{
  "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": "RHAG",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000112077",
                "Source": "Ensembl"
              },
              {
                "Reference": "RHAG",
                "Source": "Genatlas"
              },
              {
                "Reference": "10006",
                "Source": "HGNC"
              },
              {
                "Reference": "1198",
                "Source": "IUPHAR"
              },
              {
                "Reference": "180297",
                "Source": "OMIM"
              },
              {
                "Reference": "Q02094",
                "Source": "Reactome"
              },
              {
                "Reference": "Q02094",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "6p12.3",
                "LocusKey": 1
              }
            ],
            "Symbol": "RHAG",
            "Synonym": [
              "Ammonium transporter Rh type A",
              "CD241",
              "RH50A",
              "SLC42A1"
            ],
            "name": "Rh associated glycoprotein"
          },
          "SourceOfValidation": "8563755[PMID]_9716608[PMID]"
        },
        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "RHCE",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000188672",
                "Source": "Ensembl"
              },
              {
                "Reference": "RHCE",
                "Source": "Genatlas"
              },
              {
                "Reference": "10008",
                "Source": "HGNC"
              },
              {
                "Reference": "111700",
                "Source": "OMIM"
              },
              {
                "Reference": "P18577",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "1p36.11",
                "LocusKey": 1
              }
            ],
            "Symbol": "RHCE",
            "Synonym": [
              "CD240CE",
              "SLC42A4"
            ],
            "name": "Rh blood group CcEe antigens"
          },
          "SourceOfValidation": "9657766[PMID]_9657769[PMID]"
        },
        {
          "DisorderGeneAssociationStatus": "Assessed",
          "DisorderGeneAssociationType": "Disease-causing germline mutation(s) in",
          "Gene": {
            "ExternalReference": [
              {
                "Reference": "RHD",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000187010",
                "Source": "Ensembl"
              },
              {
                "Reference": "RHD",
                "Source": "Genatlas"
              },
              {
                "Reference": "10009",
                "Source": "HGNC"
              },
              {
                "Reference": "111680",
                "Source": "OMIM"
              },
              {
                "Reference": "Q02161",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "1p36.11",
                "LocusKey": 1
              }
            ],
            "Symbol": "RHD",
            "Synonym": [
              "CD240D",
              "DIIIc",
              "Rh30a",
              "Rh4",
              "RhII",
              "RhPI",
              "SLC42A5"
            ],
            "name": "Rh blood group D antigen"
          },
          "SourceOfValidation": "9657769[PMID]"
        }
      ],
      "DisorderGroup": "Disorder",
      "ORPHAcode": 71275,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=71275",
      "Preferred term": "Rh deficiency syndrome",
      "Typology": "Disease"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated genes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 71275
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-associated-genes/orphacodes/71275"
}