{
    "disease_id": "DOID:0060357",
    "recommended_name": {
        "id": "DOID:0060357",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060357",
        "name": "chylomicron retention disease",
        "description": "A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1."
    },
    "synonyms": [
        {
            "id": "DOID:0060357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060357",
            "name": "Anderson disease",
            "description": ""
        },
        {
            "id": "DOID:0060357",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060357",
            "name": "CMRD",
            "description": ""
        },
        {
            "id": "MONDO:0009528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "name": "chylomicron retention disease",
            "description": "Chylomicron retention disease (CRD) is a type of familial hypocholesterolemia characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and hepatic, neurologic and ophthalmologic complications."
        },
        {
            "id": "MONDO:0009528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "name": "Anderson disease",
            "description": ""
        },
        {
            "id": "MONDO:0009528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "name": "CMRD",
            "description": ""
        },
        {
            "id": "MONDO:0009528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "name": "CRD",
            "description": ""
        },
        {
            "id": "MONDO:0009528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "name": "chylomicron retention disease",
            "description": ""
        },
        {
            "id": "MONDO:0009528",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "name": "hypobetalipoproteinemia with accumulation of apolipoprotein B-like protein in intestinal cells",
            "description": ""
        },
        {
            "id": "MIM:246700",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/246700",
            "name": "Chylomicron retention disease",
            "description": "Chylomicron retention disease"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060357"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060357",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060357",
            "categories": []
        },
        {
            "id": "MONDO:0009528",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009528",
            "categories": []
        },
        {
            "id": "MIM:246700",
            "database": "MIM",
            "url": "https://www.omim.org/entry/246700",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RHH5-1",
            "uniprot_ac": "A0A8M1RHH5",
            "uniprot_id": "A0A8M1RHH5_DANRE",
            "refseq_ac": "XP_021335022",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol transfer protein alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "phosphatidylinositol transfer protein alpha isoform",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pitpnab",
                    "type": "recommended"
                },
                {
                    "name": "pitpnab",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RHH5-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53810-1",
            "uniprot_ac": "P53810",
            "uniprot_id": "PIPNA_MOUSE",
            "refseq_ac": "NP_032876",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol transfer protein alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "PI-TP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Pitp alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdInsTP alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transfer protein alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdInsTP alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitpna",
                    "type": "recommended"
                },
                {
                    "name": "Pitpna",
                    "type": "synonym"
                },
                {
                    "name": "Pitpn",
                    "type": "synonym"
                },
                {
                    "name": "vb",
                    "type": "synonym"
                },
                {
                    "name": "vibrator",
                    "type": "synonym"
                }
            ],
            "record_id": "P53810-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9CQC9-1",
            "uniprot_ac": "Q9CQC9",
            "uniprot_id": "SAR1B_MOUSE",
            "refseq_ac": "NP_079811",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small COPII coat GTPase SAR1B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein SAR1b",
                    "type": "synonym"
                },
                {
                    "name": "SAR1 gene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "SAR1a gene homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "SAR1b gene homolog",
                    "type": "synonym"
                },
                {
                    "name": "small COPII coat GTPase SAR1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sar1b",
                    "type": "recommended"
                },
                {
                    "name": "2310075M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "2900019I22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CMRD",
                    "type": "synonym"
                },
                {
                    "name": "Sar1b",
                    "type": "synonym"
                },
                {
                    "name": "Sara1b",
                    "type": "synonym"
                },
                {
                    "name": "Sara2",
                    "type": "synonym"
                },
                {
                    "name": "Sarb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CQC9-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y6B6-1",
            "uniprot_ac": "Q9Y6B6",
            "uniprot_id": "SAR1B_HUMAN",
            "refseq_ac": "NP_001028675",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small COPII coat GTPase SAR1B",
                    "type": "recommended"
                },
                {
                    "name": "2310075M17Rik",
                    "type": "synonym"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTBPB",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein B",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein SAR1b",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein Sara",
                    "type": "synonym"
                },
                {
                    "name": "SAR1 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "SAR1a gene homolog 2",
                    "type": "synonym"
                },
                {
                    "name": "Secretion-associated Ras-related GTPase 1B",
                    "type": "synonym"
                },
                {
                    "name": "small COPII coat GTPase SAR1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAR1B",
                    "type": "recommended"
                },
                {
                    "name": "ANDD",
                    "type": "synonym"
                },
                {
                    "name": "CMRD",
                    "type": "synonym"
                },
                {
                    "name": "GTBPB",
                    "type": "synonym"
                },
                {
                    "name": "SAR1B",
                    "type": "synonym"
                },
                {
                    "name": "SARA2",
                    "type": "synonym"
                },
                {
                    "name": "SARB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y6B6-1",
            "evidence": [
                {
                    "id": "246700",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/246700"
                },
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20606-1",
            "uniprot_ac": "P20606",
            "uniprot_id": "SAR1_YEAST",
            "refseq_ac": "NP_015106",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small COPII coat GTPase SAR1",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.-",
                    "type": "synonym"
                },
                {
                    "name": "Arf family GTPase SAR1",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein SAR1",
                    "type": "synonym"
                },
                {
                    "name": "Secretion-associated RAS-related protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SAR1",
                    "type": "recommended"
                },
                {
                    "name": "SAR1",
                    "type": "synonym"
                }
            ],
            "record_id": "P20606-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5HZY2-1",
            "uniprot_ac": "Q5HZY2",
            "uniprot_id": "SAR1B_RAT",
            "refseq_ac": "NP_001009622",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small COPII coat GTPase SAR1B",
                    "type": "recommended"
                },
                {
                    "name": "3.6.5.2",
                    "type": "synonym"
                },
                {
                    "name": "GTP-binding protein SAR1b",
                    "type": "synonym"
                },
                {
                    "name": "SAR1 gene homolog B",
                    "type": "synonym"
                },
                {
                    "name": "SAR1 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "small COPII coat GTPase SAR1B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sar1b",
                    "type": "recommended"
                },
                {
                    "name": "SARA1B",
                    "type": "synonym"
                },
                {
                    "name": "Sar1b",
                    "type": "synonym"
                },
                {
                    "name": "Sara2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5HZY2-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16446-1",
            "uniprot_ac": "P16446",
            "uniprot_id": "PIPNA_RAT",
            "refseq_ac": "NP_058927",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol transfer protein alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "PI-TP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdInsTP alpha",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transfer protein alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdInsTP alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pitpna",
                    "type": "recommended"
                },
                {
                    "name": "Pitpna",
                    "type": "synonym"
                },
                {
                    "name": "Pitpn",
                    "type": "synonym"
                }
            ],
            "record_id": "P16446-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VD29-1",
            "uniprot_ac": "Q9VD29",
            "uniprot_id": "Q9VD29_DROME",
            "refseq_ac": "NP_732717",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG7073-PA",
                    "type": "synonym"
                },
                {
                    "name": "Sar1 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sar1-PA",
                    "type": "synonym"
                },
                {
                    "name": "Secretion-associated Ras-related 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Secretion-associated Ras-related 1, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "Secretion-associated Ras-related 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "Secretion-associated Ras-related 1, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "dendritic arbor reduction 3",
                    "type": "synonym"
                },
                {
                    "name": "sar1",
                    "type": "synonym"
                },
                {
                    "name": "secretion-associated RAS-related 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sar1",
                    "type": "recommended"
                },
                {
                    "name": "5712",
                    "type": "synonym"
                },
                {
                    "name": "CG7073",
                    "type": "synonym"
                },
                {
                    "name": "Dar-3",
                    "type": "synonym"
                },
                {
                    "name": "Dar3",
                    "type": "synonym"
                },
                {
                    "name": "Dm Sar1",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7073",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7073",
                    "type": "synonym"
                },
                {
                    "name": "NP_732719",
                    "type": "synonym"
                },
                {
                    "name": "Q95SY7",
                    "type": "synonym"
                },
                {
                    "name": "SAR1",
                    "type": "synonym"
                },
                {
                    "name": "Sar1",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Liang-1.48",
                    "type": "synonym"
                },
                {
                    "name": "bro5",
                    "type": "synonym"
                },
                {
                    "name": "clone 1.48",
                    "type": "synonym"
                },
                {
                    "name": "dar3",
                    "type": "synonym"
                },
                {
                    "name": "dsar1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)05712",
                    "type": "synonym"
                },
                {
                    "name": "sar1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VD29-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0B4KGG5-1",
            "uniprot_ac": "A0A0B4KGG5",
            "uniprot_id": "A0A0B4KGG5_DROME",
            "refseq_ac": "NP_001262726",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5269-PB",
                    "type": "synonym"
                },
                {
                    "name": "PITP",
                    "type": "synonym"
                },
                {
                    "name": "Vibrator, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "giotto",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S045002c",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) S110416",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) j5A6",
                    "type": "synonym"
                },
                {
                    "name": "vib-PB",
                    "type": "synonym"
                },
                {
                    "name": "vibrator, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "vibrator",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vib",
                    "type": "recommended"
                },
                {
                    "name": "02",
                    "type": "synonym"
                },
                {
                    "name": "0450/02",
                    "type": "synonym"
                },
                {
                    "name": "1104/16",
                    "type": "synonym"
                },
                {
                    "name": "16",
                    "type": "synonym"
                },
                {
                    "name": "CG5269",
                    "type": "synonym"
                },
                {
                    "name": "Dm-PITPalpha",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5269",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5269",
                    "type": "synonym"
                },
                {
                    "name": "Gio",
                    "type": "synonym"
                },
                {
                    "name": "PITP-DM",
                    "type": "synonym"
                },
                {
                    "name": "PITP",
                    "type": "synonym"
                },
                {
                    "name": "Vib",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0142479.3",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.12",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.16",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.28",
                    "type": "synonym"
                },
                {
                    "name": "giotto",
                    "type": "synonym"
                },
                {
                    "name": "gio",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S045002c",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S045002",
                    "type": "synonym"
                },
                {
                    "name": "l(3)S110416",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j4A3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j5A6",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j7A3",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j7C8",
                    "type": "synonym"
                },
                {
                    "name": "vib",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0B4KGG5-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q00169-1",
            "uniprot_ac": "Q00169",
            "uniprot_id": "PIPNA_HUMAN",
            "refseq_ac": "NP_006215",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol transfer protein alpha isoform",
                    "type": "recommended"
                },
                {
                    "name": "PI-TP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdIns transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "PtdInsTP alpha",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory protein Li 36",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol transfer protein alpha isoform",
                    "type": "synonym"
                },
                {
                    "name": "ptdIns transfer protein alpha",
                    "type": "synonym"
                },
                {
                    "name": "ptdInsTP alpha",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PITPNA",
                    "type": "recommended"
                },
                {
                    "name": "HEL-S-36",
                    "type": "synonym"
                },
                {
                    "name": "PI-TPalpha",
                    "type": "synonym"
                },
                {
                    "name": "PITPNA",
                    "type": "synonym"
                },
                {
                    "name": "PITPN",
                    "type": "synonym"
                },
                {
                    "name": "VIB1A",
                    "type": "synonym"
                }
            ],
            "record_id": "Q00169-1",
            "evidence": [
                {
                    "id": "0060357",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060357"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060357"
}