{
  "id": 9810,
  "label": "multiple synostoses syndrome 1",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008519",
  "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."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "id": 18123,
      "label": "multiple synostoses syndrome",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        4370,
        5714,
        18956
      ],
      "type_id": 0,
      "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."
      },
      "child_count": 16,
      "reference_id": "MONDO:0017923"
    },
    {
      "id": 24246,
      "label": "NOG-related symphalangism spectrum disorder",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        2744,
        2903
      ],
      "type_id": 0,
      "properties": {
        "synonyms": [
          "NOG-SSD"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "An autosomal dominant condition caused by pathogenic variants of the NOG gene, encoding the noggin protein. Five overlapping clinical syndromes associated with NOG mutations have been described; proximal symphalangism, multiple synostoses syndrome 1, tarsal-carpal coalition syndrome, stapes ankylosis with broad thumbs and toes, and brachydactyly type B2. NOG-related symphalangism spectrum disorder is a new term initially proposed by Potti et al., 2011 to encompass these disorders. NOG-SSD is characterized by proximal symphalangism, conductive deafness caused by stapes ankylosis, ocular abnormality such as hyperopia and strabismus, and characteristic facial features including a broad, tubular-shaped nose and a thin upper vermilion."
      },
      "child_count": 10,
      "reference_id": "MONDO:0100521"
    }
  ],
  "children": [],
  "roots": [
    {
      "id": 18123,
      "label": "multiple synostoses syndrome"
    },
    {
      "id": 24246,
      "label": "NOG-related symphalangism spectrum disorder"
    }
  ]
}