{
  "id": 14911,
  "label": "Weill-Marchesani syndrome 3",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0013899",
  "properties": {
    "xrefs": [
      "GARD:0015844",
      "MEDGEN:766699",
      "OMIM:614819",
      "UMLS:C3553785"
    ],
    "synonyms": [
      "LTBP2 Weill-Marchesani syndrome",
      "Weill-Marchesani syndrome 3",
      "Weill-Marchesani syndrome 3, recessive",
      "Weill-Marchesani syndrome caused by mutation in LTBP2",
      "Weill-Marchesani syndrome type 3",
      "WMS3"
    ],
    "categories": [
      {
        "ref": "MONDO:0002022",
        "name": "disorder of orbital region"
      },
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      },
      {
        "ref": "MONDO:0024458",
        "name": "disorder of visual system"
      }
    ],
    "definition": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene."
  },
  "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"
    },
    {
      "id": 23976,
      "label": "LTBP2-related ocular dysgenesis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714,
        7019
      ],
      "type_id": 0,
      "properties": {
        "categories": [
          {
            "ref": "MONDO:0002022",
            "name": "disorder of orbital region"
          },
          {
            "ref": "MONDO:0024458",
            "name": "disorder of visual system"
          }
        ],
        "definition": "Any ocular dysgenesis disorder in which the cause of the disease is a mutation in the LTBP2 gene."
      },
      "child_count": 6,
      "reference_id": "MONDO:0100236"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18256,
      "label": "Weill-Marchesani syndrome"
    },
    {
      "id": 23976,
      "label": "LTBP2-related ocular dysgenesis"
    }
  ]
}