{
  "id": 19472,
  "label": "spondylodysplastic dysplasia",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0019694",
  "properties": {
    "xrefs": [
      "GARD:0019193",
      "MEDGEN:1843363",
      "Orphanet:93434",
      "UMLS:C4736216",
      "icd11.foundation:329165933"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ]
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 9,
  "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": 9230,
      "label": "platyspondylic dysplasia, Torrance type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19472,
        20997
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0111508",
          "GARD:0004382",
          "MEDGEN:331974",
          "MESH:C563627",
          "NANDO:2201347",
          "OMIM:151210",
          "Orphanet:85166",
          "UMLS:C1835437",
          "icd11.foundation:263213426"
        ],
        "synonyms": [
          "PLSD-T",
          "Platyspondylic dysplasia, Torrance-Luton type",
          "Platyspondylic lethal skeletal dysplasia, Torrance type",
          "platyspondylic dysplasia, Torrance type",
          "platyspondylic skeletal dysplasia, Torrance type",
          "PLSDT",
          "Platyspondylic lethal skeletal dysplasia Torrance type",
          "Platyspondylic lethal skeletal dysplasia, Luton type",
          "lethal short-limbed Platyspondylic dwarfism Torrance type",
          "lethal short-limbed Platyspondylic dwarfism, Torrance type",
          "thanatophoric dysplasia Torrance variant",
          "thanatophoric dysplasia, Luton variant",
          "thanatophoric dysplasia, Torrance variant"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0003900",
            "name": "connective tissue disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0007895"
    },
    {
      "id": 11281,
      "label": "spondylocarpotarsal synostosis syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7153,
        19470,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0090116",
          "GARD:0004974",
          "ICD9:758.89",
          "MEDGEN:341339",
          "MESH:C535780",
          "OMIM:272460",
          "Orphanet:3275",
          "SCTID:702351004",
          "UMLS:C1848934"
        ],
        "synonyms": [
          "SCT",
          "Synspondylism",
          "spondylocarpotarsal syndrome",
          "spondylocarpotarsal synostosis",
          "spondylocarpotarsal synostosis syndrome",
          "vertebral fusion with carpal coalition",
          "Synspondylism congenital",
          "Synspondylism, congenital",
          "scoliosis, congenital with unilateral unsegmented bar",
          "scoliosis, congenital, with unilateral unsegmented Bar"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylocarpotarsal synostosis (SCT) syndrome is a skeletal dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an undersized trunk and a disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis, with club feet and a mild facial dysmorphism."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010094"
    },
    {
      "id": 11813,
      "label": "skeletal dysplasia-intellectual disability syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19472,
        19742
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0003520",
          "MEDGEN:326949",
          "MESH:C564101",
          "OMIM:309620",
          "Orphanet:1436",
          "SCTID:722478008",
          "UMLS:C1839729"
        ],
        "synonyms": [
          "Christian syndrome",
          "mental retardation-skeletal dysplasia",
          "MRSD",
          "X-linked skeletal dysplasia-intellectual disability syndrome",
          "intellectual disability skeletal dysplasia abducens palsy",
          "intellectual disability, skeletal dysplasia, and abducens palsy",
          "mental retardation skeletal dysplasia abducens palsy",
          "mental retardation, skeletal dysplasia, and abducens palsy"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0005071",
            "name": "nervous system disorder"
          }
        ],
        "definition": "Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010668"
    },
    {
      "id": 11938,
      "label": "spondylocamptodactyly syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0004972",
          "MEDGEN:325510",
          "MESH:C535779",
          "OMIM:600000",
          "Orphanet:3180",
          "SCTID:716231009",
          "UMLS:C1838781"
        ],
        "synonyms": [
          "camptodactyly with cervical platyspondyly",
          "spondylo camptodactyly syndrome",
          "spondylocamptodactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Spondylo-camptodactyly syndrome is characterized by camptodactyly, flattened cervical vertebral bodies and variable degrees of thoracic scoliosis."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010801"
    },
    {
      "id": 13019,
      "label": "diaphanospondylodysostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0016674",
          "MEDGEN:374993",
          "MESH:C564305",
          "OMIM:608022",
          "Orphanet:66637",
          "SCTID:721094006",
          "UMLS:C1842691",
          "icd11.foundation:508093071"
        ],
        "synonyms": [
          "diaphanospondylodysostosis",
          "vertebral ossification, defect in, with nephrogenic rests"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Diaphanospondylodysostosis is characterized by absent ossification of the vertebral bodies and sacrum associated with variable anomalies. It has been described in less than ten patients from different families. Manifestations include a short neck, a short wide thorax, a reduced number of ribs, a narrow pelvis, and inconstant anomalies such as myelomeningocele, cystic kidneys with nephrogenic rests, and cleft palate."
      },
      "child_count": 0,
      "reference_id": "MONDO:0011946"
    },
    {
      "id": 16146,
      "label": "brachyolmia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050690",
          "GARD:0010903",
          "ICD9:756.19",
          "MEDGEN:96584",
          "MESH:C537098",
          "Orphanet:1293",
          "SCTID:254088006",
          "UMLS:C0432228",
          "icd11.foundation:1255949169"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones."
      },
      "child_count": 6,
      "reference_id": "MONDO:0015262"
    },
    {
      "id": 19438,
      "label": "achondrogenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080043",
          "GARD:0002882",
          "ICD10CM:Q77.0",
          "MEDGEN:84",
          "MESH:C579878",
          "MedDRA:10066122",
          "NCIT:C84527",
          "NORD:710",
          "OMIMPS:200600",
          "Orphanet:932",
          "SCTID:2391001",
          "UMLS:C0001079",
          "icd11.foundation:103965243"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Achondrogenesis describes a rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2."
      },
      "child_count": 10,
      "reference_id": "MONDO:0019648"
    },
    {
      "id": 22738,
      "label": "skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        16087,
        16471,
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022070",
          "MEDGEN:1799322",
          "Orphanet:508533",
          "UMLS:C5567899"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0005046",
            "name": "immune system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0033682"
    },
    {
      "id": 24805,
      "label": "severe spondylodysplastic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19472
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026429"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An instance of spondylodysplastic dysplasia that has a high degree of severity."
      },
      "child_count": 5,
      "reference_id": "MONDO:0800080"
    }
  ],
  "roots": [
    {
      "id": 18360,
      "label": "skeletal dysplasia"
    }
  ]
}