{
  "id": 18123,
  "label": "multiple synostoses syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0017923",
  "properties": {
    "xrefs": [
      "DOID:0050794",
      "GARD:0003836",
      "MEDGEN:511579",
      "OMIMPS:186500",
      "Orphanet:3237",
      "UMLS:C0175700",
      "icd11.foundation:248917534"
    ],
    "synonyms": [
      "WL syndrome",
      "deafness-Hermann type symphalangism syndrome",
      "facio-audio-symphalangism",
      "symphalangism-brachydactyly syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      },
      {
        "ref": "MONDO:0002254",
        "name": "syndromic disease"
      }
    ],
    "definition": "Multiple synostoses syndrome (MSS) is a rare developmental bone disorder characterized by proximal symphalangism of the fingers and/or toes often associated with fusion of carpal and tarsal, humeroradial, and cervical spine joints."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 4,
  "parents": [
    {
      "id": 3632,
      "label": "synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        18362
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:11971",
          "GARD:0022939",
          "MEDGEN:11689",
          "MESH:D013580",
          "UMLS:C0039093"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A disease characterized by abnormal union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue."
      },
      "child_count": 11,
      "reference_id": "MONDO:0001411"
    },
    {
      "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": 5714,
      "label": "hereditary disease",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        29382
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:630",
          "EFO:0000508",
          "ICD9:799.89",
          "MEDGEN:5527",
          "MESH:D030342",
          "NCIT:C3101",
          "SCTID:32895009",
          "UMLS:C0019247"
        ],
        "synonyms": [
          "genetic condition",
          "genetic disease",
          "genetic disorder",
          "hereditary disease",
          "hereditary disease or disorder",
          "hereditary diseases",
          "inherited disease",
          "inherited genetic disease",
          "molecular disease",
          "Mendelian disease",
          "familial disorder",
          "inborn disorder"
        ],
        "definition": "A disease that is caused by genetic modifications where those modifications are inherited from a parent's genome."
      },
      "child_count": 1925,
      "reference_id": "MONDO:0003847"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        19507
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "Orphanet:68378"
        ],
        "synonyms": [
          "congenital limb malformation"
        ]
      },
      "child_count": 107,
      "reference_id": "MONDO:0019054"
    }
  ],
  "children": [
    {
      "id": 9810,
      "label": "multiple synostoses syndrome 1",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18123,
        24246
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081317",
          "GARD:0015115",
          "MEDGEN:90977",
          "OMIM:186500",
          "UMLS:C0342282"
        ],
        "synonyms": [
          "NOG multiple synostoses syndrome",
          "multiple synostoses syndrome 1",
          "multiple synostoses syndrome caused by mutation in NOG",
          "multiple synostoses syndrome caused by mutation in nog",
          "multiple synostoses syndrome type 1",
          "nog multiple synostoses syndrome",
          "SYNS1",
          "Wl syndrome",
          "deafness-symphalangism syndrome of Herrmann",
          "facioaudiosymphalangism syndrome",
          "symphalangism brachydactyly syndrome",
          "symphalangism-brachydactyly syndrome",
          "synostoses multiple with brachydactyly",
          "synostoses, multiple, with brachydactyly"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the NOG gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008519"
    },
    {
      "id": 13445,
      "label": "multiple synostoses syndrome 2",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081318",
          "GARD:0009916",
          "MEDGEN:331348",
          "MESH:C537380",
          "OMIM:610017",
          "UMLS:C1832708"
        ],
        "synonyms": [
          "GDF5 multiple synostoses syndrome",
          "multiple synostoses syndrome 2",
          "multiple synostoses syndrome caused by mutation in GDF5",
          "multiple synostoses syndrome type 2",
          "SYNS2"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0012394"
    },
    {
      "id": 14102,
      "label": "multiple synostoses syndrome 3",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081319",
          "GARD:0015597",
          "MEDGEN:414116",
          "MESH:C567839",
          "OMIM:612961",
          "UMLS:C2751826"
        ],
        "synonyms": [
          "FGF9 multiple synostoses syndrome",
          "multiple synostoses syndrome 3",
          "multiple synostoses syndrome caused by mutation in FGF9",
          "multiple synostoses syndrome type 3",
          "SYNS3"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ],
        "definition": "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene."
      },
      "child_count": 0,
      "reference_id": "MONDO:0013064"
    },
    {
      "id": 23613,
      "label": "multiple synostoses syndrome 4",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        18123
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0081320",
          "GARD:0025968",
          "MEDGEN:1638842",
          "OMIM:617898",
          "UMLS:C4693531"
        ],
        "synonyms": [
          "multiple synostoses syndrome 4",
          "SYNS4"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          },
          {
            "ref": "MONDO:0002254",
            "name": "syndromic disease"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0054752"
    }
  ],
  "roots": [
    {
      "id": 3632,
      "label": "synostosis"
    },
    {
      "id": 4370,
      "label": "syndromic disease"
    },
    {
      "id": 5714,
      "label": "hereditary disease"
    },
    {
      "id": 18956,
      "label": "congenital limb malformation"
    }
  ]
}