{
  "id": 24235,
  "label": "spondyloepimetaphyseal dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0100510",
  "properties": {
    "xrefs": [
      "DOID:0080027",
      "GARD:0026258",
      "MEDGEN:609408",
      "SCTID:254062008",
      "UMLS:C0432211"
    ],
    "synonyms": [
      "SEMD",
      "spondylo-epi-(meta)-physeal dysplasia"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "An osteochondrodysplasia that results in abnormalities of bone growth in the vertebral column, epiphysis, and metaphysis."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 23,
  "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": 9761,
      "label": "spondyloepimetaphyseal dysplasia-hypotrichosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010101",
          "MEDGEN:357120",
          "MESH:C535783",
          "OMIM:183849",
          "Orphanet:168443",
          "UMLS:C1866728"
        ],
        "synonyms": [
          "Whyte Petersen McAlister syndrome",
          "Whyte syndrome",
          "spondyloepimetaphyseal dysplasia with hypotrichosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare primary bone dysplasia disorder characterized by congenital hypotrichosis associated with rhizomelic short stature (more pronounced in upper limbs than lower limbs), limited hip abduction and mild genu varum. Flared and irregular metaphyses, delayed and irregular epiphiseal ossification and pear-shaped vertebral bodies are characteristic radiologic findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008469"
    },
    {
      "id": 9765,
      "label": "spondyloepimetaphyseal dysplasia, Maroteaux type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18364,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111553",
          "GARD:0000994",
          "MEDGEN:463613",
          "OMIM:184095",
          "Orphanet:263482",
          "SCTID:719204007",
          "UMLS:C3159322"
        ],
        "synonyms": [
          "SED, Maroteaux type",
          "pseudo-Morquio syndrome type 2",
          "spondyloepimetaphyseal dysplasia, Maroteaux type",
          "spondyloepiphyseal dysplasia Maroteaux type",
          "spondyloepiphyseal dysplasia, Maroteaux type",
          "brachyolmia Maroteaux type",
          "pseudo-Morquio syndrome, type 2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A very rare type of spondyloepiphyseal dysplasia described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008473"
    },
    {
      "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": 11257,
      "label": "spondyloepimetaphyseal dysplasia, sponastrime type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:5684",
          "GARD:0004970",
          "ICD9:756.9",
          "MEDGEN:266247",
          "MESH:C535786",
          "NCIT:C129031",
          "OMIM:271510",
          "Orphanet:93357",
          "SCTID:389161008",
          "UMLS:C1300260"
        ],
        "synonyms": [
          "sponastrime dysplasia",
          "spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia",
          "spondylar and nasal changes with triations of the metaphyses (SPONASTRIME) dysplasia",
          "spondyloepimetaphyseal dysplasia, Sponastrime type",
          "spondyloepimetaphyseal dysplasia, sponastrime type",
          "Sponastrime dysplasia",
          "short limb dwarfism with saddle nose, spinal alterations, and metaphyseal striation",
          "short-limb dwarfism with saddle Nose, spinal alterations, and metaphyseal striation",
          "spondylar and nasal alterations with striated metaphyses",
          "spondyloepimetaphyseal dysplasia Sponastrime type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic disorder characterized by bone marrow failure, spinal abnormalities, saddle nose, and metaphysical striation."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010068"
    },
    {
      "id": 11264,
      "label": "spondyloepimetaphyseal dysplasia, Irapa type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016819",
          "MEDGEN:98476",
          "MESH:C562958",
          "OMIM:271650",
          "Orphanet:93351",
          "SCTID:717330004",
          "UMLS:C0432213",
          "icd11.foundation:1355637988"
        ],
        "synonyms": [
          "SEMD, Irapa type",
          "spondyloepimetaphyseal dysplasia, Irapa type",
          "SEMDIT"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia is characterized by disproportionate short-trunked short stature, pectus carinatum, short arms, short and broad hands, short metatarsals, flat and broad feet, coxa vara, genu valgum, osteoarthritis, arthrosis and moderate-to-serious gait impairment."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010076"
    },
    {
      "id": 11265,
      "label": "spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112196",
          "GARD:0010616",
          "MEDGEN:338595",
          "MESH:C564794",
          "OMIM:271665",
          "Orphanet:93358",
          "UMLS:C1849011"
        ],
        "synonyms": [
          "SMED short limb-hand type",
          "SMED type 2",
          "Smed short limb-abnormal calcification type",
          "Smed, short limb-abnormal calcification type",
          "Smed, short limb-hand type",
          "Smed, type 2",
          "Smed-SL",
          "Smed-SL/Ac",
          "spondyloepimetaphyseal dysplasia - short limb - abnormal calcification",
          "spondylometaepiphyseal dysplasia short limb-abnormal calcification type",
          "spondylometaepiphyseal dysplasia short limb-hand type",
          "spondylometaepiphyseal dysplasia, short limb-abnormal calcification type",
          "spondylometaepiphyseal dysplasia, short limb-hand type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic primary bone dysplasia disorder characterized by disproportionate short stature with shortening of upper and lower limbs, short and broad fingers with short hands, narrowed chest with rib abnormalities and pectus excavatum, abnormal chondral calcifications (incl. larynx, trachea and costal cartilages) and facial dysmorphism (frontal bossing, hypertelorism, prominent eyes, short flat nose, wide nostrils, high-arched palate, long philtrum). Platyspondyly (esp. of cervical spine) and abnormal epiphyses and metaphyses are observed on radiography. Atlantoaxial instability causing spinal compression and recurrent respiratory disease are potential complications that may result lethal."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010077"
    },
    {
      "id": 11448,
      "label": "spondyloepimetaphyseal dysplasia, Bieganski type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004891",
          "MEDGEN:335350",
          "MESH:C536671",
          "MESH:C567065",
          "OMIM:300232",
          "Orphanet:168448",
          "Orphanet:83629",
          "UMLS:C1846148",
          "icd11.foundation:1073330593"
        ],
        "synonyms": [
          "H-SMD",
          "hypomyelination-spondyloepimetaphyseal dysplasia syndrome",
          "leukoencephalopathy-SEMD syndrome",
          "leukoencephalopathy-metaphyseal chondrodysplasia syndrome",
          "spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, X-linked recessive",
          "LKMCD",
          "SEMD X-linked with mental deterioration",
          "SEMD, X-linked, with mental deterioration",
          "leukoencephalopathy with metaphyseal chondrodysplasia",
          "spondyloepimetaphyseal dysplasia X-linked with mental deterioration",
          "spondyloepimetaphyseal dysplasia, X-linked, with mental deterioration"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare genetic neurological disorder characterized by the association of hypomyelinating leukodystrophy with spondylometaphyseal dysplasia. Patients present in infancy with absent or delayed ability to walk independently, slowly progressive motor deterioration, spasticity, ataxia, proximal weakness, and joint contractures. Additional manifestations include mild cognitive impairment, short stature, scoliosis, enlarged and deformed joints, dysarthria, nystagmus, visual defects, and mildly dysmorphic features, among others. Mode of inheritance is X-linked recessive."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010275"
    },
    {
      "id": 12248,
      "label": "spondyloepimetaphyseal dysplasia-abnormal dentition syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017030",
          "MEDGEN:356550",
          "MESH:C566644",
          "OMIM:601668",
          "Orphanet:168451",
          "UMLS:C1866507"
        ],
        "synonyms": [
          "SEMDAD",
          "spondyloepimetaphyseal dysplasia with abnormal dentition"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare primary bone dysplasia disorder characterized by the association of dental anomalies (oligodontia with pointed incisors) and generalized platyspondyly with epiphyseal and metaphyseal involvement. Thin tapering fingers and accentuated palmar creases are additional features."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011124"
    },
    {
      "id": 12320,
      "label": "spondyloepimetaphyseal dysplasia, Missouri type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080030",
          "GARD:0010618",
          "MEDGEN:355563",
          "OMIM:602111",
          "Orphanet:93356",
          "SCTID:719171005",
          "UMLS:C1865832",
          "icd11.foundation:1593289281"
        ],
        "synonyms": [
          "SEMD type 2",
          "SEMD, Missouri type",
          "spondyloepimetaphyseal dysplasia type 2",
          "spondyloepimetaphyseal dysplasia, Missouri type",
          "Missouri type of spondyloepimetaphyseal dysplasia",
          "SEMD Missouri type",
          "metaphyseal anadysplasia 1",
          "spondyloepimetaphyseal dysplasia Missouri type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011198"
    },
    {
      "id": 12372,
      "label": "spondyloepimetaphyseal dysplasia, Shohat type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004980",
          "MEDGEN:400703",
          "MESH:C566523",
          "OMIM:602557",
          "Orphanet:93352",
          "SCTID:719201004",
          "UMLS:C1865185",
          "icd11.foundation:1389783101"
        ],
        "synonyms": [
          "SEMD, Shohat type",
          "spondyloepimetaphyseal dysplasia, Shohat type",
          "SEMD Shohat type",
          "SEMDSH",
          "spondyloepimetaphyseal dysplasia Shohat type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia characterized by severely disproportionate short stature, short limbs, small chest, short neck, thin lips, severe lumbar lordosis, marked genu varum, joint laxity, distended abdomen, mild hepatomegaly and splenomegaly."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011252"
    },
    {
      "id": 13174,
      "label": "spondyloepimetaphyseal dysplasia, matrilin-3 type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010611",
          "MEDGEN:325181",
          "MESH:C563869",
          "OMIM:608728",
          "Orphanet:156728",
          "SCTID:719166003",
          "UMLS:C1837481",
          "icd11.foundation:1983063881"
        ],
        "synonyms": [
          "SEMD, MATN3-related",
          "SEMD, matrilin-3 type",
          "spondyloepimetaphyseal dysplasia, Borochowitz-Cormier-Daire type",
          "SEMD MATN3-related",
          "spondyloepimetaphyseal dysplasia matrilin-3 related",
          "spondyloepimetaphyseal dysplasia matrilin-3 type",
          "spondyloepimetaphyseal dysplasia, matrilin-3 related"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia characterized by disproportionate early-onset dwarfism, bowing of the lower limbs, short, wide and stocky long bones with severe epiphyseal and metaphyseal changes, lumbar lordosis, hypoplastic iliac bones, flat ovoid vertebral bodies and normal hands."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012108"
    },
    {
      "id": 13544,
      "label": "spondyloepimetaphyseal dysplasia, Genevieve type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080576",
          "GARD:0010057",
          "MEDGEN:355314",
          "MESH:C535785",
          "OMIM:610442",
          "Orphanet:168454",
          "UMLS:C1864872",
          "icd11.foundation:1383217537"
        ],
        "synonyms": [
          "SEMD, Geneviève type",
          "SEMDG",
          "spondyloepimetaphyseal dysplasia, Camera-Genevieve type",
          "spondyloepimetaphyseal dysplasia, Genevieve type",
          "Nans deficiency",
          "SEMD Genevieve type",
          "SEMD, Genevieve type",
          "spondyloepimetaphyseal dysplasia Genevieve type",
          "spondyloepimetaphyseal dysplasia, Geneviève type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare primary bone dysplasia characterized by severe developmental delay and skeletal dysplasia (including short stature, premature carpal ossification, platyspondyly, longitudinal metaphyseal striations, and small epiphyses), as well as moderate to severe intellectual disability and facial dysmorphism, including prominent forehead, mild synophrys, depressed nasal bridge, prominent bulbous nasal tip and full lips."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012495"
    },
    {
      "id": 14053,
      "label": "spondyloepimetaphyseal dysplasia, aggrecan type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235,
        29322
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010513",
          "MEDGEN:411237",
          "MESH:C567558",
          "OMIM:612813",
          "Orphanet:171866",
          "SCTID:719165004",
          "UMLS:C2748544",
          "icd11.foundation:1133152894"
        ],
        "synonyms": [
          "SEMD, aggrecan type",
          "spondyloepimetaphyseal dysplasia, aggrecan type",
          "SEMDAG"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia caused by biallelic variation in ACAN gene, characterized by severe short stature, facial dysmorphism and characteristic radiographic findings."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013014"
    },
    {
      "id": 14269,
      "label": "spondyloepimetaphyseal dysplasia, Handigodu type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0010741",
          "MEDGEN:461895",
          "OMIM:613343",
          "Orphanet:99642",
          "UMLS:C3150545",
          "icd11.foundation:2048058677"
        ],
        "synonyms": [
          "spondyloepimetaphyseal dysplasia, Handigodu type",
          "Handigodu JOINT disease",
          "Hjd"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A rare, genetic, primary bone dysplasia characterized by three distinct phenotypes, namely: 1) patients of average height with painful, osteoarthritic changes of the hip joints and no spinal abnormalities, 2) short-statured patients with predominantly truncal shortening, arm span exceeding height, dyspalstic changes of hips and varying degrees of platyspondyly, and 3) patients with dwarfism, various associated skeletal abnormalities (particularly of the knees and hands) and severe epiphyseal dysplasia (of hips, knees, hands, wrists) associated with significant platyspondyly. Most patients cannot walk long distances, and many have decreased joint spaces and sclerotic and cystic changes on imaging."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013233"
    },
    {
      "id": 18375,
      "label": "spondyloepimetaphyseal dysplasia, Isidor type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021586",
          "MEDGEN:1676518",
          "Orphanet:370015",
          "UMLS:C5190629"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0018254"
    },
    {
      "id": 19452,
      "label": "spondyloepimetaphyseal dysplasia, PAPSS2 type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2777,
        18954,
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050812",
          "GARD:0016813",
          "MEDGEN:440564",
          "OMIM:612847",
          "Orphanet:93282",
          "SCTID:719172003",
          "UMLS:C2748516"
        ],
        "synonyms": [
          "brachyolmia 4 with mild epiphyseal and metaphyseal changes",
          "spondyloepimetaphyseal dysplasia, Pakistani type",
          "BCYM4",
          "SEMD, Pakistani type",
          "brachyolmia type 4 with mild epiphyseal and metaphyseal changes",
          "spondylodysplasia and premature pubarche"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A spondyloepimetaphyseal dysplasia characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019666"
    },
    {
      "id": 19461,
      "label": "spondyloepimetaphyseal dysplasia with joint laxity",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0112197",
          "GARD:0004982",
          "ICD9:719.80",
          "ICD9:756.9",
          "MEDGEN:98148",
          "MESH:C562968",
          "OMIMPS:271640",
          "Orphanet:93359",
          "SCTID:254100000",
          "UMLS:C0432243"
        ],
        "synonyms": [
          "SEMD-JL",
          "SEMDJL",
          "spondyloepimetaphyseal dysplasia with joint laxity",
          "SEMDJL1",
          "spondyloepimetaphyseal dysplasia with joint laxity type 1",
          "spondyloepimetaphyseal dysplasia with joint laxity, Beighton type",
          "spondyloepimetaphyseal dysplasia joint laxity"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A form of skeletal dysplasia characterized by severe dwarfism, generalized articular hypermobility, and progressive spinal malalignment."
      },
      "child_count": 3,
      "reference_id": "MONDO:0019675"
    },
    {
      "id": 22262,
      "label": "spondyloepimetaphyseal dysplasia, Krakow type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0025705",
          "MEDGEN:1648323",
          "OMIM:618162",
          "UMLS:C4748455"
        ],
        "synonyms": [
          "Immunoosseous Dysplasia, Krakow Type",
          "SEMDK",
          "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, KRAKOW TYPE"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032571"
    },
    {
      "id": 22537,
      "label": "spondyloepimetaphyseal dysplasia, Isidor-Toutain type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027137",
          "MEDGEN:1684771",
          "OMIM:618728",
          "UMLS:C5231478"
        ],
        "synonyms": [
          "SEMDIST",
          "SPONDYLOEPIMETAPHYSEAL DYSPLASIA, ISIDOR-TOUTAIN TYPE"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0032885"
    },
    {
      "id": 23730,
      "label": "spondyloepimetaphyseal dysplasia, di rocco type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026004",
          "MEDGEN:1646454",
          "OMIM:617974",
          "UMLS:C4693799"
        ],
        "synonyms": [
          "SEMDDR",
          "spondyloepimetaphyseal dysplasia, Di Rocco type"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0060702"
    },
    {
      "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": 25795,
      "label": "spondyloepimetaphyseal dysplasia, Guo-Campeau type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026907",
          "MEDGEN:1844202",
          "OMIM:620663",
          "UMLS:C5882737"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0958006"
    },
    {
      "id": 26199,
      "label": "spondyloepimetaphyseal dysplasia, Li-Shao-Li type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        24235
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0051046",
          "GARD:0027434",
          "MEDGEN:1876456",
          "OMIM:621099",
          "UMLS:C6012697"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0976230"
    }
  ],
  "roots": [
    {
      "id": 7171,
      "label": "osteochondrodysplasia"
    }
  ]
}