{
  "id": 3632,
  "label": "synostosis",
  "model": {
    "label": "Mondo Disease Ontology (MONDO)",
    "source": 0
  },
  "type_id": 0,
  "reference_id": "MONDO:0001411",
  "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."
  },
  "isLeaf": false,
  "isRoot": false,
  "child_count": 11,
  "parents": [
    {
      "id": 18362,
      "label": "dysostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        7153
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:1934",
          "ICD9:756.9",
          "MEDGEN:4430",
          "MESH:D004413",
          "NCIT:C34560",
          "Orphanet:364559",
          "SCTID:109420003",
          "UMLS:C0013393"
        ],
        "synonyms": [
          "dysostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A group of disorders in which the skeletal involvement is predominantly manifested as abnormalities of individual bones or in a group of bones."
      },
      "child_count": 108,
      "reference_id": "MONDO:0018234"
    }
  ],
  "children": [
    {
      "id": 8592,
      "label": "Banki syndrome",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0000813",
          "MEDGEN:350648",
          "MESH:C566228",
          "OMIM:109300",
          "Orphanet:1228",
          "SCTID:733093004",
          "UMLS:C1862319"
        ],
        "synonyms": [
          "Banki syndrome",
          "fusion of the lunate and cuneiform bones of the wrist, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis)"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Banki syndrome is a synostosis syndrome, reported in a single Hungarian family in which members of 3 generations showed lunotriquetral synostosis, clinodactyly, clinometacarpy, brachymetacarpy and leptometacarpy (thin diaphysis). It appeared to be a unique dominant mutation. There have been no further descriptions in the literature since 1965."
      },
      "child_count": 0,
      "reference_id": "MONDO:0007185"
    },
    {
      "id": 9088,
      "label": "humeroradial synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:0060467",
          "GARD:0002748",
          "HP:0003041",
          "ICD9:755.59",
          "MEDGEN:418931",
          "OMIM:143050",
          "Orphanet:3265",
          "SCTID:205329008",
          "UMLS:C2930865",
          "icd11.foundation:518723993"
        ],
        "synonyms": [
          "humero-radial fusion",
          "humeroradial synostosis",
          "humeroradial synostosis (disease)",
          "humero-radial synostosis"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Humero-radial synostosis is a rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus and radius bones at the elbow level, with or without associated ulnar and carpal/metacarpal deficiency, leading to loss of elbow motion and, in many cases, functional arm incapacity. Bowing of radius may be additionally present."
      },
      "child_count": 8,
      "reference_id": "MONDO:0007737"
    },
    {
      "id": 9809,
      "label": "calcaneonavicular coalition",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        2903,
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:14762",
          "GARD:0009863",
          "ICD9:755.8",
          "MEDGEN:360296",
          "MESH:C538156",
          "OMIM:186400",
          "SCTID:62628008",
          "UMLS:C1876184"
        ],
        "synonyms": [
          "calcaneonavicular coalition",
          "synostoses, tarsal, carpal, and digital"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet."
      },
      "child_count": 0,
      "reference_id": "MONDO:0008518"
    },
    {
      "id": 16310,
      "label": "craniosynostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:2340",
          "GARD:0006209",
          "ICD10CM:Q75.0",
          "MEDGEN:1163",
          "MESH:D003398",
          "MedDRA:10048907",
          "MedDRA:10049889",
          "NANDO:2100227",
          "NCIT:C84655",
          "OMIMPS:123100",
          "Orphanet:1531",
          "UMLS:C0010278",
          "icd11.foundation:458033798"
        ],
        "synonyms": [
          "craniosynostosis syndrome",
          "premature closure of cranial sutures",
          "CSO"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Craniosynostosis is defined as the premature fusion of one or more cranial sutures leading to secondary distortion of skull shape resulting in skull deformities with a variable presentation. Craniosynostosis may occur in an isolated setting or as part of a syndrome."
      },
      "child_count": 58,
      "reference_id": "MONDO:0015469"
    },
    {
      "id": 17757,
      "label": "tibio-fibular synostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0021208",
          "MEDGEN:1616659",
          "Orphanet:295028",
          "SCTID:737581000",
          "UMLS:C4545230",
          "icd11.foundation:1756900121"
        ],
        "synonyms": [
          "Tibio-fibular fusion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Tibio-fibular synostosis is a rare, non-syndromic limb malformation characterized by fusion of the proximal or distal tibial and fibular metaphysis and/or diaphysis, frequently associated with distal positioning of the proximal tibiofibular joint, leg length discrepancy, bowing of the fibula, and valgus deformity of the knee."
      },
      "child_count": 0,
      "reference_id": "MONDO:0017467"
    },
    {
      "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": 18160,
      "label": "humero-radio-ulnar synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632,
        5714
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0002749",
          "MEDGEN:1656946",
          "Orphanet:3266",
          "UMLS:C4751207",
          "icd11.foundation:1798339866"
        ],
        "synonyms": [
          "humero-radio-ulnar fusion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Humero-radio-ulnar synostosis is an extremely rare, genetic, congenital joint formation defect disorder characterized by uni- or bilateral fusion of the humerus, radius and ulnar bones, leading to loss of elbow motion and, in most, functional arm incapacity. It may appear as distal humeral bifurcation with absent elbow joint and shortened arm length on imaging. Hand abnormalities, namely oligoectrosyndactyly, may be associated."
      },
      "child_count": 4,
      "reference_id": "MONDO:0017983"
    },
    {
      "id": 18161,
      "label": "congenital radioulnar synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "DOID:9827",
          "GARD:0010876",
          "HP:0002974",
          "ICD9:755.53",
          "MEDGEN:57861",
          "MESH:C562408",
          "Orphanet:3269",
          "SCTID:33313004",
          "UMLS:C0158761",
          "icd11.foundation:1098526181"
        ],
        "synonyms": [
          "radioulnar fusion",
          "radioulnar synostosis",
          "radioulnar synostosis (disease)",
          "proximal, smooth fusion of 2-6 CM between the radius and ulna and absent head of the radius",
          "radial-ulnar synostosis",
          "radio-ulnar synostosis",
          "radio-ulnar synostosis type 1"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ],
        "definition": "Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living."
      },
      "child_count": 3,
      "reference_id": "MONDO:0017985"
    },
    {
      "id": 19526,
      "label": "humero-ulnar synostosis",
      "isLeaf": false,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0019244",
          "MEDGEN:451053",
          "Orphanet:94056",
          "UMLS:C0431799",
          "icd11.foundation:2144695561"
        ],
        "synonyms": [
          "humero-ulnar fusion"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 2,
      "reference_id": "MONDO:0019782"
    },
    {
      "id": 23116,
      "label": "coronal synostosis, syndactyly and jejunal atresia",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0001532",
          "MEDGEN:419740",
          "MESH:C536445",
          "UMLS:C2931194"
        ],
        "synonyms": [
          "asymmetrical coronal synostosis, cutaneous syndactyly of the fingers and toes, and jejunal atresia"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0043083"
    },
    {
      "id": 25127,
      "label": "non-syndromic pansynostosis",
      "isLeaf": true,
      "isRoot": false,
      "parents": [
        3632
      ],
      "type_id": 0,
      "properties": {
        "xrefs": [
          "GARD:0022481",
          "MEDGEN:1843220",
          "Orphanet:620212",
          "UMLS:C5680392"
        ],
        "categories": [
          {
            "ref": "MONDO:0002081",
            "name": "musculoskeletal system disorder"
          }
        ]
      },
      "child_count": 0,
      "reference_id": "MONDO:0850084"
    }
  ],
  "roots": [
    {
      "id": 18362,
      "label": "dysostosis"
    }
  ]
}