{
    "disease_id": "DOID:0111420",
    "recommended_name": {
        "id": "DOID:0111420",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111420",
        "name": "familial GPIHBP1 deficiency",
        "description": "A familial chylomicronemia syndrome characterized by refactory fasting hyperchylomicronemia, and elevated plasma triglyceride levels that has_material_basis_in homozygous or compound heterozygous mutation in the GPIHBP1 gene on chromosome 8q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "name": "familial glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "name": "hyperlipoproteinemia type 1D",
            "description": ""
        },
        {
            "id": "DOID:0111420",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "name": "hyperlipoproteinemia type ID",
            "description": ""
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "hyperlipoproteinemia, type 1D",
            "description": "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene."
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "GPIHBP1 familial hyperlipidemia",
            "description": ""
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "familial hyperlipidemia caused by mutation in GPIHBP1",
            "description": ""
        },
        {
            "id": "MONDO:0014412",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "name": "hyperlipoproteinemia, type 1D",
            "description": ""
        },
        {
            "id": "MIM:615947",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615947",
            "name": "Hyperlipoproteinemia 1D",
            "description": "Hyperlipoproteinemia 1D"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111420"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111420",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111420",
            "categories": []
        },
        {
            "id": "MONDO:0014412",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014412",
            "categories": []
        },
        {
            "id": "MIM:615947",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615947",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9D1N2-1",
            "uniprot_ac": "Q9D1N2",
            "uniprot_id": "HDBP1_MOUSE",
            "refseq_ac": "NP_081006",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GPI-HBP1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchored HDL-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "High density lipoprotein-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpihbp1",
                    "type": "recommended"
                },
                {
                    "name": "1110002J19Rik",
                    "type": "synonym"
                },
                {
                    "name": "GPI-HBP1",
                    "type": "synonym"
                },
                {
                    "name": "Gpihbp1",
                    "type": "synonym"
                },
                {
                    "name": "Hbp1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9D1N2-1",
            "evidence": [
                {
                    "id": "0111420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IV16-1",
            "uniprot_ac": "Q8IV16",
            "uniprot_id": "HDBP1_HUMAN",
            "refseq_ac": "NP_001288701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1",
                    "type": "recommended"
                },
                {
                    "name": "GPI anchored high density lipoprotein binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-HBP1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchored HDL-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "High density lipoprotein-binding protein 1",
                    "type": "synonym"
                },
                {
                    "name": "endothelial cell LPL transporter",
                    "type": "synonym"
                },
                {
                    "name": "glycosylphosphatidylinositol-anchored high density lipoprotein-binding protein 1 isoform 2 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPIHBP1",
                    "type": "recommended"
                },
                {
                    "name": "GPI-HBP1",
                    "type": "synonym"
                },
                {
                    "name": "GPIHBP1",
                    "type": "synonym"
                },
                {
                    "name": "HBP1",
                    "type": "synonym"
                },
                {
                    "name": "HYPL1D",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IV16-1",
            "evidence": [
                {
                    "id": "615947",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615947"
                },
                {
                    "id": "0111420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111420"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LQM7-1",
            "uniprot_ac": "A0ABK0LQM7",
            "uniprot_id": "A0ABK0LQM7_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glycosylphosphatidylinositol anchored high density lipoprotein binding protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gpihbp1",
                    "type": "recommended"
                }
            ],
            "record_id": "A0ABK0LQM7-1",
            "evidence": [
                {
                    "id": "0111420",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111420"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111420"
}