{
  "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 07:57:31",
      "DisorderGeneAssociation": [
        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "TWIST2",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000233608",
                "Source": "Ensembl"
              },
              {
                "Reference": "TWIST2",
                "Source": "Genatlas"
              },
              {
                "Reference": "20670",
                "Source": "HGNC"
              },
              {
                "Reference": "607556",
                "Source": "OMIM"
              },
              {
                "Reference": "Q8WVJ9",
                "Source": "Reactome"
              },
              {
                "Reference": "Q8WVJ9",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "2q37.3",
                "LocusKey": 1
              }
            ],
            "Symbol": "TWIST2",
            "Synonym": [
              "DERMO1",
              "Dermo-1",
              "bHLHa39"
            ],
            "name": "twist family bHLH transcription factor 2"
          },
          "SourceOfValidation": "26119818[PMID]"
        }
      ],
      "DisorderGroup": "Disorder",
      "ORPHAcode": 1231,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=1231",
      "Preferred term": "Barber-Say syndrome",
      "Typology": "Malformation syndrome"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated genes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 1231
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-associated-genes/orphacodes/1231"
}