{
  "id": 14817,
  "label": "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013800",
  "properties": {
    "xrefs": [
      "GARD:0017361",
      "MEDGEN:482790",
      "OMIM:614557",
      "Orphanet:300179",
      "SCTID:720859009",
      "UMLS:C3281160"
    ],
    "synonyms": [
      "EDS with progressive kyphoscoliosis, myopathy, and deafness",
      "EDS with progressive kyphoscoliosis, myopathy, and hearing loss",
      "EDS, kyphoscoliotic and hearing loss type",
      "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and deafness",
      "Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss",
      "Ehlers-Danlos syndrome, kyphoscoliotic and deafness type",
      "Ehlers-Danlos syndrome, kyphoscoliotic and hearing loss type",
      "Ehlers-Danlos syndrome, kyphoscoliotic type, 2",
      "EDSKMH",
      "EDSKSCL2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A form of Ehlers-Danlos syndrome, characterized by severe generalized hypotonia at birth with severe early-onset kyphoscolosis along with joint hypermobility (without contractures) leading to recurrent dislocations, and sensorineural hearing impairment."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": [],
  "roots": [
    {
      "id": 19720,
      "label": "Ehlers-Danlos syndrome"
    }
  ]
}