{
  "id": 13084,
  "label": "Weill-Marchesani syndrome 2, dominant",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0012013",
  "properties": {
    "xrefs": [
      "GARD:0002452",
      "MEDGEN:358388",
      "OMIM:608328",
      "Orphanet:2084",
      "SCTID:722450007",
      "UMLS:C1869115"
    ],
    "synonyms": [
      "mesodermal Dysmorphodystrophy, congenital",
      "spherophakia-brachymorphia syndrome",
      "GEMSS",
      "GEMSS syndrome",
      "WMS2",
      "Weill-Marchesani syndrome 2",
      "Weill-Marchesani syndrome type 2",
      "Weill-Marchesani syndrome, autosomal dominant",
      "glaucoma, ectopia, microspherophakia, Stiff joints and short stature syndrome",
      "glaucoma-lens ectopia-microspherophakia-stiffness-shortness syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "A Weill-Marchesani syndrome characterized by progressive joint stiffness, glaucoma, short stature and lens dislocation. It has been described in three members of a family (the grandfather, his daughter and grandson). It is likely to be transmitted as an autosomal dominant trait. The acronym GEMSS (Glaucoma, Ectopia, Microspherophakia, Stiff joints, Short stature) was proposed as a name for the syndrome. This syndrome shows similarities to Moore-Federman syndrome."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18256,
      "label": "Weill-Marchesani syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2905,
        4370,
        16089,
        19473
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050475",
          "GARD:0004936",
          "ICD9:759.89",
          "MEDGEN:82705",
          "MESH:D056846",
          "MedDRA:10064963",
          "NCIT:C85226",
          "NORD:1842",
          "OMIMPS:277600",
          "Orphanet:3449",
          "SCTID:2884008",
          "UMLS:C0265313"
        ],
        "synonyms": [
          "Weill Marchesani Syndrome",
          "spherophakia-brachymorphia syndrome",
          "WM syndrome",
          "WMS",
          "mesodermal dysmorphodystrophy congenital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Weill-Marchesani syndrome (WMS) is a rare condition characterized by short stature, brachydactyly, joint stiffness, and characteristic eye abnormalities including microspherophakia, ectopia of the lens, severe myopia, and glaucoma."
      },
      "child_count": 16,
      "reference_id": "MONDO:0018096"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18256,
      "label": "Weill-Marchesani syndrome"
    }
  ]
}