{
  "id": 17633,
  "label": "Ehlers-Danlos syndrome, vascular type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017314",
  "properties": {
    "xrefs": [
      "GARD:0002082",
      "MEDGEN:82790",
      "NANDO:1200648",
      "NANDO:2201258",
      "NCIT:C125699",
      "Orphanet:286",
      "SCTID:17025000",
      "UMLS:C0268338",
      "icd11.foundation:1202686415"
    ],
    "synonyms": [
      "EDS IV",
      "EDS type 4",
      "Ehlers-Danlos syndrome type 4",
      "Ehlers-Danlos syndrome type IV",
      "Ehlers-Danlos syndrome, type IV",
      "Ehlers-Danlos syndrome, vascular type",
      "sack-Barabas syndrome",
      "EDS IV (formerly)",
      "EDS type 4 (formerly)",
      "EDS4 (formerly)",
      "Ehlers Danlos syndrome, arterial type",
      "Ehlers Danlos syndrome, ecchymotic type",
      "Ehlers Danlos syndrome, sack-Barabas type",
      "Ehlers-Danlos syndrome type 4 (formerly)",
      "Ehlers-Danlos syndrome type IV (formerly)",
      "vEDS",
      "vascular EDS",
      "vascular Ehlers-Danlos syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Ehlers-Danlos syndrome type IV, also known as the vascular type of Ehlers-Danlos syndrome (EDS), is an inherited connective tissue disorder defined by characteristic facial features (acrogeria) in most patients, translucent skin with highly visible subcutaneous vessels on the trunk and lower back, easy bruising, and severe arterial, digestive and uterine complications, which are rarely, if at all, observed in the other forms of EDS."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 7065,
      "label": "vascular disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        6736
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:178",
          "EFO:0004264",
          "ICD10CM:I00-I99",
          "ICD10CM:I70-I79",
          "ICD9:442.9",
          "MEDGEN:22621",
          "MESH:D014652",
          "NANDO:2100294",
          "NCIT:C35117",
          "SCTID:27550009",
          "UMLS:C0042373"
        ],
        "synonyms": [
          "disease of vasculature",
          "disease or disorder of vasculature",
          "disorder of vasculature",
          "vascular disorder",
          "vasculature disease",
          "vasculature disease or disorder",
          "vasculopathy"
        ],
        "categories": [
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "A general term used to describe any disease affecting blood vessels]. It includes vascular abnormalities caused by degenerative, metabolic and inflammatory conditions, embolic diseases, coagulative disorders, and functional disorders such as posteri or reversible encephalopathy syndrome."
      },
      "child_count": 60,
      "reference_id": "MONDO:0005385"
    },
    {
      "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": 4168,
      "label": "autosomal recessive Ehlers-Danlos syndrome, vascular type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        7611,
        17633
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14759",
          "GARD:0023057",
          "MEDGEN:541287",
          "SCTID:70610001",
          "UMLS:C0268340"
        ],
        "synonyms": [
          "Ehlers-Danlos syndrome, vascular type, autosomal recessive"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "The rare autosomal recessive form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0002014"
    },
    {
      "id": 8906,
      "label": "autosomal dominant Ehlers-Danlos syndrome, vascular type",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        17633
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14756",
          "GARD:0024560",
          "MEDGEN:541286",
          "OMIM:130050",
          "UMLS:C0268339"
        ],
        "synonyms": [
          "EDS 4",
          "Ehlers-Danlos syndrome, vascular type",
          "Ehlers-Danlos syndrome, type IV, autosomal dominant",
          "Ehlers-Danlos syndrome, vascular type, autosomal dominant",
          "autosomal dominant Ehlers-Danlos syndrome, vascular type",
          "EDSVASC",
          "Ehlers-Danlos syndrome, Ecchymotic type",
          "Ehlers-Danlos syndrome, arterial type",
          "Ehlers-Danlos syndrome, sack-Barabas type",
          "autosomal dominant type IV Ehlers-Danlos syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "The autosomal dominant form of the vascular type of Ehlers-Danlos syndrome. vEDS is almost always inherited in an autosomal dominant manner but rare examples of biallelic inheritance have been reported."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007524"
    }
  ],
  "roots": [
    {
      "id": 7065,
      "label": "vascular disorder"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}