{
    "disease_id": "DOID:0080957",
    "recommended_name": {
        "id": "DOID:0080957",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080957",
        "name": "primary hypoalphalipoproteinemia 1",
        "description": "A hypolipoproteinemia that is characterized by low levels of high-density lipoprotein in the blood and that has_material_basis_in heterozygous mutation in the ABC1 gene on chromosome 9q31, which is also the site of mutations causing Tangier disease."
    },
    "synonyms": [
        {
            "id": "DOID:0080957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080957",
            "name": "familial hypoalphalipoproteinemia",
            "description": ""
        },
        {
            "id": "DOID:0080957",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080957",
            "name": "familial HDL deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "hypoalphalipoproteinemia, primary, 1",
            "description": "Any ypoalphalipoproteinemia in which the cause of the disease is a mutation in the ABCA1 gene."
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "HDL deficiency, familial, 1",
            "description": ""
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "hypoalphalipoproteinemia, familial",
            "description": ""
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "FHA",
            "description": ""
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "FHD",
            "description": ""
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "HDLD",
            "description": ""
        },
        {
            "id": "MONDO:0011393",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "name": "familial HDL deficiency",
            "description": ""
        },
        {
            "id": "MIM:604091",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/604091",
            "name": "Hypoalphalipoproteinemia, primary, 1",
            "description": "Hypoalphalipoproteinemia, primary, 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080957"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080957",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080957",
            "categories": []
        },
        {
            "id": "MONDO:0011393",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011393",
            "categories": []
        },
        {
            "id": "MIM:604091",
            "database": "MIM",
            "url": "https://www.omim.org/entry/604091",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B8A446-1",
            "uniprot_ac": "B8A446",
            "uniprot_id": "B8A446_DANRE",
            "refseq_ac": "NP_001296394",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type phospholipid transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA1a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abca1a",
                    "type": "recommended"
                },
                {
                    "name": "abca1a",
                    "type": "synonym"
                },
                {
                    "name": "abca1",
                    "type": "synonym"
                },
                {
                    "name": "cb939",
                    "type": "synonym"
                },
                {
                    "name": "fa03d03",
                    "type": "synonym"
                },
                {
                    "name": "im:6795541",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa03d03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj13h01",
                    "type": "synonym"
                }
            ],
            "record_id": "B8A446-1",
            "evidence": [
                {
                    "id": "0080957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7F2Y6-1",
            "uniprot_ac": "E7F2Y6",
            "uniprot_id": "E7F2Y6_DANRE",
            "refseq_ac": "XP_005173137",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type phospholipid transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA1b isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "abca1b",
                    "type": "recommended"
                },
                {
                    "name": "abca1b",
                    "type": "synonym"
                },
                {
                    "name": "im:7136239",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb407",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa07e06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171581",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2Y6-1",
            "evidence": [
                {
                    "id": "0080957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P41233-1",
            "uniprot_ac": "P41233",
            "uniprot_id": "ABCA1_MOUSE",
            "refseq_ac": "NP_038482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase ABCA1",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ABC-1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca1",
                    "type": "recommended"
                },
                {
                    "name": "ABC-1",
                    "type": "synonym"
                },
                {
                    "name": "Abc1",
                    "type": "synonym"
                },
                {
                    "name": "Abca1",
                    "type": "synonym"
                }
            ],
            "record_id": "P41233-1",
            "evidence": [
                {
                    "id": "0080957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95477-1",
            "uniprot_ac": "O95477",
            "uniprot_id": "ABCA1_HUMAN",
            "refseq_ac": "NP_005493",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase ABCA1",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "ABC-1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette sub-family A member 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette transporter A1",
                    "type": "synonym"
                },
                {
                    "name": "ATP-binding cassette, sub-family A (ABC1), member 1",
                    "type": "synonym"
                },
                {
                    "name": "Cholesterol efflux regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "cholesterol efflux regulatory protein",
                    "type": "synonym"
                },
                {
                    "name": "membrane-bound",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ABCA1",
                    "type": "recommended"
                },
                {
                    "name": "ABC-1",
                    "type": "synonym"
                },
                {
                    "name": "ABC1",
                    "type": "synonym"
                },
                {
                    "name": "ABCA1",
                    "type": "synonym"
                },
                {
                    "name": "CERP",
                    "type": "synonym"
                },
                {
                    "name": "HDLCQTL13",
                    "type": "synonym"
                },
                {
                    "name": "HDLDT1",
                    "type": "synonym"
                },
                {
                    "name": "HPALP1",
                    "type": "synonym"
                },
                {
                    "name": "TGD",
                    "type": "synonym"
                }
            ],
            "record_id": "O95477-1",
            "evidence": [
                {
                    "id": "604091",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/604091"
                },
                {
                    "id": "0080957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080957"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZLK5-1",
            "uniprot_ac": "A0A8I5ZLK5",
            "uniprot_id": "A0A8I5ZLK5_RAT",
            "refseq_ac": "XP_038965774",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "P-type phospholipid transporter",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase ABCA1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Abca1",
                    "type": "recommended"
                },
                {
                    "name": "Abca1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZLK5-1",
            "evidence": [
                {
                    "id": "0080957",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080957"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080957"
}