{
  "id": 9812,
  "label": "tarsal-carpal coalition syndrome",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0008521",
  "properties": {
    "xrefs": [
      "DOID:0050789",
      "GARD:0009225",
      "ICD9:756.9",
      "MEDGEN:348322",
      "OMIM:186570",
      "Orphanet:1412",
      "SCTID:702312009",
      "UMLS:C1861305",
      "icd11.foundation:1118132902"
    ],
    "synonyms": [
      "tarsal-carpal coalition syndrome",
      "TCC",
      "synostosis of talus and calcaneus with short stature",
      "tarsal carpal coalition syndrome"
    ],
    "categories": [
      {
        "ref": "MONDO:0002081",
        "name": "musculoskeletal system disorder"
      }
    ],
    "definition": "Tarsal-carpal coalition syndrome is characterized by fusion of the carpals, tarsals, and phalanges."
  },
  "isLeaf": true,
  "isRoot": false,
  "child_count": 0,
  "parents": [
    {
      "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"
    },
    {
      "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": 18956,
      "label": "congenital limb malformation"
    },
    {
      "id": 24246,
      "label": "NOG-related symphalangism spectrum disorder"
    }
  ]
}