{
  "id": 13913,
  "label": "Ehlers-Danlos syndrome, spondylocheirodysplastic type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012873",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 8908,
      "label": "Ehlers-Danlos syndrome, spondylodysplastic type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16198,
        18954,
        19720
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050802",
          "GARD:0009991",
          "MESH:C536201",
          "Orphanet:75496",
          "SCTID:720861000"
        ],
        "synonyms": [
          "B4GALT7-CDG",
          "EDS, progeroid type",
          "PDS",
          "defective biosynthesis of proteodermatan sulfate",
          "defective biosynthesis of proteodermatan sulphate",
          "galactosyltransferase I deficiency",
          "EDSSPD1",
          "Ehlers-Danlos syndrome with short stature and limb anomalies",
          "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
          "Pds, defective biosynthesis of",
          "XGPT deficiency",
          "dermatan sulfate proteoglycan",
          "dermatan sulphate proteoglycan",
          "galactosyltransferase 1 deficiency",
          "proteodermatan sulfate, defective biosynthesis of",
          "xylosylprotein 4-beta-galactosyltransferase deficiency",
          "Ehlers-Danlos syndrome, progeroid type",
          "Ehlers-Danlos syndrome, progeroid type (former)",
          "spondylodysplastic Ehlers-Danlos syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars."
      },
      "child_count": 9,
      "reference_id": "MONDO:0007526"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7171
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 44,
      "reference_id": "MONDO:0016761"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8908,
      "label": "Ehlers-Danlos syndrome, spondylodysplastic type"
    },
    {
      "id": 17206,
      "label": "spondyloepiphyseal dysplasia"
    }
  ]
}