{
    "disease_id": "DOID:0070634",
    "recommended_name": {
        "id": "DOID:0070634",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070634",
        "name": "sitosterolemia 1",
        "description": "A sitosterolemia that has_material_basis_in homozygous or compound heterozygous mutation in the ABCG8 gene on chromosome 2p21."
    },
    "synonyms": [
        {
            "id": "MONDO:0020747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020747",
            "name": "sitosterolemia 1",
            "description": ""
        },
        {
            "id": "MONDO:0020747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020747",
            "name": "STSL1",
            "description": ""
        },
        {
            "id": "MONDO:0020747",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020747",
            "name": "sitosterolemia 1",
            "description": ""
        },
        {
            "id": "MIM:210250",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/210250",
            "name": "Sitosterolemia 1",
            "description": "Sitosterolemia 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070634"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070634",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070634",
            "categories": []
        },
        {
            "id": "MONDO:0020747",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0020747",
            "categories": []
        },
        {
            "id": "MIM:210250",
            "database": "MIM",
            "url": "https://www.omim.org/entry/210250",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A0R4IGG8-1",
            "uniprot_ac": "A0A0R4IGG8",
            "uniprot_id": "A0A0R4IGG8_DANRE",
            "refseq_ac": "NP_001108041",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family G member 8",
                    "type": "recommended"
                },
                {
                    "name": "ATP-binding cassette sub-family G member 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Sterolin-2",
                    "type": "synonym"
                },
                {
                    "name": "sterolin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abcg8",
                    "type": "recommended"
                },
                {
                    "name": "abcg8",
                    "type": "synonym"
                },
                {
                    "name": "zgc:172358",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IGG8-1",
            "evidence": [
                {
                    "id": "0070634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DBM0-1",
            "uniprot_ac": "Q9DBM0",
            "uniprot_id": "ABCG8_MOUSE",
            "refseq_ac": "NP_001272934",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family G member 8",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family G member 8 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family G member 8",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family G (WHITE), member 8",
                    "type": "synonym"
                },
                {
                    "name": "Sterolin-2",
                    "type": "synonym"
                },
                {
                    "name": "sterolin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcg8",
                    "type": "recommended"
                },
                {
                    "name": "1300003C16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Abcg8",
                    "type": "synonym"
                },
                {
                    "name": "sterolin-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DBM0-1",
            "evidence": [
                {
                    "id": "0070634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H221-1",
            "uniprot_ac": "Q9H221",
            "uniprot_id": "ABCG8_HUMAN",
            "refseq_ac": "NP_071882",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family G member 8",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family G member 8 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family G (WHITE), member 8",
                    "type": "synonym"
                },
                {
                    "name": "Sterolin-2",
                    "type": "synonym"
                },
                {
                    "name": "sterolin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCG8",
                    "type": "recommended"
                },
                {
                    "name": "ABCG8",
                    "type": "synonym"
                },
                {
                    "name": "GBD4",
                    "type": "synonym"
                },
                {
                    "name": "STSL1",
                    "type": "synonym"
                },
                {
                    "name": "STSL",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H221-1",
            "evidence": [
                {
                    "id": "210250",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/210250"
                },
                {
                    "id": "0070634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08234-1",
            "uniprot_ac": "Q08234",
            "uniprot_id": "YO075_YEAST",
            "refseq_ac": "NP_014567",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized ABC transporter ATP-binding protein/permease YOL075C",
                    "type": "recommended"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "YOL074C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08234-1",
            "evidence": [
                {
                    "id": "0070634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P58428-3",
            "uniprot_ac": "P58428",
            "uniprot_id": "ABCG8_RAT",
            "refseq_ac": "NP_569098",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ATP-binding cassette sub-family G member 8",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.-",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family G member 8",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family G (WHITE), member 8",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, subfamily G (WHITE), member 8",
                    "type": "synonym"
                },
                {
                    "name": "Sterolin-2",
                    "type": "synonym"
                },
                {
                    "name": "sterolin 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abcg8",
                    "type": "recommended"
                },
                {
                    "name": "Abcg8",
                    "type": "synonym"
                }
            ],
            "record_id": "P58428-3",
            "evidence": [
                {
                    "id": "0070634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070634"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q0KI14-1",
            "uniprot_ac": "Q0KI14",
            "uniprot_id": "Q0KI14_DROME",
            "refseq_ac": "NP_733058",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "ABC transporter domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG31121-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG18633",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH19411",
                    "type": "synonym"
                },
                {
                    "name": "CG11764",
                    "type": "synonym"
                },
                {
                    "name": "CG18633",
                    "type": "synonym"
                },
                {
                    "name": "CG18655",
                    "type": "synonym"
                },
                {
                    "name": "CG31121",
                    "type": "synonym"
                },
                {
                    "name": "DmCG31121",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG31121",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG31121",
                    "type": "synonym"
                }
            ],
            "record_id": "Q0KI14-1",
            "evidence": [
                {
                    "id": "0070634",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070634"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070634"
}