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      "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",
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          "DisorderDisorderAssociationType": "Moved to",
          "RootDisorder": {
            "ORPHAcode": 202,
            "Preferred term": "Crandall syndrome"
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      "DisorderGroup": "Disorder",
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0009872",
          "Source": "MONDO"
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Reference": "C537633",
          "Source": "MeSH"
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        {
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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          "Source": "UMLS"
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      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=123",
      "Preferred term": "Bj\u00f6rnstad syndrome",
      "SummaryInformation": [
        {
          "Definition": "A rare mitochondrial oxidative phosphorylation disorder, caused by complex III deficiency, characterized by congenital sensorineural hearing loss and pili torti. Hypogonadism and intellectual disability were occasionally reported."
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      ],
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        "Deafness-pili torti-hypogonadism syndrome",
        "Hearing loss-pili torti-hypogonadism syndrome",
        "Crandall syndrome"
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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