{
  "id": 18256,
  "label": "Weill-Marchesani syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0018096",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 2905,
      "label": "autosomal genetic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0050739",
          "ICD9:758.5",
          "MEDGEN:539205",
          "SCTID:1899006",
          "UMLS:C0265384"
        ],
        "synonyms": [
          "autosomal hereditary disorder",
          "autosomal inherited disease",
          "autosomal inherited disorder"
        ],
        "definition": "A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes."
      },
      "child_count": 8,
      "reference_id": "MONDO:0000429"
    },
    {
      "id": 4370,
      "label": "syndromic disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29379
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:225",
          "MEDGEN:11688",
          "MESH:D013577",
          "NCIT:C28193",
          "OGMS:0000086",
          "UMLS:C0039082"
        ],
        "synonyms": [
          "cluster, symptom",
          "clusters, symptom",
          "symptom cluster",
          "symptom clusters",
          "syndrome",
          "syndrome associated with disease or disorder",
          "syndromes",
          "syndromic disease",
          "syndromic disease or disorder"
        ],
        "categories": [
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition."
      },
      "child_count": 1182,
      "reference_id": "MONDO:0002254"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18951
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019833",
          "MEDGEN:1842829",
          "Orphanet:102285",
          "UMLS:C5680373"
        ],
        "synonyms": [
          "MCA without intellectual disability",
          "multiple congenital anomalies without intellectual disability with or without dysmorphism"
        ]
      },
      "child_count": 168,
      "reference_id": "MONDO:0015161"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18360
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019194",
          "MEDGEN:1843369",
          "Orphanet:93436",
          "UMLS:C4736195",
          "icd11.foundation:177141175"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 18,
      "reference_id": "MONDO:0019695"
    }
  ],
  "children": [
    {
      "id": 11376,
      "label": "Weill-Marchesani syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0015246",
          "MEDGEN:1637058",
          "OMIM:277600",
          "UMLS:C4552002"
        ],
        "synonyms": [
          "ADAMTS10 Weill-Marchesani syndrome",
          "Weill-Marchesani syndrome 1",
          "Weill-Marchesani syndrome 1, recessive",
          "Weill-Marchesani syndrome caused by mutation in ADAMTS10",
          "Weill-Marchesani syndrome type 1",
          "WMS1",
          "Weill-Marchesani syndrome, autosomal recessive",
          "mesodermal Dysmorphodystrophy, congenital",
          "spherophakia-brachymorphia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0010194"
    },
    {
      "id": 13084,
      "label": "Weill-Marchesani syndrome 2, dominant",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18256
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012013"
    },
    {
      "id": 14212,
      "label": "Weill-Marchesani 4 syndrome, recessive",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18256
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0017579",
          "MEDGEN:416383",
          "MESH:C567710",
          "OMIM:613195",
          "Orphanet:363992",
          "UMLS:C2750787"
        ],
        "synonyms": [
          "15q26.3 microdeletion syndrome",
          "WMS4",
          "Weill-Marchesani syndrome 4",
          "Weill-Marchesani-like syndrome",
          "ichthyosis-short stature-brachydactyly-microspherophakia syndrome"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0013176"
    },
    {
      "id": 14911,
      "label": "Weill-Marchesani syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18256,
        23976
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013899"
    }
  ],
  "roots": [
    {
      "id": 2905,
      "label": "autosomal genetic disease"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 16089,
      "label": "multiple congenital anomalies/dysmorphic syndrome without intellectual disability"
    },
    {
      "id": 19473,
      "label": "acromelic dysplasia"
    }
  ]
}