{
  "id": 15242,
  "label": "Ehlers-Danlos syndrome, musculocontractural type 2",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0014236",
  "properties": {
    "xrefs": [
      "DOID:0080735",
      "DOID:0080737",
      "GARD:0015982",
      "MEDGEN:816175",
      "OMIM:615539",
      "UMLS:C3809845"
    ],
    "synonyms": [
      "DSE Ehlers-Danlos syndrome, musculocontractural type",
      "Ehlers-Danlos syndrome, musculocontractural type 2",
      "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE",
      "EDSMC2",
      "Ehlers-Danlos syndrome, musculocontractural type, 2"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0004995",
        "name": "cardiovascular disorder"
      }
    ],
    "definition": "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 12264,
      "label": "Ehlers-Danlos syndrome, musculocontractural type",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        16168,
        16198,
        19660,
        19720,
        24272
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0008486",
          "MEDGEN:356497",
          "MESH:C000600608",
          "NANDO:1200652",
          "NANDO:2201262",
          "Orphanet:2953",
          "SCTID:720860004",
          "UMLS:C1866294"
        ],
        "synonyms": [
          "ATCS",
          "CHST14-related EDS",
          "CHST14-related Ehlers-Danlos syndrome",
          "D4ST1-deficient EDS",
          "D4ST1-deficient Ehlers-Danlos syndrome",
          "EDS, Kosho type",
          "EDS, arthrogryposic type",
          "EDS, musculocontractural type",
          "Ehlers-Danlos syndrome, Kosho type",
          "Ehlers-Danlos syndrome, arthrogryposic type",
          "MCEDS",
          "adducted thumb-clubfoot syndrome",
          "adducted thumbs-arthrogryposis syndrome, Dundar type",
          "musculocontractural Ehlers-Danlos syndrome",
          "Dundar syndrome",
          "EDS6B, formerly",
          "EDSMC",
          "EDSMC1",
          "EDSmc",
          "Ehlers-Danlos syndrome, musculocontractural type 1",
          "Ehlers-Danlos syndrome, musculocontractural type, 1",
          "Ehlers-Danlos syndrome, type VIB, formerly",
          "Ehlers-Danlos syndrome, type Vib",
          "Ehlers-Danlos syndrome, type Vib, formerly",
          "adducted thumb clubfoot syndrome",
          "adducted thumb, clubfoot, and progressive joint and skin laxity syndrome",
          "adducted thumb-club foot syndrome",
          "adducted thumbs Dundar type",
          "arthrogryposis, distal, with peculiar facies and hydronephrosis",
          "autosomal recessive adducted thumb-club foot syndrome",
          "musculocontractural EDS"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          },
          {
            "ref": "MONDO:0004995",
            "name": "cardiovascular disorder"
          }
        ],
        "definition": "Ehlers-Danlos syndrome, musculocontractural type is a congenital form of Ehlers-Danlos syndrome characterized by distinct craniofacial features, multiple contractures, progressive joint and skin laxity, adduction-flexion contractures of the thumbs, talipes equinovarus, bruisability and multisystem fragility-related manifestations."
      },
      "child_count": 10,
      "reference_id": "MONDO:0011142"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 12264,
      "label": "Ehlers-Danlos syndrome, musculocontractural type"
    }
  ]
}