{
    "disease_id": "DOID:0050763",
    "recommended_name": {
        "id": "DOID:0050763",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050763",
        "name": "ARC syndrome",
        "description": "A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3."
    },
    "synonyms": [
        {
            "id": "DOID:0050763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "name": "ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS",
            "description": ""
        },
        {
            "id": "DOID:0050763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "name": "Arthrogryposis-renal dysfunction-cholestasis",
            "description": ""
        },
        {
            "id": "DOID:0050763",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "name": "Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis, renal dysfunction, and cholestasis 1",
            "description": "Any arthrogryposis-renal dysfunction-cholestasis syndrome in which the cause of the disease is a mutation in the VPS33B gene."
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis, renal dysfunction, and cholestasis 1",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis, renal dysfunction, and cholestasis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B",
            "description": ""
        },
        {
            "id": "MONDO:0008822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "name": "ARCS1",
            "description": ""
        },
        {
            "id": "MIM:208085",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/208085",
            "name": "Arthrogryposis, renal dysfunction, and cholestasis 1",
            "description": "Arthrogryposis, renal dysfunction, and cholestasis 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0111353",
            "label": "arthrogryposis, renal dysfunction, and cholestasis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111354",
            "label": "arthrogryposis, renal dysfunction, and cholestasis 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0111353",
        "DOID:0111354",
        "DOID:0050763"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050763",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050763",
            "categories": []
        },
        {
            "id": "MONDO:0008822",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008822",
            "categories": []
        },
        {
            "id": "MIM:208085",
            "database": "MIM",
            "url": "https://www.omim.org/entry/208085",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q58EN8-1",
            "uniprot_ac": "Q58EN8",
            "uniprot_id": "VP33B_DANRE",
            "refseq_ac": "NP_001014370",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting 33B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar sorting protein 33b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vps33b",
                    "type": "recommended"
                },
                {
                    "name": "vps33b",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110803",
                    "type": "synonym"
                }
            ],
            "record_id": "Q58EN8-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5TYV4-1",
            "uniprot_ac": "Q5TYV4",
            "uniprot_id": "SPE39_DANRE",
            "refseq_ac": "NP_001001836",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-defective protein 39 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS33B-interacting protein in apical-basolateral polarity regulator",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B-interacting protein in polarity and apical restriction",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                },
                {
                    "name": "protein spe-39 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "vipas39",
                    "type": "recommended"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-20b12.1",
                    "type": "synonym"
                },
                {
                    "name": "spe39",
                    "type": "synonym"
                },
                {
                    "name": "vipar",
                    "type": "synonym"
                },
                {
                    "name": "vipas39",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb63f10",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5TYV4-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGQ1-1",
            "uniprot_ac": "Q8BGQ1",
            "uniprot_id": "SPE39_MOUSE",
            "refseq_ac": "NP_001136052",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-defective protein 39 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS33B-interacting protein in apical-basolateral polarity regulator",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B-interacting protein in polarity and apical restriction",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                },
                {
                    "name": "protein spe-39 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog isoform a",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vipas39",
                    "type": "recommended"
                },
                {
                    "name": "6720456H09Rik",
                    "type": "synonym"
                },
                {
                    "name": "9330175H22Rik",
                    "type": "synonym"
                },
                {
                    "name": "SPE-39",
                    "type": "synonym"
                },
                {
                    "name": "Spe39",
                    "type": "synonym"
                },
                {
                    "name": "Vipar",
                    "type": "synonym"
                },
                {
                    "name": "Vipas39",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGQ1-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P59016-1",
            "uniprot_ac": "P59016",
            "uniprot_id": "VP33B_MOUSE",
            "refseq_ac": "NP_835171",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
                    "type": "recommended"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps33b",
                    "type": "recommended"
                },
                {
                    "name": "Vps33b",
                    "type": "synonym"
                }
            ],
            "record_id": "P59016-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H267-1",
            "uniprot_ac": "Q9H267",
            "uniprot_id": "VP33B_HUMAN",
            "refseq_ac": "NP_001276078",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
                    "type": "recommended"
                },
                {
                    "name": "hVPS33B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33-like protein B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS33B",
                    "type": "recommended"
                },
                {
                    "name": "KDIDAR",
                    "type": "synonym"
                },
                {
                    "name": "PFIC12",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H267-1",
            "evidence": [
                {
                    "id": "208085",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/208085"
                },
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20795-1",
            "uniprot_ac": "P20795",
            "uniprot_id": "VPS33_YEAST",
            "refseq_ac": "NP_013500",
            "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": "Vacuolar protein sorting-associated protein 33",
                    "type": "recommended"
                },
                {
                    "name": "Protein SLP1",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar morphogenesis protein 5",
                    "type": "synonym"
                },
                {
                    "name": "tethering complex ATP-binding subunit VPS33",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VPS33",
                    "type": "recommended"
                },
                {
                    "name": "CLS14",
                    "type": "synonym"
                },
                {
                    "name": "L8084.15",
                    "type": "synonym"
                },
                {
                    "name": "MET27",
                    "type": "synonym"
                },
                {
                    "name": "PEP14",
                    "type": "synonym"
                },
                {
                    "name": "SLP1",
                    "type": "synonym"
                },
                {
                    "name": "VAM5",
                    "type": "synonym"
                },
                {
                    "name": "VPL25",
                    "type": "synonym"
                },
                {
                    "name": "VPS33",
                    "type": "synonym"
                },
                {
                    "name": "VPT33",
                    "type": "synonym"
                }
            ],
            "record_id": "P20795-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQN6-1",
            "uniprot_ac": "Q5PQN6",
            "uniprot_id": "SPE39_RAT",
            "refseq_ac": "NP_001094474",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-defective protein 39 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS33B-interacting protein in apical-basolateral polarity regulator",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B-interacting protein in polarity and apical restriction",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                },
                {
                    "name": "protein spe-39 homolog",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vipas39",
                    "type": "recommended"
                },
                {
                    "name": "Spe39",
                    "type": "synonym"
                },
                {
                    "name": "Vipar",
                    "type": "synonym"
                },
                {
                    "name": "Vipas39",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQN6-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q63616-1",
            "uniprot_ac": "Q63616",
            "uniprot_id": "VP33B_RAT",
            "refseq_ac": "NP_071622",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
                    "type": "recommended"
                },
                {
                    "name": "r-vps33b",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33 homolog B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33B",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting homolog r-vps33b",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps33b",
                    "type": "recommended"
                },
                {
                    "name": "Vps33b",
                    "type": "synonym"
                }
            ],
            "record_id": "Q63616-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VBR1-1",
            "uniprot_ac": "Q9VBR1",
            "uniprot_id": "Q9VBR1_DROME",
            "refseq_ac": "NP_651395",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG5127-PA",
                    "type": "synonym"
                },
                {
                    "name": "Vacuolar protein sorting 33B",
                    "type": "synonym"
                },
                {
                    "name": "Vps33B-PA",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 33B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps33B",
                    "type": "recommended"
                },
                {
                    "name": "CG5127",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5127",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5127",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B",
                    "type": "synonym"
                },
                {
                    "name": "VPS33b",
                    "type": "synonym"
                },
                {
                    "name": "Vps 33B",
                    "type": "synonym"
                },
                {
                    "name": "Vps33B",
                    "type": "synonym"
                },
                {
                    "name": "Vps33b",
                    "type": "synonym"
                },
                {
                    "name": "dVps33B",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VBR1-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VAG4-1",
            "uniprot_ac": "Q9VAG4",
            "uniprot_id": "VP16B_DROME",
            "refseq_ac": "NP_651731",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Vacuolar protein sorting-associated protein 16B",
                    "type": "recommended"
                },
                {
                    "name": "CG18112-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein full-of-bacteria",
                    "type": "synonym"
                },
                {
                    "name": "Vps16B-PA",
                    "type": "synonym"
                },
                {
                    "name": "full-of-bacteria",
                    "type": "synonym"
                },
                {
                    "name": "vacuolar protein sorting 16B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Vps16B",
                    "type": "recommended"
                },
                {
                    "name": "CG18112",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18112",
                    "type": "synonym"
                },
                {
                    "name": "Vps16B",
                    "type": "synonym"
                },
                {
                    "name": "Vps16b",
                    "type": "synonym"
                },
                {
                    "name": "dVps16B",
                    "type": "synonym"
                },
                {
                    "name": "fob",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VAG4-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9H9C1-1",
            "uniprot_ac": "Q9H9C1",
            "uniprot_id": "SPE39_HUMAN",
            "refseq_ac": "NP_001180243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Spermatogenesis-defective protein 39 homolog",
                    "type": "recommended"
                },
                {
                    "name": "VPS33B-interacting protein in apical-basolateral polarity regulator",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B-interacting protein in polarity and apical restriction",
                    "type": "synonym"
                },
                {
                    "name": "VPS33B-interacting protein involved in polarity and apical protein restriction",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "spermatogenesis-defective protein 39 homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "VIPAS39",
                    "type": "recommended"
                },
                {
                    "name": "C14orf133",
                    "type": "synonym"
                },
                {
                    "name": "SPE-39",
                    "type": "synonym"
                },
                {
                    "name": "SPE39",
                    "type": "synonym"
                },
                {
                    "name": "VIPAR",
                    "type": "synonym"
                },
                {
                    "name": "VIPAS39",
                    "type": "synonym"
                },
                {
                    "name": "VPS16B",
                    "type": "synonym"
                },
                {
                    "name": "hSPE-39",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9H9C1-1",
            "evidence": [
                {
                    "id": "0050763",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050763"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050763"
}