{
  "id": 8908,
  "label": "Ehlers-Danlos syndrome, spondylodysplastic type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007526",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 3,
  "parents": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6795,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019900",
          "MEDGEN:1826093",
          "Orphanet:139009",
          "UMLS:C5680623"
        ]
      },
      "child_count": 114,
      "reference_id": "MONDO:0015327"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        6795
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:655",
          "GARD:0022508",
          "MEDGEN:6323",
          "MESH:D008661",
          "MedDRA:10058097",
          "MedDRA:10062018",
          "NANDO:2100159",
          "NCIT:C34816",
          "Orphanet:68367",
          "SCTID:86095007",
          "UMLS:C0025521",
          "icd11.foundation:733825440"
        ],
        "synonyms": [
          "congenital metabolic disorder",
          "congenital metabolism disorder",
          "hereditary metabolic disease",
          "inborn disorders of metabolism",
          "inborn error of metabolism",
          "inborn errors of metabolism",
          "inborn metabolic disorder",
          "inherited disorder of metabolism",
          "inherited disorders of metabolism",
          "inherited metabolic disorder",
          "rare inborn errors of metabolism",
          "rare inherited metabolic disorder",
          "rare metabolic disease"
        ],
        "definition": "An inherited disorder resulting from an enzyme defect in biochemical and metabolic pathways affecting proteins, fats, carbohydrates metabolism or organelle function."
      },
      "child_count": 186,
      "reference_id": "MONDO:0019052"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        4370,
        5714,
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:13359",
          "GARD:0006322",
          "ICD10CM:Q79.6",
          "ICD9:756.83",
          "MEDGEN:41720",
          "MESH:D004535",
          "MedDRA:10014316",
          "NANDO:1200645",
          "NANDO:2200607",
          "NCIT:C34568",
          "NORD:1080",
          "OMIMPS:130000",
          "Orphanet:98249",
          "SCTID:398114001",
          "UMLS:C0013720",
          "icd11.foundation:1122707206"
        ],
        "synonyms": [
          "Danlos Disease, Ehlers",
          "Danlos disease",
          "Disease, Ehlers Danlos",
          "Disease, Ehlers-Danlos",
          "Dystrophia mesodermalis congenita",
          "EDS",
          "Ehler Danlos Syndrome",
          "Ehlers Danlos Disease",
          "Ehlers Danlos Syndrome",
          "Ehlers Danlos syndrome",
          "Ehlers-Danlos Disease",
          "Ehlers-Danlos syndromes",
          "Fibrodysplasia elastica generalisata",
          "Hereditary collagen dysplasia",
          "Meekeren-Ehlers-Danlos syndrome",
          "Syndrome, Ehlers-Danlos",
          "danlos ehlers syndrome",
          "elastic skin",
          "skin elastic",
          "ED syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "The Ehlers–Danlos syndromes (EDS) are a clinically and genetically heterogeneous group of heritable connective tissue disorders (HCTDs) characterized by joint hypermobility, skin hyperextensibility, and tissue fragility."
      },
      "child_count": 75,
      "reference_id": "MONDO:0020066"
    }
  ],
  "children": [
    {
      "id": 13913,
      "label": "Ehlers-Danlos syndrome, spondylocheirodysplastic type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8908,
        17206
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012873"
    },
    {
      "id": 15146,
      "label": "Ehlers-Danlos syndrome, spondylodysplastic type, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8908,
        24309
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0014139"
    },
    {
      "id": 20091,
      "label": "Ehlers-Danlos syndrome, spondylodysplastic type, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8908,
        24803
      ],
      "type_id": 0,
      "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"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0020682"
    }
  ],
  "roots": [
    {
      "id": 16198,
      "label": "developmental anomaly of metabolic origin"
    },
    {
      "id": 18954,
      "label": "inborn errors of metabolism"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}