{
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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": [
        {
          "DisorderDisorderAssociationType": "Moved to",
          "RootDisorder": {
            "ORPHAcode": 86923,
            "Preferred term": "Hereditary palmoplantar keratoderma, Gamborg-Nielsen type"
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          "TargetDisorder": null
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          "Label": null,
          "Value": 1
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      "DisorderGroup": "Disorder",
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Reference": "92",
          "Source": "GARD"
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          "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)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "Q82.8",
          "Source": "ICD-10"
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          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#1259583500",
          "DisorderMappingICDRelation": "Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation)",
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          "Reference": "EC20.30",
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        {
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0009552",
          "Source": "MONDO"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "248300",
          "Source": "OMIM"
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        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C0025221",
          "Source": "UMLS"
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      ],
      "ORPHAcode": 87503,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=87503",
      "Preferred term": "Mal de Meleda",
      "SummaryInformation": [
        {
          "Definition": "A rare diffuse palmoplantar keratoderma characterized by symmetric palmoplantar hyperkeratosis that progressively extends to the dorsal surfaces of hands and feet (transgrediens). The disease can be associated to hyperhidrosis, lichenoid plaques and perioral erythema."
        }
      ],
      "Synonym": [
        "Meleda disease"
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      "Typology": "Disease"
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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    "path": {
      "ORPHAcode": 87503
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  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/87503"
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