{
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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
        }
      ],
      "DisorderGroup": "Disorder",
      "ExternalReference": [
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "4540",
          "Source": "GARD"
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        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
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          "Source": "ICD-10"
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          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#1192649257",
          "DisorderMappingICDRelation": "Specific code (ICD-10/ICD-11: ORPHAcode has its own code in the targeted terminology)",
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "LD24.60",
          "Source": "ICD-11"
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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": "0008322",
          "Source": "MONDO"
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C535819",
          "Source": "MeSH"
        },
        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "177170",
          "Source": "OMIM"
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        {
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C0410538",
          "Source": "UMLS"
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      ],
      "ORPHAcode": 750,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=750",
      "Preferred term": "Pseudoachondroplasia",
      "SummaryInformation": [
        {
          "Definition": "Pseudoachondroplasia is characterized by severe growth deficiency and deformations such as bow legs and hyperlordosis."
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      ],
      "Synonym": [
        "Pseudoachondroplastic dysplasia",
        "Pseudoachondroplastic spondyloepiphyseal dysplasia"
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      "Typology": "Disease"
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  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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    "path": {
      "ORPHAcode": 750
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    "query": {}
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  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/750"
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