{
  "id": 9775,
  "label": "stapes ankylosis with broad thumbs and toes",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008484",
  "properties": {
    "xrefs": [
      "GARD:0012631",
      "MEDGEN:357104",
      "OMIM:184460",
      "Orphanet:140917",
      "SCTID:719305006",
      "UMLS:C1866656",
      "icd11.foundation:387089262"
    ],
    "synonyms": [
      "Teunissen-Cremers syndrome",
      "ankylosis of stapes, hyperopia, Broad thumbs, Broad first toes, and syndactyly",
      "stapes ankylosis syndrome without symphalangism",
      "stapes ankylosis with BROAD thumb and toes"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Stapes ankylosis with broad thumbs and toes is a very rare genetic bone disorder characterized by ankylosis of stapes, broad thumbs and halluces, conductive hearing loss and hyperopia."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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": 24246,
      "label": "NOG-related symphalangism spectrum disorder"
    }
  ]
}