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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": null,
      "DisorderFlag": [
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          "Label": null,
          "Value": 1
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      "DisorderGroup": "Disorder",
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          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0007688",
          "Source": "MONDO"
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
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          "Source": "MeSH"
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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",
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        {
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          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
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      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2588",
      "Preferred term": "Myhre syndrome",
      "SummaryInformation": [
        {
          "Definition": "A rare multiple congenital anomalies syndrome characterized by short stature, distinctive facial dysmorphism, brachydactyly, stiff and thick skin, muscular pseudohypertrophy, restricted joint mobility, hearing loss, and variable intellectual disability. Cardiovascular and respiratory involvement are common."
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      ],
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        "Facial dysmorphism-intellectual disability-short stature-deafness syndrome",
        "Facial dysmorphism-intellectual disability-short stature-hearing loss syndrome",
        "Myhre-LAPS syndrome",
        "Myhre-Laryngotracheal stenosis-arthropathy-prognathism-short stature syndrome"
      ],
      "Typology": "Malformation syndrome"
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    "name": "Rare diseases and cross-referencing"
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    "path": {
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  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/2588"
}