{
    "disease_id": "DOID:0060438",
    "recommended_name": {
        "id": "DOID:0060438",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060438",
        "name": "Cole-Carpenter syndrome",
        "description": "An osteogenesis imperfecta characterized by craniosynostosis, communicating hydrocephalus, ocular proptosis, marked postnatal growth failure, and distinctive facial appearance."
    },
    "synonyms": [
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome 1",
            "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the P4HB gene."
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome caused by mutation in P4HB",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "Cole-Carpenter syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "P4HB Cole-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0007204",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "name": "CLCRP1",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome 2",
            "description": "Any Cole-Carpenter syndrome in which the cause of the disease is a mutation in the SEC24D gene."
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome caused by mutation in SEC24D",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "Cole-Carpenter syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "SEC24D Cole-Carpenter syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014573",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "name": "CLCRP2",
            "description": ""
        },
        {
            "id": "MIM:112240",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/112240",
            "name": "Cole-Carpenter syndrome 1",
            "description": "Cole-Carpenter syndrome 1"
        },
        {
            "id": "MIM:616294",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616294",
            "name": "Cole-Carpenter syndrome 2",
            "description": "Cole-Carpenter syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060438"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060438",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060438",
            "categories": []
        },
        {
            "id": "MONDO:0007204",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0007204",
            "categories": []
        },
        {
            "id": "MONDO:0014573",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014573",
            "categories": []
        },
        {
            "id": "MIM:112240",
            "database": "MIM",
            "url": "https://www.omim.org/entry/112240",
            "categories": []
        },
        {
            "id": "MIM:616294",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616294",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QRB4-1",
            "uniprot_ac": "F1QRB4",
            "uniprot_id": "F1QRB4_DANRE",
            "refseq_ac": "NP_001171403",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec24D",
                    "type": "synonym"
                },
                {
                    "name": "SEC24 family, member D",
                    "type": "synonym"
                },
                {
                    "name": "bulldog",
                    "type": "synonym"
                },
                {
                    "name": "bul",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec24D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sec24d",
                    "type": "recommended"
                },
                {
                    "name": "sec24d",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QRB4-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4IPV5-1",
            "uniprot_ac": "A0A0R4IPV5",
            "uniprot_id": "A0A0R4IPV5_DANRE",
            "refseq_ac": "NP_998529",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disulfide-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.4.1",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "p4hb",
                    "type": "recommended"
                },
                {
                    "name": "p4hb",
                    "type": "synonym"
                },
                {
                    "name": "psmb3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:92596",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4IPV5-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09103-1",
            "uniprot_ac": "P09103",
            "uniprot_id": "PDIA1_MOUSE",
            "refseq_ac": "NP_035162",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disulfide-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Cellular thyroid hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "ER protein 59",
                    "type": "synonym"
                },
                {
                    "name": "ERp59",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum resident protein 59",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl 4-hydroxylase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "cellular thyroid hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum resident protein 59",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 4-hydroxylase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P4hb",
                    "type": "recommended"
                },
                {
                    "name": "ERp59",
                    "type": "synonym"
                },
                {
                    "name": "P4hb",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Pdia1",
                    "type": "synonym"
                },
                {
                    "name": "Thbp",
                    "type": "synonym"
                }
            ],
            "record_id": "P09103-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O94855-1",
            "uniprot_ac": "O94855",
            "uniprot_id": "SC24D_HUMAN",
            "refseq_ac": "NP_001304995",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein transport protein Sec24D",
                    "type": "recommended"
                },
                {
                    "name": "SEC24 homolog D, COPII coat complex component",
                    "type": "synonym"
                },
                {
                    "name": "SEC24 related gene family, member D",
                    "type": "synonym"
                },
                {
                    "name": "SEC24-related protein D",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec24D isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "protein transport protein Sec24D",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SEC24D",
                    "type": "recommended"
                },
                {
                    "name": "CLCRP2",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0755",
                    "type": "synonym"
                },
                {
                    "name": "SEC24D",
                    "type": "synonym"
                }
            ],
            "record_id": "O94855-1",
            "evidence": [
                {
                    "id": "616294",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616294"
                },
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07237-1",
            "uniprot_ac": "P07237",
            "uniprot_id": "PDIA1_HUMAN",
            "refseq_ac": "NP_000909",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disulfide-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Cellular thyroid hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl 4-hydroxylase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "cellular thyroid hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "collagen prolyl 4-hydroxylase beta",
                    "type": "synonym"
                },
                {
                    "name": "glutathione-insulin transhydrogenase",
                    "type": "synonym"
                },
                {
                    "name": "p55",
                    "type": "synonym"
                },
                {
                    "name": "procollagen-proline, 2-oxoglutarate 4-dioxygenase (proline 4-hydroxylase), beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 4-hydroxylase, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide isomerase family A, member 1",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide isomerase-associated 1",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide isomerase/oxidoreductase",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase",
                    "type": "synonym"
                },
                {
                    "name": "protocollagen hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "testicular secretory protein Li 32",
                    "type": "synonym"
                },
                {
                    "name": "thyroid hormone-binding protein p55",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P4HB",
                    "type": "recommended"
                },
                {
                    "name": "CLCRP1",
                    "type": "synonym"
                },
                {
                    "name": "DSI",
                    "type": "synonym"
                },
                {
                    "name": "ERBA2L",
                    "type": "synonym"
                },
                {
                    "name": "GIT",
                    "type": "synonym"
                },
                {
                    "name": "P4HB",
                    "type": "synonym"
                },
                {
                    "name": "P4Hbeta",
                    "type": "synonym"
                },
                {
                    "name": "PDIA1",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "PHDB",
                    "type": "synonym"
                },
                {
                    "name": "PO4DB",
                    "type": "synonym"
                },
                {
                    "name": "PO4HB",
                    "type": "synonym"
                },
                {
                    "name": "PROHB",
                    "type": "synonym"
                }
            ],
            "record_id": "P07237-1",
            "evidence": [
                {
                    "id": "112240",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/112240"
                },
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38810-1",
            "uniprot_ac": "P38810",
            "uniprot_id": "SFB3_YEAST",
            "refseq_ac": "NP_011966",
            "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": "SED5-binding protein 3",
                    "type": "recommended"
                },
                {
                    "name": "Lethal with SEC13 protein 1",
                    "type": "synonym"
                },
                {
                    "name": "SEC24-related protein 3",
                    "type": "synonym"
                },
                {
                    "name": "Sfb3p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SFB3",
                    "type": "recommended"
                },
                {
                    "name": "LST1",
                    "type": "synonym"
                },
                {
                    "name": "SFB3",
                    "type": "synonym"
                }
            ],
            "record_id": "P38810-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32474-1",
            "uniprot_ac": "P32474",
            "uniprot_id": "EUG1_YEAST",
            "refseq_ac": "NP_010806",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disulfide-isomerase EUG1",
                    "type": "recommended"
                },
                {
                    "name": "5.3.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Endoplasmic reticulum protein EUG1",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide isomerase EUG1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EUG1",
                    "type": "recommended"
                },
                {
                    "name": "D9719.23",
                    "type": "synonym"
                },
                {
                    "name": "EUG1",
                    "type": "synonym"
                }
            ],
            "record_id": "P32474-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6AII2-1",
            "uniprot_ac": "A0A8I6AII2",
            "uniprot_id": "A0A8I6AII2_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "SEC24 homolog D, COPII coat complex component",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec24d",
                    "type": "recommended"
                }
            ],
            "record_id": "A0A8I6AII2-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P04785-1",
            "uniprot_ac": "P04785",
            "uniprot_id": "PDIA1_RAT",
            "refseq_ac": "NP_037130",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disulfide-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.4.1",
                    "type": "synonym"
                },
                {
                    "name": "Cellular thyroid hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Prolyl 4-hydroxylase subunit beta",
                    "type": "synonym"
                },
                {
                    "name": "Protein disulfide isomerase (Prolyl 4-hydroxylase, beta polypeptide)",
                    "type": "synonym"
                },
                {
                    "name": "cellular thyroid hormone-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "prolyl 4-hydroxylase, beta polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide-isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "P4hb",
                    "type": "recommended"
                },
                {
                    "name": "P4hb",
                    "type": "synonym"
                },
                {
                    "name": "PDIR",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Pdia1",
                    "type": "synonym"
                }
            ],
            "record_id": "P04785-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "M9PC99-1",
            "uniprot_ac": "M9PC99",
            "uniprot_id": "M9PC99_DROME",
            "refseq_ac": "NP_001259918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG10882-PC",
                    "type": "synonym"
                },
                {
                    "name": "Sec24CD ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Sec24CD-PC",
                    "type": "synonym"
                },
                {
                    "name": "Secretory 24CD, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "ghost",
                    "type": "synonym"
                },
                {
                    "name": "secretory 24CD, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "stenosis",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sec24CD",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:LP05220",
                    "type": "synonym"
                },
                {
                    "name": "CG10882",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG10882",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG10882",
                    "type": "synonym"
                },
                {
                    "name": "FBgn0031408",
                    "type": "synonym"
                },
                {
                    "name": "Gho",
                    "type": "synonym"
                },
                {
                    "name": "Sec24CD",
                    "type": "synonym"
                },
                {
                    "name": "Sec24",
                    "type": "synonym"
                },
                {
                    "name": "Sten",
                    "type": "synonym"
                },
                {
                    "name": "gho",
                    "type": "synonym"
                },
                {
                    "name": "sec24",
                    "type": "synonym"
                },
                {
                    "name": "sfb3",
                    "type": "synonym"
                },
                {
                    "name": "sten",
                    "type": "synonym"
                }
            ],
            "record_id": "M9PC99-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P54399-1",
            "uniprot_ac": "P54399",
            "uniprot_id": "PDI_DROME",
            "refseq_ac": "NP_001287070",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein disulfide-isomerase",
                    "type": "recommended"
                },
                {
                    "name": "5.3.4.1",
                    "type": "synonym"
                },
                {
                    "name": "CG6988-PE",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Pdi-PE",
                    "type": "synonym"
                },
                {
                    "name": "dPDI",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) j2A2",
                    "type": "synonym"
                },
                {
                    "name": "proline diisomerease",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide isomerase, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "protein disulfide isomerase",
                    "type": "synonym"
                },
                {
                    "name": "protein disulphide isomerase",
                    "type": "synonym"
                },
                {
                    "name": "protein-disulfide isomerase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pdi",
                    "type": "recommended"
                },
                {
                    "name": "CG6988",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6988",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6988",
                    "type": "synonym"
                },
                {
                    "name": "Dpdi",
                    "type": "synonym"
                },
                {
                    "name": "EP(3)1022",
                    "type": "synonym"
                },
                {
                    "name": "PDI",
                    "type": "synonym"
                },
                {
                    "name": "Pdi",
                    "type": "synonym"
                },
                {
                    "name": "dpdi",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j2A2",
                    "type": "synonym"
                },
                {
                    "name": "pdi",
                    "type": "synonym"
                }
            ],
            "record_id": "P54399-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NZN3-1",
            "uniprot_ac": "Q9NZN3",
            "uniprot_id": "EHD3_HUMAN",
            "refseq_ac": "NP_055415",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "EH domain-containing protein 3",
                    "type": "recommended"
                },
                {
                    "name": "EH domain-containing protein 3",
                    "type": "synonym"
                },
                {
                    "name": "PAST homolog 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EHD3",
                    "type": "recommended"
                },
                {
                    "name": "EHD2",
                    "type": "synonym"
                },
                {
                    "name": "EHD3",
                    "type": "synonym"
                },
                {
                    "name": "PAST3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NZN3-1",
            "evidence": [
                {
                    "id": "0060438",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060438"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060438"
}