{
  "id": 15146,
  "label": "Ehlers-Danlos syndrome, spondylodysplastic type, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014139",
  "properties": {
    "xrefs": [
      "GARD:0015947",
      "MEDGEN:815540",
      "OMIM:615349",
      "Orphanet:536467",
      "UMLS:C3809210"
    ],
    "synonyms": [
      "B3GALT6 Ehlers-Danlos syndrome progeroid type",
      "B3GALT6-related spEDS",
      "B3GALT6-related spondylodysplastic EDS",
      "Beta3GalT6-deficient EDS",
      "EDSP2",
      "EDSSPD2",
      "Ehlers-Danlos syndrome progeroid type 2",
      "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6",
      "Ehlers-Danlos syndrome, progeroid type, 2",
      "Ehlers-Danlos syndrome, spondylodysplastic type, 2",
      "spEDS-B3GALT6",
      "Ehlers-Danlos syndrome, progeroid type, 2, formerly"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Any Ehlers-Danlos syndrome, spondylodysplastic type in which the cause of the disease is a mutation in the B3GALT6 gene."
  },
  "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": 24309,
      "label": "B3GALT6-congenital disorder of glycosylation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0027280"
        ],
        "synonyms": [
          "B3GALT6-CDG",
          "B3GALT6-congenital disorder of glycosylation",
          "B3GALT6-related congenital disorder of glycosylation"
        ],
        "definition": "Any congenital disorder of glycosylation in which the cause of the disease is a mutation in B3GALT6."
      },
      "child_count": 3,
      "reference_id": "MONDO:0100586"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 8908,
      "label": "Ehlers-Danlos syndrome, spondylodysplastic type"
    },
    {
      "id": 24309,
      "label": "B3GALT6-congenital disorder of glycosylation"
    }
  ]
}