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      "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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      "DisorderGroup": "Disorder",
      "ExternalReference": [
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          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "9886",
          "Source": "GARD"
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        {
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          "DisorderMappingICDRefUrl": null,
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          "Reference": "LD27.2",
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        {
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          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0012089",
          "Source": "MONDO"
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C536271",
          "Source": "MeSH"
        },
        {
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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=88621",
      "Preferred term": "Ichthyosis-prematurity syndrome",
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        {
          "Definition": "A rare, syndromic congenital ichthyosis characterized by premature birth (at gestational weeks 30-32, in general) in addition to thick, caseous and desquamating epidermis, neonatal respiratory asphyxia, and persistent eosinophilia. After the perinatal period, a spontaneous improvement in the health of affected patients is observed and skin features (vernix caseosa-like scale) evolve into a mild presentation of flat follicular hyperkeratosis with atopy."
        }
      ],
      "Synonym": [
        "Congenital ichthyosis type 4",
        "IPS"
      ],
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    }
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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