{
  "id": 8904,
  "label": "Ehlers-Danlos syndrome, classic type",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0007522",
  "properties": {
    "xrefs": [
      "GARD:0002088",
      "MEDGEN:909864",
      "NANDO:1200646",
      "NANDO:2201256",
      "Orphanet:287",
      "SCTID:715318006",
      "UMLS:C4225429"
    ],
    "synonyms": [
      "EDS, classic type",
      "Ehlers-Danlos syndrome classic type",
      "Ehlers-Danlos syndrome, classic type",
      "EDS I",
      "EDS I, formerly",
      "EDS II",
      "EDS II, formerly",
      "Ehlers Danlos syndrome, mild classic type",
      "Ehlers Danlos syndrome, mild classic type, formerly",
      "Ehlers Danlos syndrome, mitis type",
      "Ehlers Danlos syndrome, mitis type, formerly",
      "Ehlers-Danlos syndrome classical type",
      "Ehlers-Danlos syndrome type 1 (formerly)",
      "Ehlers-Danlos syndrome type 2",
      "Ehlers-Danlos syndrome type 2 (formerly)",
      "Ehlers-Danlos syndrome, gravis type",
      "Ehlers-Danlos syndrome, gravis type, formerly",
      "Ehlers-Danlos syndrome, severe classic type",
      "Ehlers-Danlos syndrome, severe classic type, formerly",
      "Ehlers-Danlos syndrome, type I",
      "Ehlers-Danlos syndrome, type I, formerly",
      "Ehlers-Danlos syndrome, type II",
      "Ehlers-Danlos syndrome, type II, formerly",
      "classic Ehlers-Danlos syndrome",
      "classical Ehlers-Danlos syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Ehlers-Danlos syndrome, classic type (cEDS) is a form of Ehlers-Danlos syndrome that affects the connective tissue and is characterized by skin hyperextensibility, widened atrophic scars and joint hypermobility."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 2,
  "parents": [
    {
      "id": 2903,
      "label": "autosomal dominant disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050736",
          "ICD9:758.5",
          "MEDGEN:539206",
          "SCTID:11164009",
          "UMLS:C0265385"
        ],
        "synonyms": [
          "autosomal dominant disease or disorder",
          "autosomal dominant hereditary disorder",
          "autosomal dominant inherited disorder",
          "disease or disorder, autosomal dominant",
          "disease, autosomal dominant"
        ],
        "definition": "Autosomal dominant form of disease."
      },
      "child_count": 192,
      "reference_id": "MONDO:0000426"
    },
    {
      "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": 19372,
      "label": "Ehlers-Danlos syndrome, classic type, 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14720",
          "GARD:0025140",
          "MEDGEN:78660",
          "MESH:C536194",
          "NCIT:C125696",
          "OMIM:130000",
          "Orphanet:90309",
          "SCTID:83470009",
          "UMLS:C0268335"
        ],
        "synonyms": [
          "EDS I",
          "EDSCL1",
          "Ehlers-Danlos syndrome, classic type, 1",
          "Ehlers-Danlos syndrome, type I"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A1 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019567"
    },
    {
      "id": 19373,
      "label": "Ehlers-Danlos syndrome, classic type, 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        8904
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0080726",
          "GARD:0025141",
          "MEDGEN:120628",
          "MESH:C536195",
          "NCIT:C125697",
          "OMIM:130010",
          "Orphanet:90318",
          "UMLS:C0268336"
        ],
        "synonyms": [
          "EDS II",
          "EDSCL2",
          "Ehlers-Danlos syndrome, classic type, 2",
          "EDS II, formerly",
          "Ehlers Danlos syndrome, mild Classic type",
          "Ehlers Danlos syndrome, mild Classic type, formerly",
          "Ehlers Danlos syndrome, mitis type",
          "Ehlers Danlos syndrome, mitis type, formerly",
          "Ehlers-Danlos syndrome, type Ii",
          "Ehlers-Danlos syndrome, type Ii, formerly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Ehlers-Danlos syndrome in which the cause of the disease is a mutation in the COL5A2 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0019568"
    }
  ],
  "roots": [
    {
      "id": 2903,
      "label": "autosomal dominant disease"
    },
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}