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      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
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      "Date": "2026-06-23 07:53:50",
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          "DisorderMappingICDRefUrl": null,
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          "Source": "GARD"
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          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
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          "Reference": "0100229",
          "Source": "MONDO"
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          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C535994",
          "Source": "MeSH"
        },
        {
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          "DisorderMappingICDRefUrl": null,
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          "DisorderMappingValidationStatus": "Validated",
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          "Source": "OMIM"
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          "DisorderMappingICDRefUrl": null,
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          "Source": "OMIM"
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      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=3220",
      "Preferred term": "Deafness-enamel hypoplasia-nail defects syndrome",
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        {
          "Definition": "A rare genetic disease characterized by sensorineural hearing loss, abnormalities in the secondary dentition (such as enamel hypoplasia, taurodontism, or dental overcrowding), and nail abnormalities (including leukonychia and presence of transverse ridges). Association with macular dystrophy has also been reported."
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      ],
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        "Heimler syndrome"
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