431",
          "icd11.foundation:1800275830"
        ],
        "synonyms": [
          "Smith McCort dysplasia",
          "Smith-McCort dwarfism"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Smith-McCort dysplasia (SMC) is a rare spondylo-epi-metaphyseal dysplasia characterized by the clinical manifestations of coarse facies, short neck, short trunk dwarfism with barrel-shaped chest and rhizomelic limb shortening, as well as specific radiological features (i.e. generalized platyspondyly with double-humped vertebral end plates and iliac crests with a lace-like appearance) and normal intelligence. The clinical and skeletal features are similar to those seen in the allelic disorder Dyggve-Melchior-Clausen syndrome (DMC), but can be distinguished from this syndrome by the absence of intellectual deficiency and microcephaly in SMC."
      },
      "child_count": 2,
      "reference_id": "MONDO:0015799"
    },
    {
      "id": 18527,
      "label": "cono-spondylar dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021750",
          "MEDGEN:1638945",
          "Orphanet:420794",
          "SCTID:766874001",
          "UMLS:C4707860"
        ],
        "synonyms": [
          "short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Cono-spondylar dysplasia is a rare genetic primary bone dysplasia disorder characterized by early-onset severe lumbar kyphosis, marked brachydactyly and irregular, pronounced cone epiphyses of the metacarpals and phalanges. Additional reported features include developmental delay, intellectual disability, hypotonia, epileptic seizures and mild facial dysmorphism (incl. long and thin or square-shaped face, slight mid-face hypoplasia, hypertelorism, epicanthic folds, low-set ears, anteverted nostrils). Radiographic findings also reveal hypoplasia of iliac wings and anterior defect of vertebral bodies."
      },
      "child_count": 0,
      "reference_id": "MONDO:0018490"
    },
    {
      "id": 18701,
      "label": "X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        4427,
        16087,
        17206,
        19709,
        24270
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017815",
          "MEDGEN:1811349",
          "Orphanet:459070",
          "UMLS:C5687848"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018724"
    },
    {
      "id": 19190,
      "label": "Stickler syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        17206,
        19768
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080046",
          "GARD:0010782",
          "ICD9:759.89",
          "MEDGEN:120521",
          "MedDRA:10063402",
          "NCIT:C74984",
          "NORD:1739",
          "OMIMPS:108300",
          "Orphanet:828",
          "SCTID:78675000",
          "UMLS:C0265253",
          "icd11.foundation:246271691"
        ],
        "synonyms": [
          "Stickler syndrome",
          "hereditary progressive arthroophthalmopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Stickler syndrome is an inherited vitreoretinopathy characterized by the association of ocular signs with more or less complete forms of Pierre-Robin sequence, bone disorders, and sensorineural deafness (10% of cases)."
      },
      "child_count": 15,
      "reference_id": "MONDO:0019354"
    },
    {
      "id": 19453,
      "label": "spondyloepiphyseal dysplasia tarda",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112284",
          "GARD:0025144",
          "ICD9:756.9",
          "NORD:1732",
          "Orphanet:93284",
          "SCTID:51952004"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondyloepiphyseal dysplasia tarda (SEDT) is characterized by disproportionate short stature in adolescence or adulthood, associated with a short trunk and arms and barrel-shaped chest."
      },
      "child_count": 6,
      "reference_id": "MONDO:0019667"
    },
    {
      "id": 22385,
      "label": "spondyloepiphyseal dysplasia, kondo-fu type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112283",
          "GARD:0025729",
          "MEDGEN:1683128",
          "NORD:2027",
          "OMIM:618392",
          "UMLS:C5193071"
        ],
        "synonyms": [
          "SEDKF",
          "SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE",
          "Sed With Elevated Blood Lysosomal Enzymes"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032721"
    },
    {
      "id": 22491,
      "label": "spondyloepiphyseal dysplasia, nishimura type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112288",
          "GARD:0025756",
          "MEDGEN:930816",
          "OMIM:618618",
          "UMLS:C4305147",
          "icd11.foundation:523290419"
        ],
        "synonyms": [
          "SEDN",
          "SPONDYLOEPIPHYSEAL DYSPLASIA, NISHIMURA TYPE"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032835"
    },
    {
      "id": 23315,
      "label": "immunoskeletal dysplasia with neurodevelopmental abnormalities",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025889",
          "MEDGEN:1381460",
          "OMIM:617425",
          "UMLS:C4479452"
        ],
        "synonyms": [
          "IMMUNOSKELETAL dysplasia with neurodevelopmental abnormalities",
          "ISDNA"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0044312"
    },
    {
      "id": 24324,
      "label": "COL2A1-related spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        17206,
        24235
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 12,
      "reference_id": "MONDO:0100602"
    },
    {
      "id": 25137,
      "label": "MIR140-related spondyloepiphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022495",
          "MEDGEN:1842455",
          "Orphanet:623695",
          "UMLS:C5680411"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850099"
    },
    {
      "id": 26042,
      "label": "MGP-related spondyloepiphyseal dysplasia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027174",
          "MEDGEN:1864357",
          "Orphanet:664377",
          "UMLS:C5925072"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0971093"
    },
    {
      "id": 26337,
      "label": "spondyloepiphyseal dysplasia, Holling type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        17206
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "OMIM:621345"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0979899"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}