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    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:53:50",
      "DisorderDisorderAssociation": null,
      "DisorderFlag": [
        {
          "Label": null,
          "Value": 1
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      "DisorderGroup": "Disorder",
      "ExternalReference": [
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          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Reference": "5087",
          "Source": "GARD"
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": "Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet)",
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
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          "Reference": "Q70.0",
          "Source": "ICD-10"
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          "DisorderMappingICDRelation": "Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet)",
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
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          "Source": "ICD-10"
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          "DisorderMappingICDRefUri": 804340884,
          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#1736296640%2fother",
          "DisorderMappingICDRelation": "Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
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          "Source": "MONDO"
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          "Source": "MONDO"
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C538153",
          "Source": "MeSH"
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        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
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          "Source": "OMIM"
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        {
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          "Source": "OMIM"
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          "Reference": "C2699746",
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      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93403",
      "Preferred term": "Syndactyly type 2",
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        {
          "Definition": "A rare non-syndromic syndactyly characterized by a distinctive combination of syndactyly and polydactyly, generally affecting the 3rd and 4th fingers and the 4th and 5th toes, bilaterally, with partial or complete reduplication of a digital ray within the syndactylous web. Additional features include 5th finger clinodactyly, camptodactyly and/or brachydactyly."
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      ],
      "Synonym": [
        "Synpolydactyly"
      ],
      "Typology": "Morphological anomaly"
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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    "path": {
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    "query": {}
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