{
    "disease_id": "DOID:0111366",
    "recommended_name": {
        "id": "DOID:0111366",
        "resource": "Disease Ontology",
        "url": "http://disease-ontology.org/term/DOID:0111366",
        "name": "familial hepatic adenoma",
        "description": "A hepatocellular adenoma characterized by highly vascularized liver adenomas that has_material_basis_in homozygous or compound heterozygous mutation in the HNF1A gene on chromosome 12q24.31."
    },
    "synonyms": [
        {
            "id": "DOID:0111366",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111366",
            "name": "familial liver cell adenomas",
            "description": ""
        },
        {
            "id": "MONDO:0007718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007718",
            "name": "hepatic adenomas, familial",
            "description": ""
        },
        {
            "id": "MONDO:0007718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007718",
            "name": "hepatic adenoma, somatic",
            "description": ""
        },
        {
            "id": "MONDO:0007718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007718",
            "name": "hepatic adenomas, familial",
            "description": ""
        },
        {
            "id": "MONDO:0007718",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007718",
            "name": "liver cell adenomas, familial",
            "description": ""
        },
        {
            "id": "MIM:142330",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/142330",
            "name": "Hepatic adenomas familial",
            "description": "Hepatic adenomas familial"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111366"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111366",
            "database": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0111366",
            "categories": []
        },
        {
            "id": "MONDO:0007718",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007718",
            "categories": []
        },
        {
            "id": "MIM:142330",
            "database": "MIM",
            "url": "https://www.omim.org/entry/142330",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P22361-1",
            "uniprot_ac": "P22361",
            "uniprot_id": "HNF1A_MOUSE",
            "refseq_ac": "NP_033353",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Liver-specific transcription factor LF-B1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "liver-specific transcription factor LF-B1; transcription factor 1",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf1a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "Hnf-1; HNF1; HNF1-alpha; Hnf1alpha; HNF1[a]; LFB1; Tcf-1; Tcf1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tcf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111366",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25089-1",
            "uniprot_ac": "P25089",
            "uniprot_id": "FPR3_HUMAN",
            "refseq_ac": "NP_002021",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "N-formyl peptide receptor 3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FMLP-R-II",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "FMLP-related receptor II",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Formyl peptide receptor-like 2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "N-formyl peptide receptor 3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "formyl peptide receptor-like 2; FMLP-related receptor II",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FPR3",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "FML2_HUMAN; FMLP-R-II; FMLPY; FPRH1; FPRH2; FPRL2; RMLP-R-I",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FPR3",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "FPRH1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "FPRL2",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111366",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20823-1",
            "uniprot_ac": "P20823",
            "uniprot_id": "HNF1A_HUMAN",
            "refseq_ac": "NP_000536",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Liver-specific transcription factor LF-B1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hepatic nuclear factor 1; albumin proximal factor; hepatocyte nuclear factor 1-alpha; transcription factor 1, hepatic; interferon production regulator factor; liver-specific transcription factor LF-B1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha isoform 2",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HNF1A",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha; HNF-1A; HNF1; HNF1alpha; HNF4A; IDDM20; LFB1; MODY3; TCF-1; TCF1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "HNF1A",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "TCF1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hCG_27361",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111366",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111366"
                },
                {
                    "id": "142330",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/142330"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8UVH4-1",
            "uniprot_ac": "Q8UVH4",
            "uniprot_id": "Q8UVH4_DANRE",
            "refseq_ac": "NP_739570",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "HNF1 homeobox a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1 alpha; transcription factor 1; af244934-22s",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "hnf1a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "hnf1-a; tcf1; xx:af244934-22s",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hnf1-a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hnf1a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "tcf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "xx:af244934-22s",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111366",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111366"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15257-1",
            "uniprot_ac": "P15257",
            "uniprot_id": "HNF1A_RAT",
            "refseq_ac": "NP_036801",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Hepatocyte nuclear factor 1-alpha",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HNF-1-alpha",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "HNF-1A",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "LFB1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Liver-specific transcription factor LF-B1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "TCF-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Transcription factor 1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "hepatic nuclear factor-1-alpha; HNF-1A; liver-specific transcription factor LF-B1; TCF-1; HNF-1-alpha; albumin proximal factor; hepatic nuclear factor 1; LF-B1, hepatic nuclear factor (HNF1): albumin proximal factor, also TCF1; Transcription factor 1, hepatic",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "hepatocyte nuclear factor 1-alpha",
                    "resource": "RefSeq",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hnf1a",
                    "resource": "UniProtKB",
                    "type": "recommended"
                },
                {
                    "name": "HNF1; LF-B1; Lfb1; Tcf1",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1a",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hnf-1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                },
                {
                    "name": "Hnf1a",
                    "resource": "RefSeq",
                    "type": "synonym"
                },
                {
                    "name": "Tcf1",
                    "resource": "UniProtKB",
                    "type": "synonym"
                }
            ],
            "evidence": [
                {
                    "id": "0111366",
                    "database": "Alliance of Genome Resources",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111366"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111366"
}