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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"
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    "results": {
      "Date": "2026-06-23 07:53:50",
      "DisorderDisorderAssociation": null,
      "DisorderFlag": [
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          "Label": null,
          "Value": 1
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      "DisorderGroup": "Subtype of disorder",
      "ExternalReference": [
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          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "273",
          "Source": "GARD"
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        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": "Attributed code (ICD-10/ICD-11: The targeted code is assigned by Orphanet)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
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          "DisorderMappingValidationStatus": "Validated",
          "Reference": "LD2B",
          "Source": "ICD-11"
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          "Reference": "0010208",
          "Source": "MONDO"
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C536750",
          "Source": "MeSH"
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        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingValidationStatus": "Validated",
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          "Source": "OMIM"
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      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2834",
      "Preferred term": "Wrinkly skin syndrome",
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        {
          "Definition": "Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism)."
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        "WSS",
        "Wrinkled skin syndrome"
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      "Typology": "Clinical subtype"
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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