{
  "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": "HADHA",
                "Source": "ClinVar"
              },
              {
                "Reference": "ENSG00000084754",
                "Source": "Ensembl"
              },
              {
                "Reference": "HADHA",
                "Source": "Genatlas"
              },
              {
                "Reference": "4801",
                "Source": "HGNC"
              },
              {
                "Reference": "600890",
                "Source": "OMIM"
              },
              {
                "Reference": "P40939",
                "Source": "Reactome"
              },
              {
                "Reference": "P40939",
                "Source": "SwissProt"
              }
            ],
            "GeneType": "gene with protein product",
            "Locus": [
              {
                "GeneLocus": "2p23.3",
                "LocusKey": 1
              }
            ],
            "Symbol": "HADHA",
            "Synonym": [
              "LCHAD",
              "MTPA",
              "gastrin-binding protein",
              "long-chain 2-enoyl-CoA hydratase",
              "long-chain-3-hydroxyacyl-CoA dehydrogenase",
              "mitochondrial trifunctional protein, alpha subunit",
              "GBP",
              "LCEH"
            ],
            "name": "hydroxyacyl-CoA dehydrogenase trifunctional multienzyme complex subunit alpha"
          },
          "SourceOfValidation": "28515471[PMID]"
        }
      ],
      "DisorderGroup": "Disorder",
      "ORPHAcode": 243367,
      "OrphanetURL": "http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=243367",
      "Preferred term": "Acute fatty liver of pregnancy",
      "Typology": "Disease"
    }
  },
  "datasetCategory": {
    "lang": "en",
    "name": "Rare diseases and associated genes"
  },
  "parameters": {
    "path": {
      "ORPHAcode": 243367
    },
    "query": {}
  },
  "uri": "https://api.orphadata.com/rd-associated-genes/orphacodes/243367"
}