{
  "id": 20091,
  "label": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0020682",
  "properties": {
    "xrefs": [
      "DOID:0080738",
      "GARD:0025209",
      "MEDGEN:1646889",
      "OMIM:130070",
      "UMLS:C4552003"
    ],
    "synonyms": [
      "EDSSPD1",
      "Ehlers-Danlos syndrome with Short stature and Limb anomalies",
      "Ehlers-Danlos syndrome, progeroid type 1",
      "Ehlers-Danlos syndrome, progeroid type, 1",
      "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, 1, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ]
  },
  "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": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density.",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18933
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0026427",
          "HP:0004349"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A skeletal dysplasia characterized by osteogenesis imperfecta and decreased bone density."
      },
      "child_count": 34,
      "reference_id": "MONDO:0800064"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8908,
      "label": "Ehlers-Danlos syndrome, spondylodysplastic type"
    },
    {
      "id": 24803,
      "label": "osteogenesis imperfecta and a reduction of bone mineral density."
    }
  ]
}