{
  "data": {
    "__count": 1,
    "__licence": {
      "identifier": "CC-BY-4.0",
      "link": "https://creativecommons.org/licenses/by/4.0",
      "name": "Creative Commons Attribution 4.0 International"
    },
    "results": {
      "Date": "2026-06-23 07:53:50",
      "DisorderDisorderAssociation": null,
      "DisorderFlag": [
        {
          "Label": null,
          "Value": 1
        }
      ],
      "DisorderGroup": "Disorder",
      "ExternalReference": [
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "312",
          "Source": "GARD"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": "Inclusion term (ICD-10: Orphanet entity included under an ICD-10 category and has not its own code)",
          "DisorderMappingRelation": "NTBT (ORPHAcode is narrower than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "Q87.1",
          "Source": "ICD-10"
        },
        {
          "DisorderMappingICDRefUri": 1010745722,
          "DisorderMappingICDRefUrl": "https://icd.who.int/browse/latest-release/mms/en#533702276",
          "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": "LD24.A",
          "Source": "ICD-11"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "0019978",
          "Source": "MONDO"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C562492",
          "Source": "MeSH"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "10084325",
          "Source": "MedDRA"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "180700",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "268310",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "616331",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "BTNT (ORPHAcode is broader than the targeted code used to represent it)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "616894",
          "Source": "OMIM"
        },
        {
          "DisorderMappingICDRefUri": null,
          "DisorderMappingICDRefUrl": null,
          "DisorderMappingICDRelation": null,
          "DisorderMappingRelation": "E (Exact mapping: the two concepts are equivalent)",
          "DisorderMappingValidationStatus": "Validated",
          "Reference": "C0265205",
          "Source": "UMLS"
        }
      ],
      "ORPHAcode": 97360,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=97360",
      "Preferred term": "Robinow syndrome",
      "SummaryInformation": [
        {
          "Definition": "Robinow syndrome (RS) is a rare genetic syndrome characterized by limb shortening and abnormalities of the head, face and external genitalia."
        }
      ],
      "Synonym": [
        "Acral dysostosis with facial and genital abnormalities",
        "Fetal face syndrome",
        "Mesomelic dwarfism-small genitalia syndrome",
        "Robinow dwarfism",
        "Robinow-Silverman-Smith syndrome"
      ],
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and cross-referencing"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 97360
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-cross-referencing/orphacodes/97360"
}
