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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": 2853,
            "Preferred term": "Serpentine fibula-polycystic kidneys syndrome"
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      "DisorderGroup": "Disorder",
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          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Reference": "508",
          "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)",
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          "Reference": "M89.5",
          "Source": "ICD-10"
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          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#278179208",
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0007057",
          "Source": "MONDO"
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        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Reference": "D031845",
          "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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        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "102500",
          "Source": "OMIM"
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        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Reference": "C0917715",
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      "ORPHAcode": 955,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=955",
      "Preferred term": "Hajdu-Cheney syndrome",
      "SummaryInformation": [
        {
          "Definition": "A rare autosomal dominant skeletal disorder, characterized by progressive bone resorption in the distal phalanges (acro-osteolysis), progressive osteoporosis, distinct craniofacial changes, dental anomalies, and occasional association with renal abnormalities."
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      ],
      "Synonym": [
        "Acroosteolysis dominant type",
        "Acroosteolysis with osteoporosis and changes in skull and mandible",
        "Arthrodentoosteodysplasia",
        "Cheney syndrome"
      ],
      "Typology": "Malformation syndrome"
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  },
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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    "path": {
      "ORPHAcode": 955
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    "query": {}
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  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/955"
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