{
  "id": 4168,
  "label": "autosomal recessive Ehlers-Danlos syndrome, vascular type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0002014",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 7611,
      "label": "autosomal recessive disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050737",
          "EFO:1000017",
          "ICD9:758.5",
          "MEDGEN:539209",
          "SCTID:85995004",
          "UMLS:C0265388"
        ],
        "synonyms": [
          "autosomal recessive disease or disorder",
          "autosomal recessive hereditary disease",
          "autosomal recessive hereditary disorder",
          "autosomal recessive inherited disease",
          "autosomal recessive inherited disorder",
          "disease or disorder, autosomal recessive",
          "disease, autosomal recessive",
          "recessive hereditary disorder (autosomal)"
        ],
        "definition": "Autosomal recessive form of disease."
      },
      "child_count": 219,
      "reference_id": "MONDO:0006025"
    },
    {
      "id": 17633,
      "label": "Ehlers-Danlos syndrome, vascular type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7065,
        19720
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017314"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 7611,
      "label": "autosomal recessive disease"
    },
    {
      "id": 17633,
      "label": "Ehlers-Danlos syndrome, vascular type"
    }
  ]
}