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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",
      "DisorderDisorderAssociation": null,
      "DisorderFlag": [
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          "Value": 1
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      ],
      "DisorderGroup": "Disorder",
      "ExternalReference": [
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          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "1899",
          "Source": "GARD"
        },
        {
          "DisorderMappingICDRefUri": null,
          "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": "Q87.8",
          "Source": "ICD-10"
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          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#1106405864%2fother",
          "DisorderMappingICDRelation": "Index term (ICD-10: Orphanet entity listed in the ICD-10 Index. ICD-11: Orphanet entity listed in the ICD-11 Foundation)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "LD2F.1Y",
          "Source": "ICD-11"
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          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0009104",
          "Source": "MONDO"
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        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C536390",
          "Source": "MeSH"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "222448",
          "Source": "OMIM"
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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": "C1857277",
          "Source": "UMLS"
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      "ORPHAcode": 2143,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2143",
      "Preferred term": "Donnai-Barrow syndrome",
      "SummaryInformation": [
        {
          "Definition": "A multiple congenital malformation syndrome characterized by typical facial dysmorphism, myopia and other ocular findings, hearing loss, agenesis of the corpus callosum, low-molecular-weight proteinuria, and variable intellectual disability. Congenital diaphragmatic hernia (CDH) and/or omphalocele are common."
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      ],
      "Synonym": [
        "DBS/FOAR syndrome",
        "Diaphragmatic hernia-exomphalos-hypertelorism syndrome",
        "Diaphragmatic hernia-hypertelorism-myopia-deafness syndrome",
        "Diaphragmatic hernia-hypertelorism-myopia-hearing loss syndrome",
        "FOAR syndrome",
        "Facio-oculo-acoustico-renal syndrome",
        "Holmes-Schepens syndrome",
        "Syndrome of ocular and facial anomalies, telecanthus and deafness",
        "Syndrome of ocular and facial anomalies, telecanthus and hearing loss"
      ],
      "Typology": "Malformation syndrome"
    }
  },
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    "lang": "en",
    "name": "Rare diseases and cross-referencing"
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    "path": {
      "ORPHAcode": 2143
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    "query": {}
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  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/2143"
}