{
    "disease_id": "DOID:0090145",
    "recommended_name": {
        "id": "DOID:0090145",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0090145",
        "name": "dopamine beta-hydroxylase deficiency",
        "description": "An inherited metabolic disorder characterized by decreased beta-hydroxylation of dopamine in nerves resulting in impaired autonomic noradrenergic neurotransmission and clinical features including severely decreased norepinephrine levels, orthostatic hypotension, ptosis, nasal stuffiness, and delayed eye opening that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the dopamine beta-hydroxylase gene (DBH) on chromosome 9q34."
    },
    "synonyms": [
        {
            "id": "DOID:0090145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "name": "congenital dopamine beta-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "name": "noradrenaline deficiency",
            "description": ""
        },
        {
            "id": "DOID:0090145",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "name": "norepinephrine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "orthostatic hypotension 1",
            "description": "A very rare primary monoamine neurotransmitter synthesis disorder with norepinephrine and adrenaline deficiency that leads to young-onset severe orthostatic hypotension and eyelid ptosis."
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "dopamine beta-hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "noradrenaline deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "norepinephrine deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "orthostatic hypotension 1, due to DBH deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009123",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "name": "dopamine beta hydroxylase deficiency",
            "description": ""
        },
        {
            "id": "MIM:223360",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/223360",
            "name": "Orthostatic hypotension 1",
            "description": "Orthostatic hypotension 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0090145"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0090145",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0090145",
            "categories": []
        },
        {
            "id": "MONDO:0009123",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009123",
            "categories": []
        },
        {
            "id": "MIM:223360",
            "database": "MIM",
            "url": "https://www.omim.org/entry/223360",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1R3H6-1",
            "uniprot_ac": "F1R3H6",
            "uniprot_id": "F1R3H6_DANRE",
            "refseq_ac": "XP_009301625",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                }
            ],
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                    "name": "slc6a2",
                    "type": "recommended"
                },
                {
                    "name": "slc6a2",
                    "type": "synonym"
                }
            ],
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                    "id": "0090145",
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                }
            ]
        },
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            "uniprot_ac": "Q64237",
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                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
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                }
            ],
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                    "type": "recommended"
                },
                {
                    "name": "1.14.17.1",
                    "type": "synonym"
                },
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                    "name": "Dopamine beta-monooxygenase",
                    "type": "synonym"
                },
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                    "type": "synonym"
                },
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                }
            ],
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                    "name": "Dbh",
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                },
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                    "id": "0090145",
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                }
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                }
            ],
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                    "type": "synonym"
                },
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                    "name": "BiP",
                    "type": "synonym"
                },
                {
                    "name": "Binding-immunoglobulin protein",
                    "type": "synonym"
                },
                {
                    "name": "GRP-78",
                    "type": "synonym"
                },
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                    "name": "HSP70 family protein 5",
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                },
                {
                    "name": "Heat shock protein 70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family A member 5",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin heavy chain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "XAP-1 antigen",
                    "type": "synonym"
                },
                {
                    "name": "binding-immunoglobulin protein",
                    "type": "synonym"
                },
                {
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                    "type": "synonym"
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                    "name": "glucose regulated protein, 78 kDa",
                    "type": "synonym"
                },
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                    "name": "heat shock 70 kDa protein 5",
                    "type": "synonym"
                },
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                    "name": "heat shock 70kD protein 5 (glucose-regulated protein, 78kD)",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 5",
                    "type": "synonym"
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                {
                    "name": "heat shock protein 70 family protein 5",
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                {
                    "name": "heat shock protein family A member 5",
                    "type": "synonym"
                },
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                    "name": "immunoglobulin heavy chain-binding protein",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Hspa5",
                    "type": "recommended"
                },
                {
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                    "type": "synonym"
                },
                {
                    "name": "D2Wsu141e",
                    "type": "synonym"
                },
                {
                    "name": "D2Wsu17e",
                    "type": "synonym"
                },
                {
                    "name": "Grp78",
                    "type": "synonym"
                },
                {
                    "name": "Hsce70",
                    "type": "synonym"
                },
                {
                    "name": "Hspa5",
                    "type": "synonym"
                },
                {
                    "name": "SEZ-7",
                    "type": "synonym"
                },
                {
                    "name": "Sez7",
                    "type": "synonym"
                },
                {
                    "name": "baffled",
                    "type": "synonym"
                },
                {
                    "name": "mBiP",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0090145",
                    "database": "AGR",
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                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q61327-1",
            "uniprot_ac": "Q61327",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "DA transporter",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 3",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dopamine transporter",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Dat1",
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                {
                    "name": "Dat",
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                    "id": "0090145",
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            "uniprot_canonical_ac": "O55192-1",
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                {
                    "name": "Mus musculus",
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                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
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                {
                    "name": "Sodium-dependent noradrenaline transporter",
                    "type": "recommended"
                },
                {
                    "name": "NE transporter",
                    "type": "synonym"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "Norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 2",
                    "type": "synonym"
                },
                {
                    "name": "norepinephrine transporter",
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                {
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            ],
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                {
                    "name": "Homo sapiens",
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                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
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                    "type": "synonym"
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                {
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                    "id": "0090145",
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            "uniprot_canonical_ac": "P16474-1",
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                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "name": "Dopamine beta-monooxygenase",
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                    "name": "dopamine beta-hydroxylase precursor",
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                {
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                    "name": "Dbh",
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                    "name": "DOPBHY",
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                    "id": "0090145",
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                    "name": "steroidogenesis-activator polypeptide",
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                    "type": "synonym"
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                    "type": "synonym"
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                    "name": "Grp78",
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                {
                    "name": "Hspa5",
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                }
            ],
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                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
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            "uniprot_canonical_ac": "P23977-1",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Sodium-dependent dopamine transporter",
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                },
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                    "name": "DAT",
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                {
                    "name": "Solute carrier family 6 member 3",
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                    "name": "sodium-dependent dopamine transporter",
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                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a3",
                    "type": "recommended"
                },
                {
                    "name": "Dat1",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P23977-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1LQW0-1",
            "uniprot_ac": "F1LQW0",
            "uniprot_id": "F1LQW0_RAT",
            "refseq_ac": "NP_112633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transporter",
                    "type": "recommended"
                },
                {
                    "name": "NaCl-dependent norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "neurotransmitter transporter, noradrenal",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2",
                    "type": "synonym"
                },
                {
                    "name": "transmembrane region 4..26 transmembrane region 55..77 transmembrane region 105..123 transmembrane region 136..157",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc6a2",
                    "type": "recommended"
                },
                {
                    "name": "Net",
                    "type": "synonym"
                },
                {
                    "name": "Slc6a2",
                    "type": "synonym"
                }
            ],
            "record_id": "F1LQW0-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43219-1",
            "uniprot_ac": "P43219",
            "uniprot_id": "GIPR_RAT",
            "refseq_ac": "NP_036846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Gastric inhibitory polypeptide receptor",
                    "type": "recommended"
                },
                {
                    "name": "GIP-R",
                    "type": "synonym"
                },
                {
                    "name": "Glucose-dependent insulinotropic polypeptide receptor",
                    "type": "synonym"
                },
                {
                    "name": "gastric inhibitory peptide receptor",
                    "type": "synonym"
                },
                {
                    "name": "gastric inhibitory polypeptide receptor precursor",
                    "type": "synonym"
                },
                {
                    "name": "glucose-dependent insulinotropic polypeptide receptor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gipr",
                    "type": "recommended"
                },
                {
                    "name": "Gippr",
                    "type": "synonym"
                },
                {
                    "name": "Gipr",
                    "type": "synonym"
                },
                {
                    "name": "RATGIPPR",
                    "type": "synonym"
                }
            ],
            "record_id": "P43219-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86B61-1",
            "uniprot_ac": "Q86B61",
            "uniprot_id": "TBH1_DROME",
            "refseq_ac": "NP_001284996",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Tyramine beta-hydroxylase",
                    "type": "recommended"
                },
                {
                    "name": "1.14.17.-",
                    "type": "synonym"
                },
                {
                    "name": "CG1543-PC",
                    "type": "synonym"
                },
                {
                    "name": "TbetaM",
                    "type": "synonym"
                },
                {
                    "name": "Tbh-PC",
                    "type": "synonym"
                },
                {
                    "name": "Tyramine beta-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "Tyrosine-beta-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "dopamine beta hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyramine beta hydroxylase, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "tyramine beta hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyramine beta-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyramine beta-monooxygenase",
                    "type": "synonym"
                },
                {
                    "name": "tyramine betahydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyramine-beta-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyroside beta-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "tyrosine beta hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbh",
                    "type": "recommended"
                },
                {
                    "name": "CG1543",
                    "type": "synonym"
                },
                {
                    "name": "DBH",
                    "type": "synonym"
                },
                {
                    "name": "Dbh",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG1543",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG1543",
                    "type": "synonym"
                },
                {
                    "name": "T beta h",
                    "type": "synonym"
                },
                {
                    "name": "TBH",
                    "type": "synonym"
                },
                {
                    "name": "TBetaH",
                    "type": "synonym"
                },
                {
                    "name": "TBetah",
                    "type": "synonym"
                },
                {
                    "name": "TBh",
                    "type": "synonym"
                },
                {
                    "name": "TbH",
                    "type": "synonym"
                },
                {
                    "name": "TbetaH",
                    "type": "synonym"
                },
                {
                    "name": "TbetaM",
                    "type": "synonym"
                },
                {
                    "name": "Tbetah",
                    "type": "synonym"
                },
                {
                    "name": "Tbh",
                    "type": "synonym"
                },
                {
                    "name": "tbetah",
                    "type": "synonym"
                },
                {
                    "name": "tbh",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86B61-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P29844-1",
            "uniprot_ac": "P29844",
            "uniprot_id": "BIP_DROME",
            "refseq_ac": "NP_001285139",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum chaperone BiP",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "70 kDa heat shock protein, endoplasmic reticulum 1",
                    "type": "synonym"
                },
                {
                    "name": "78 kDa glucose-regulated protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "BiP",
                    "type": "synonym"
                },
                {
                    "name": "Binding-immunoglobulin protein homolog",
                    "type": "synonym"
                },
                {
                    "name": "CG4147-PE",
                    "type": "synonym"
                },
                {
                    "name": "GRP-78 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GRP78",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock 70 kDa protein cognate 3",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein cognate 72",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70-3-PE",
                    "type": "synonym"
                },
                {
                    "name": "glucose-regulated protein 78kD/binding immunoglobulin protein",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70-kDa protein cognate 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock cognate protein 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70 cognate 3, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 70-3",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein cognate 72",
                    "type": "synonym"
                },
                {
                    "name": "heat-shock cognate 70-3",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hsc70-3",
                    "type": "recommended"
                },
                {
                    "name": "A4V4C4_DROME",
                    "type": "synonym"
                },
                {
                    "name": "BIP",
                    "type": "synonym"
                },
                {
                    "name": "BiP",
                    "type": "synonym"
                },
                {
                    "name": "Bip",
                    "type": "synonym"
                },
                {
                    "name": "CG1579",
                    "type": "synonym"
                },
                {
                    "name": "CG4147",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4147",
                    "type": "synonym"
                },
                {
                    "name": "GRP78",
                    "type": "synonym"
                },
                {
                    "name": "GRP87/Bip",
                    "type": "synonym"
                },
                {
                    "name": "Grp78",
                    "type": "synonym"
                },
                {
                    "name": "HSC-70",
                    "type": "synonym"
                },
                {
                    "name": "HSC3",
                    "type": "synonym"
                },
                {
                    "name": "HSC70-3",
                    "type": "synonym"
                },
                {
                    "name": "HSC70",
                    "type": "synonym"
                },
                {
                    "name": "HSP70er1",
                    "type": "synonym"
                },
                {
                    "name": "HSP70",
                    "type": "synonym"
                },
                {
                    "name": "HSP7C_DROME",
                    "type": "synonym"
                },
                {
                    "name": "HSPA5",
                    "type": "synonym"
                },
                {
                    "name": "Hsc-3",
                    "type": "synonym"
                },
                {
                    "name": "Hsc-70-3",
                    "type": "synonym"
                },
                {
                    "name": "Hsc3-BiP/GRP78",
                    "type": "synonym"
                },
                {
                    "name": "Hsc3p",
                    "type": "synonym"
                },
                {
                    "name": "Hsc3",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70-3",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70.3",
                    "type": "synonym"
                },
                {
                    "name": "Hsc70",
                    "type": "synonym"
                },
                {
                    "name": "Hsc73",
                    "type": "synonym"
                },
                {
                    "name": "Hsp-c3",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0138581.7",
                    "type": "synonym"
                },
                {
                    "name": "bip",
                    "type": "synonym"
                },
                {
                    "name": "dBiP",
                    "type": "synonym"
                },
                {
                    "name": "dBip",
                    "type": "synonym"
                },
                {
                    "name": "dhsc70",
                    "type": "synonym"
                },
                {
                    "name": "dmHsc72",
                    "type": "synonym"
                },
                {
                    "name": "grp78",
                    "type": "synonym"
                },
                {
                    "name": "hsc3",
                    "type": "synonym"
                },
                {
                    "name": "hsc70-3",
                    "type": "synonym"
                },
                {
                    "name": "hsc70",
                    "type": "synonym"
                },
                {
                    "name": "hsc72",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0102",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0111",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0292",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0341",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0407",
                    "type": "synonym"
                },
                {
                    "name": "l(1)G0466",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K4Y6-1",
            "uniprot_ac": "Q7K4Y6",
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "CG8380-PA",
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                },
                {
                    "name": "DAT-PA",
                    "type": "synonym"
                },
                {
                    "name": "Protein fumin",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "fumin",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DAT",
                    "type": "recommended"
                },
                {
                    "name": "CG8380",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Dat",
                    "type": "synonym"
                },
                {
                    "name": "DmDAT",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8380",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8380",
                    "type": "synonym"
                },
                {
                    "name": "Fumin",
                    "type": "synonym"
                },
                {
                    "name": "dDAT",
                    "type": "synonym"
                },
                {
                    "name": "dDat",
                    "type": "synonym"
                },
                {
                    "name": "dat",
                    "type": "synonym"
                },
                {
                    "name": "fmn",
                    "type": "synonym"
                },
                {
                    "name": "fumin",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K4Y6-1",
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                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75907-1",
            "uniprot_ac": "O75907",
            "uniprot_id": "DGAT1_HUMAN",
            "refseq_ac": "NP_036211",
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            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Diacylglycerol O-acyltransferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.20",
                    "type": "synonym"
                },
                {
                    "name": "2.3.1.76",
                    "type": "synonym"
                },
                {
                    "name": "ACAT related gene product 1",
                    "type": "synonym"
                },
                {
                    "name": "ACAT-related gene product 1",
                    "type": "synonym"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "Acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Diglyceride acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "Retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl coenzyme A:cholesterol acyltransferase related gene 1",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA retinol O-fatty-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "acyl-CoA:diacylglycerol acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "diacylglycerol O-acyltransferase 1",
                    "type": "synonym"
                },
                {
                    "name": "diglyceride acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DGAT1",
                    "type": "recommended"
                },
                {
                    "name": "AGRP1",
                    "type": "synonym"
                },
                {
                    "name": "ARAT",
                    "type": "synonym"
                },
                {
                    "name": "ARGP1",
                    "type": "synonym"
                },
                {
                    "name": "DGAT1",
                    "type": "synonym"
                },
                {
                    "name": "DGAT",
                    "type": "synonym"
                },
                {
                    "name": "DIAR7",
                    "type": "synonym"
                }
            ],
            "record_id": "O75907-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q01959-1",
            "uniprot_ac": "Q01959",
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            "refseq_ac": "NP_001035",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent dopamine transporter",
                    "type": "recommended"
                },
                {
                    "name": "DA transporter",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 3",
                    "type": "synonym"
                },
                {
                    "name": "dopamine transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dopamine transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 3",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, dopamine), member 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A3",
                    "type": "recommended"
                },
                {
                    "name": "DAT1",
                    "type": "synonym"
                },
                {
                    "name": "DAT",
                    "type": "synonym"
                },
                {
                    "name": "PKDYS1",
                    "type": "synonym"
                },
                {
                    "name": "PKDYS",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q01959-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23975-1",
            "uniprot_ac": "P23975",
            "uniprot_id": "SC6A2_HUMAN",
            "refseq_ac": "NP_001034",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent noradrenaline transporter",
                    "type": "recommended"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "Norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 6 member 2",
                    "type": "synonym"
                },
                {
                    "name": "neurotransmitter transporter",
                    "type": "synonym"
                },
                {
                    "name": "norepinephrine transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent noradrenaline transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 (neurotransmitter transporter, noradrenalin), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 6 member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC6A2",
                    "type": "recommended"
                },
                {
                    "name": "NAT1",
                    "type": "synonym"
                },
                {
                    "name": "NET1",
                    "type": "synonym"
                },
                {
                    "name": "NET",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A2",
                    "type": "synonym"
                },
                {
                    "name": "SLC6A5",
                    "type": "synonym"
                }
            ],
            "record_id": "P23975-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P11021-1",
            "uniprot_ac": "P11021",
            "uniprot_id": "BIP_HUMAN",
            "refseq_ac": "NP_005338",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Endoplasmic reticulum chaperone BiP",
                    "type": "recommended"
                },
                {
                    "name": "3.6.4.10",
                    "type": "synonym"
                },
                {
                    "name": "78 kDa glucose-regulated protein",
                    "type": "synonym"
                },
                {
                    "name": "BiP",
                    "type": "synonym"
                },
                {
                    "name": "Binding-immunoglobulin protein",
                    "type": "synonym"
                },
                {
                    "name": "GRP-78",
                    "type": "synonym"
                },
                {
                    "name": "HSP70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein 70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "Heat shock protein family A member 5",
                    "type": "synonym"
                },
                {
                    "name": "Immunoglobulin heavy chain-binding protein",
                    "type": "synonym"
                },
                {
                    "name": "binding-immunoglobulin protein",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum chaperone BiP precursor",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum chaperone BiP",
                    "type": "synonym"
                },
                {
                    "name": "endoplasmic reticulum lumenal Ca(2+)-binding protein grp78",
                    "type": "synonym"
                },
                {
                    "name": "epididymis secretory sperm binding protein Li 89n",
                    "type": "synonym"
                },
                {
                    "name": "heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein 70 family protein 5",
                    "type": "synonym"
                },
                {
                    "name": "heat shock protein family A member 5",
                    "type": "synonym"
                },
                {
                    "name": "immunoglobulin heavy chain-binding protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HSPA5",
                    "type": "recommended"
                },
                {
                    "name": "BIP",
                    "type": "synonym"
                },
                {
                    "name": "GRP78",
                    "type": "synonym"
                },
                {
                    "name": "HEL-S-89n",
                    "type": "synonym"
                },
                {
                    "name": "HSPA5",
                    "type": "synonym"
                }
            ],
            "record_id": "P11021-1",
            "evidence": [
                {
                    "id": "0090145",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0090145"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0090145"
}