{
    "disease_id": "DOID:0080958",
    "recommended_name": {
        "id": "DOID:0080958",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080958",
        "name": "primary hypoalphalipoproteinemia 2",
        "description": "A hypolipoproteinemia that is characterized by dysfunctional apoA-I production, resulting in undetectable levels of apoA-I in serum and in markedly low levels of serum high density lipoprotein cholesterol, is generally an autosomal recessive disorder associated with extensive atherosclerosis, xanthomas, and corneal opacities, and that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the APOA1 gene on chromosome 11q23."
    },
    "synonyms": [
        {
            "id": "DOID:0080958",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080958",
            "name": "Apolipoprotein A-I deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "hypoalphalipoproteinemia, primary, 2",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "ApoA-I and apoC-III deficiency, combined",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "HYPOALPHALIPOPROTEINEMIA, PRIMARY, 2",
            "description": ""
        },
        {
            "id": "MONDO:0032766",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "name": "hypoalphalipoproteinemia, primary, 2, with or without corneal clouding",
            "description": ""
        },
        {
            "id": "MIM:618463",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618463",
            "name": "Hypoalphalipoproteinemia, primary, 2",
            "description": "Hypoalphalipoproteinemia, primary, 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080958"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080958",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080958",
            "categories": []
        },
        {
            "id": "MONDO:0032766",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032766",
            "categories": []
        },
        {
            "id": "MIM:618463",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618463",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O42363-1",
            "uniprot_ac": "O42363",
            "uniprot_id": "APOA1_DANRE",
            "refseq_ac": "NP_571203",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein A-Ia",
                    "type": "recommended"
                },
                {
                    "name": "Apo-AIa",
                    "type": "synonym"
                },
                {
                    "name": "ApoA-Ia",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein A1",
                    "type": "synonym"
                },
                {
                    "name": "apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "apoA-I",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-Ia precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A1",
                    "type": "synonym"
                },
                {
                    "name": "etID309895.5",
                    "type": "synonym"
                },
                {
                    "name": "etID32161.5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apoa1a",
                    "type": "recommended"
                },
                {
                    "name": "Apo-AIa",
                    "type": "synonym"
                },
                {
                    "name": "ApoA-Ia",
                    "type": "synonym"
                },
                {
                    "name": "apoa1a",
                    "type": "synonym"
                },
                {
                    "name": "apoa1",
                    "type": "synonym"
                },
                {
                    "name": "apoa",
                    "type": "synonym"
                },
                {
                    "name": "cb49",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb33f01",
                    "type": "synonym"
                },
                {
                    "name": "zgc:103718",
                    "type": "synonym"
                }
            ],
            "record_id": "O42363-1",
            "evidence": [
                {
                    "id": "0080958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IKF0-1",
            "uniprot_ac": "A0A0R4IKF0",
            "uniprot_id": "A0A0R4IKF0_DANRE",
            "refseq_ac": "NP_001093614",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein A-Ib precursor",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-Ib precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "apoa1b",
                    "type": "recommended"
                },
                {
                    "name": "apoa1b",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb66d03",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd19c08",
                    "type": "synonym"
                },
                {
                    "name": "xx:sd49",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IKF0-1",
            "evidence": [
                {
                    "id": "0080958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00623-1",
            "uniprot_ac": "Q00623",
            "uniprot_id": "APOA1_MOUSE",
            "refseq_ac": "NP_033822",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein A-I",
                    "type": "recommended"
                },
                {
                    "name": "Apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "ApoA-I",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein A1",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoa1",
                    "type": "recommended"
                },
                {
                    "name": "Alp-1",
                    "type": "synonym"
                },
                {
                    "name": "Apoa-1",
                    "type": "synonym"
                },
                {
                    "name": "Apoa1",
                    "type": "synonym"
                },
                {
                    "name": "Brp-14",
                    "type": "synonym"
                },
                {
                    "name": "Ltw-1",
                    "type": "synonym"
                },
                {
                    "name": "Lvtw-1",
                    "type": "synonym"
                },
                {
                    "name": "Sep-1",
                    "type": "synonym"
                },
                {
                    "name": "Sep-2",
                    "type": "synonym"
                },
                {
                    "name": "Sep2",
                    "type": "synonym"
                },
                {
                    "name": "apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "apoA-I",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00623-1",
            "evidence": [
                {
                    "id": "0080958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P02647-1",
            "uniprot_ac": "P02647",
            "uniprot_id": "APOA1_HUMAN",
            "refseq_ac": "NP_000030",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein A-I",
                    "type": "recommended"
                },
                {
                    "name": "Apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "ApoA-I",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein A-I(1-242)",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein A1",
                    "type": "synonym"
                },
                {
                    "name": "apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "APOA1",
                    "type": "recommended"
                },
                {
                    "name": "AMYLD3",
                    "type": "synonym"
                },
                {
                    "name": "APOA1",
                    "type": "synonym"
                },
                {
                    "name": "HPALP2",
                    "type": "synonym"
                },
                {
                    "name": "apo(a)",
                    "type": "synonym"
                }
            ],
            "record_id": "P02647-1",
            "evidence": [
                {
                    "id": "618463",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618463"
                },
                {
                    "id": "0080958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080958"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04639-1",
            "uniprot_ac": "P04639",
            "uniprot_id": "APOA1_RAT",
            "refseq_ac": "NP_036870",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Apolipoprotein A-I",
                    "type": "recommended"
                },
                {
                    "name": "Apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "ApoA-I",
                    "type": "synonym"
                },
                {
                    "name": "Apolipoprotein A1",
                    "type": "synonym"
                },
                {
                    "name": "apo-AI",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-1",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "apolipoprotein A-I",
                    "type": "synonym"
                },
                {
                    "name": "preproapolipoprotein A-I",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Apoa1",
                    "type": "recommended"
                },
                {
                    "name": "Apoa1",
                    "type": "synonym"
                },
                {
                    "name": "apoA-I",
                    "type": "synonym"
                }
            ],
            "record_id": "P04639-1",
            "evidence": [
                {
                    "id": "0080958",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080958"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080958"
}