{
    "disease_id": "DOID:0070221",
    "recommended_name": {
        "id": "DOID:0070221",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070221",
        "name": "progressive familial intrahepatic cholestasis",
        "description": "An intrahepatic cholestasis characterized by early onset of chronic unremitting cholestasis of hepatocellular origin that progresses to hepatic fibrosis, cirrhosis, and end-stage liver disease before adulthood."
    },
    "synonyms": [
        {
            "id": "DOID:0070221",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070221",
            "name": "Byler disease",
            "description": ""
        },
        {
            "id": "DOID:0070221",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070221",
            "name": "PFIC",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "progressive familial intrahepatic cholestasis type 1",
            "description": "PFIC1, a type of progressive familial intrahepathic cholestasis (PFIC), is an infantile hereditary disorder in bile formation that is hepatocellular in origin and associated with extrahepatic features."
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "Byler disease",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "FIC1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "PFIC1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "Byler's disease",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, fatal intrahepatic",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "cholestasis, progressive familial intrahepatic, 1",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "progressive familial intrahepatic cholestasis",
            "description": ""
        },
        {
            "id": "MONDO:0008892",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "name": "severe ATP8B1 deficiency",
            "description": ""
        },
        {
            "id": "MIM:211600",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/211600",
            "name": "Cholestasis, progressive familial intrahepatic, 1",
            "description": "Cholestasis, progressive familial intrahepatic, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0070222",
            "label": "progressive familial intrahepatic cholestasis 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070223",
            "label": "progressive familial intrahepatic cholestasis 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070224",
            "label": "progressive familial intrahepatic cholestasis 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070225",
            "label": "progressive familial intrahepatic cholestasis 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070226",
            "label": "progressive familial intrahepatic cholestasis 1",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070226",
        "DOID:0070221",
        "DOID:0070223",
        "DOID:0070222",
        "DOID:0070224",
        "DOID:0070225"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070221",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070221",
            "categories": []
        },
        {
            "id": "MONDO:0008892",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0008892",
            "categories": []
        },
        {
            "id": "MIM:211600",
            "database": "MIM",
            "url": "https://www.omim.org/entry/211600",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "E7FBE1",
            "uniprot_id": "E7FBE1_DANRE",
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                    "taxid": 7955,
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                }
            ],
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                {
                    "name": "Semaphorin-7A isoform 1 precursor",
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                },
                {
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                    "type": "synonym"
                }
            ],
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                    "name": "sema7a",
                    "type": "recommended"
                },
                {
                    "name": "fc47g07",
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                },
                {
                    "name": "sema7a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc47g07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:174881",
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                }
            ],
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                    "id": "0070221",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
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            "uniprot_ac": "Q66I08",
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                    "common_name": "Zebrafish",
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                    "reference_species": "Danio rerio [7955]"
                }
            ],
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                    "name": "Organic solute transporter subunit alpha",
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                },
                {
                    "name": "OST-alpha",
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                },
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                    "name": "Solute carrier family 51 subunit alpha",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 51 alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 51 subunit alpha",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "slc51a",
                    "type": "recommended"
                },
                {
                    "name": "OST-alpha",
                    "type": "synonym"
                },
                {
                    "name": "fb57f06",
                    "type": "synonym"
                },
                {
                    "name": "osta",
                    "type": "synonym"
                },
                {
                    "name": "slc51a",
                    "type": "synonym"
                },
                {
                    "name": "wu:fb57f06",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92111",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
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            "refseq_ac": "XP_005171014",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "inactive ubiquitin carboxyl-terminal hydrolase 53 isoform X1",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "usp53b",
                    "type": "recommended"
                },
                {
                    "name": "usp53b",
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                }
            ],
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                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M9P3E4-1",
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            "refseq_ac": "XP_021324562",
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                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Vb",
                    "type": "recommended"
                },
                {
                    "name": "unconventional myosin-Vb isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "myo5b",
                    "type": "recommended"
                },
                {
                    "name": "cb1077",
                    "type": "synonym"
                },
                {
                    "name": "myo5b",
                    "type": "synonym"
                },
                {
                    "name": "si:ch73-112l6.5",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9P3E4-1",
            "evidence": [
                {
                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q58EN8-1",
            "uniprot_ac": "Q58EN8",
            "uniprot_id": "VP33B_DANRE",
            "refseq_ac": "NP_001014370",
            "glycoprotein": "no",
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                {
                    "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": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7FFK0-1",
            "uniprot_ac": "E7FFK0",
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            "refseq_ac": "XP_001920510",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phospholipid-transporting ATPase",
                    "type": "recommended"
                },
                {
                    "name": "7.6.2.1",
                    "type": "synonym"
                },
                {
                    "name": "phospholipid-transporting ATPase IC",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp8b1",
                    "type": "recommended"
                },
                {
                    "name": "atp8b1",
                    "type": "synonym"
                }
            ],
            "record_id": "E7FFK0-1",
            "evidence": [
                {
                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9D2Z8-1",
            "uniprot_ac": "Q9D2Z8",
            "uniprot_id": "KIF12_MOUSE",
            "refseq_ac": "NP_034746",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Kinesin-like protein KIF12",
                    "type": "recommended"
                },
                {
                    "name": "N-9 kinesin",
                    "type": "synonym"
                },
                {
                    "name": "kinesin 12",
                    "type": "synonym"
                },
                {
                    "name": "kinesin superfamily protein 12",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF12 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "kinesin-like protein KIF12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kif12",
                    "type": "recommended"
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                {
                    "name": "Kif12",
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                }
            ],
            "record_id": "Q9D2Z8-1",
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                {
                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QUR8-1",
            "uniprot_ac": "Q9QUR8",
            "uniprot_id": "SEM7A_MOUSE",
            "refseq_ac": "NP_035482",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Semaphorin-7A",
                    "type": "recommended"
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                {
                    "name": "Sema K1",
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                },
                {
                    "name": "Sema L",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-K1",
                    "type": "synonym"
                },
                {
                    "name": "Semaphorin-L",
                    "type": "synonym"
                },
                {
                    "name": "semaphorin-7A precursor",
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                },
                {
                    "name": "semaphorin-7A",
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                {
                    "name": "semaphorin-K1",
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                }
            ],
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                {
                    "name": "Sema7a",
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                },
                {
                    "name": "2900057C09Rik",
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                },
                {
                    "name": "CDw108",
                    "type": "synonym"
                },
                {
                    "name": "Cd108",
                    "type": "synonym"
                },
                {
                    "name": "H-Sema K1",
                    "type": "synonym"
                },
                {
                    "name": "H-Sema-L",
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                },
                {
                    "name": "M-Sema-L",
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                },
                {
                    "name": "Sema7a",
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                {
                    "name": "Semal",
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                },
                {
                    "name": "Semk1",
                    "type": "synonym"
                },
                {
                    "name": "sema K1",
                    "type": "synonym"
                },
                {
                    "name": "sema L",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QUR8-1",
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                {
                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
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                }
            ],
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                    "name": "Organic solute transporter subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "OST-alpha",
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                {
                    "name": "Solute carrier family 51 subunit alpha",
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                },
                {
                    "name": "organic solute transporter alpha",
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                },
                {
                    "name": "organic solute transporter subunit alpha",
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                {
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                }
            ],
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                    "name": "Slc51a",
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                {
                    "name": "D630035O19Rik",
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                {
                    "name": "OSTalpha",
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                {
                    "name": "Osta",
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                {
                    "name": "Slc51a",
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                }
            ],
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                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
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        {
            "uniprot_canonical_ac": "Q9DAZ9-1",
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                    "name": "Mus musculus",
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                    "common_name": "Mouse",
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                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Abscission/NoCut checkpoint regulator",
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                    "name": "ANCHR",
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                },
                {
                    "name": "Zinc finger FYVE domain-containing protein 19",
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                },
                {
                    "name": "abscission/NoCut checkpoint regulator isoform 1",
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                {
                    "name": "abscission/NoCut checkpoint regulator",
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                {
                    "name": "zinc finger FYVE domain-containing protein 19",
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                    "name": "Zfyve19",
                    "type": "recommended"
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                    "name": "1500041L05Rik",
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                },
                {
                    "name": "ANCHR",
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                },
                {
                    "name": "Anchr",
                    "type": "synonym"
                },
                {
                    "name": "Zfyve19",
                    "type": "synonym"
                }
            ],
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            "evidence": [
                {
                    "id": "0070221",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P15975-1",
            "uniprot_ac": "P15975",
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            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ubiquitin carboxyl-terminal hydrolase 53",
                    "type": "recommended"
                },
                {
                    "name": "3.4.19.12",
                    "type": "synonym"
                },
                {
                    "name": "Per-hexamer repeat protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Protein mambo",
                    "type": "synonym"
                },
                {
                    "name": "Ubiquitin-specific peptidase 53",
                    "type": "synonym"
                },
                {
                    "name": "inactive ubiquitin carboxyl-terminal hydrolase 53",
                    "type": "synonym"
                },
                {
                    "name": "inactive ubiquitin-specific peptidase 53",
                    "type": "synonym"
                },
                {
                    "name": "per-hexamer repeat gene 3",
                    "type": "synonym"
                },
                {
                    "name": "per-hexamer repeat protein 3",
                    "type": "synonym"
                },
                {
                    "name": "protein mambo",
                    "type": "synonym"
                },
                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 53 isoform 2",
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                },
                {
                    "name": "ubiquitin specific protease 53",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Usp53",
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                },
                {
                    "name": "Phxr3",
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                {
                    "name": "Sp6",
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                },
                {
                    "name": "Usp53",
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                },
                {
                    "name": "mKIAA1350",
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                },
                {
                    "name": "mbo",
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                }
            ],
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                {
                    "id": "0070221",
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            ]
        },
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                {
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                }
            ],
            "protein_names": [
                {
                    "name": "Unconventional myosin-Vb",
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                }
            ],
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                {
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                {
                    "name": "Kiaa1119",
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            ],
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            ]
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                }
            ],
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                {
                    "name": "Vacuolar protein sorting-associated protein 33B",
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                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B isoform 1",
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                },
                {
                    "name": "vacuolar protein sorting-associated protein 33B",
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                }
            ],
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                {
                    "name": "Vps33b",
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                {
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            ],
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                    "id": "0070221",
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            ],
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                {
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                {
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                {
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                {
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                {
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                {
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            ],
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            ],
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                {
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                {
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            ],
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            ],
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            ],
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                    "name": "7.6.2.1",
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                {
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            "uniprot_canonical_ac": "P32492-1",
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                    "name": "Saccharomyces cerevisiae S288C",
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                }
            ],
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                {
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                },
                {
                    "name": "myosin 4",
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                }
            ],
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                {
                    "name": "FUN22",
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                    "name": "SHE1",
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            ],
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                    "id": "0070221",
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            ],
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                    "name": "Myosin-2",
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                    "name": "Cell division control protein 66",
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                {
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                {
                    "name": "Myosin V MYO2",
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                },
                {
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                {
                    "name": "myosin 2",
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                }
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                    "name": "MYO2",
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                    "name": "O6167",
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            ],
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                    "id": "0070221",
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            ]
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                {
                    "name": "Protein SLP1",
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                {
                    "name": "Vacuolar morphogenesis protein 5",
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                {
                    "name": "tethering complex ATP-binding subunit VPS33",
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                {
                    "name": "L8084.15",
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                {
                    "name": "MET27",
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                {
                    "name": "PEP14",
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                {
                    "name": "SLP1",
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                {
                    "name": "VAM5",
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                {
                    "name": "VPL25",
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                {
                    "name": "VPS33",
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                {
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                    "id": "0070221",
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            ],
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                    "name": "Kif12",
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                {
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            ],
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                {
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            ],
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                    "id": "0070221",
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            ]
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                    "name": "Semaphorin-L",
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                {
                    "name": "semaphorin 7A, GPI membrane anchor",
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                {
                    "name": "semaphorin-7A precursor",
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                {
                    "name": "semaphorin-7A",
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                {
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                {
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                    "id": "0070221",
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                {
                    "name": "inactive ubiquitin carboxyl-terminal hydrolase 53",
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                {
                    "name": "ATPase, class V, type 10D",
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                {
                    "name": "phospholipid-transporting ATPase VD",
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                    "name": "probable phospholipid-transporting ATPase VD",
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                    "id": "0070221",
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                    "name": "ATPase phospholipid transporting 10B (putative)",
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                {
                    "name": "ATPase phospholipid transporting 10B",
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                {
                    "name": "ATPase, class V, type 10B",
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                {
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                {
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                    "name": "Klp1",
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                {
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            ],
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                }
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                    "name": "CG6836-PA",
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                {
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                {
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                    "name": "Dmel\\CG6836",
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                {
                    "name": "D-Semaphorin II",
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                    "name": "Sema II",
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                {
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                {
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                {
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                    "name": "semaphorin 2a, isoform A",
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                {
                    "name": "semaphorin 2a",
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                    "name": "semaphorin II",
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                {
                    "name": "semaphorin",
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                {
                    "name": "semiphorin",
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                {
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                    "name": "Sema2a",
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                {
                    "name": "l(2)03021",
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                {
                    "name": "sema II",
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                    "name": "sema-2a",
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                    "name": "sema2a",
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            ],
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                    "id": "0070221",
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                }
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                {
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                    "id": "0070221",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0070221"
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                {
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                {
                    "name": "Ubiquitin-specific peptidase 53",
                    "type": "synonym"
                },
                {
                    "name": "inactive ubiquitin carboxyl-terminal hydrolase 53",
                    "type": "synonym"
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                {
                    "name": "inactive ubiquitin-specific peptidase 53",
                    "type": "synonym"
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                {
                    "name": "ubiquitin carboxyl-terminal hydrolase 53 isoform 1",
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                {
                    "name": "ubiquitin specific protease 53",
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                {
                    "name": "ubiquitin specific proteinase 53",
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                {
                    "name": "USP53",
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                {
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    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070221"
}