{
    "disease_id": "DOID:0060879",
    "recommended_name": {
        "id": "DOID:0060879",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060879",
        "name": "primary hypomagnesemia",
        "description": "A metal metabolism disorder characterized by very low serum magnesium levels often with secondary hypocalcemia with onset typically in the first months of life."
    },
    "synonyms": [
        {
            "id": "DOID:0060879",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060879",
            "name": "HOMG",
            "description": ""
        },
        {
            "id": "DOID:0060879",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060879",
            "name": "primary familial hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "intestinal hypomagnesemia 1",
            "description": "Primary hypomagnesemia with secondary hypocalcemia (PHSH) is a form of familial primary hypomagnesemia (FPH), characterized by severe hypomagnesemia and secondary hypocalcemia associated with neurological symptoms, including generalized seizures, tetany and muscle spasms. PHSH may be fatal or may result in chronic irreversible neurological complications."
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "HOMG1",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "HSH",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "PHSH",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "TRPM6 familial primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "TRPM6 primary hypomagnesemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "familial primary hypomagnesemia caused by mutation in TRPM6",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemia caused by selective magnesium malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemia intestinal type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemic tetany",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "intestinal hypomagnesemia type 1",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "intestinal hypomagnesemia with secondary hypocalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "primary hypomagnesemia caused by mutation in TRPM6",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "primary hypomagnesemia with secondary hypocalcemia",
            "description": ""
        },
        {
            "id": "MONDO:0011176",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "name": "hypomagnesemia 1, intestinal",
            "description": ""
        },
        {
            "id": "MIM:602014",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/602014",
            "name": "Hypomagnesemia 1",
            "description": "Hypomagnesemia 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0060880",
            "label": "renal hypomagnesemia 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060881",
            "label": "renal hypomagnesemia 5 with ocular involvement",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060882",
            "label": "renal hypomagnesemia 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060883",
            "label": "intestinal hypomagnesemia 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060884",
            "label": "renal hypomagnesemia 6",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060885",
            "label": "renal hypomagnesemia 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0060972",
            "label": "renal hypomagnesemia 7, with or without dilated cardiomyopathy",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0060883",
        "DOID:0060881",
        "DOID:0060879",
        "DOID:0060884",
        "DOID:0060972",
        "DOID:0060882",
        "DOID:0060880",
        "DOID:0060885"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060879",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060879",
            "categories": []
        },
        {
            "id": "MONDO:0011176",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011176",
            "categories": []
        },
        {
            "id": "MIM:602014",
            "database": "MIM",
            "url": "https://www.omim.org/entry/602014",
            "categories": []
        }
    ],
    "proteins": [
        {
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            "uniprot_ac": "A0AB13A7B8",
            "uniprot_id": "A0AB13A7B8_DANRE",
            "refseq_ac": "NP_001352456",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "pro-epidermal growth factor isoform 1 precursor",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "egf",
                    "type": "recommended"
                },
                {
                    "name": "egf",
                    "type": "synonym"
                },
                {
                    "name": "sb:eu639",
                    "type": "synonym"
                }
            ],
            "record_id": "A0AB13A7B8-1",
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                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5RHZ6-1",
            "uniprot_ac": "Q5RHZ6",
            "uniprot_id": "OSGEP_DANRE",
            "refseq_ac": "NP_001017751",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein osgep",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein osgep",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "osgep",
                    "type": "recommended"
                },
                {
                    "name": "fj38e02",
                    "type": "synonym"
                },
                {
                    "name": "osgep",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-214j24.11",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj38e02",
                    "type": "synonym"
                },
                {
                    "name": "zgc:112527",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5RHZ6-1",
            "evidence": [
                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01132-1",
            "uniprot_ac": "P01132",
            "uniprot_id": "EGF_MOUSE",
            "refseq_ac": "NP_034243",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                },
                {
                    "name": "Pro-epidermal growth factor precursor (EGF)",
                    "type": "synonym"
                },
                {
                    "name": "pro-epidermal growth factor isoform 1 preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Egf",
                    "type": "recommended"
                },
                {
                    "name": "Egf",
                    "type": "synonym"
                }
            ],
            "record_id": "P01132-1",
            "evidence": [
                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BWU5-1",
            "uniprot_ac": "Q8BWU5",
            "uniprot_id": "OSGEP_MOUSE",
            "refseq_ac": "NP_598437",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.3.1.234",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "mOsgep",
                    "type": "synonym"
                },
                {
                    "name": "probable O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Osgep",
                    "type": "recommended"
                },
                {
                    "name": "1500019L24Rik",
                    "type": "synonym"
                },
                {
                    "name": "GCPL-1",
                    "type": "synonym"
                },
                {
                    "name": "Osgep",
                    "type": "synonym"
                },
                {
                    "name": "PRSMG1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BWU5-1",
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                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BX84-1",
            "uniprot_ac": "Q9BX84",
            "uniprot_id": "TRPM6_HUMAN",
            "refseq_ac": "NP_001170781",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Transient receptor potential cation channel subfamily M member 6",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Channel kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Melastatin-related TRP cation channel 6",
                    "type": "synonym"
                },
                {
                    "name": "channel kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "melastatin-related TRP cation channel 6",
                    "type": "synonym"
                },
                {
                    "name": "transient receptor potential cation channel subfamily M member 6 isoform b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TRPM6",
                    "type": "recommended"
                },
                {
                    "name": "CHAK2",
                    "type": "synonym"
                },
                {
                    "name": "HMGX",
                    "type": "synonym"
                },
                {
                    "name": "HOMG1",
                    "type": "synonym"
                },
                {
                    "name": "HOMG",
                    "type": "synonym"
                },
                {
                    "name": "HSH",
                    "type": "synonym"
                },
                {
                    "name": "TRPM6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BX84-1",
            "evidence": [
                {
                    "id": "602014",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/602014"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08269-1",
            "uniprot_ac": "Q08269",
            "uniprot_id": "ALR1_YEAST",
            "refseq_ac": "NP_014511",
            "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": "Magnesium transporter ALR1",
                    "type": "recommended"
                },
                {
                    "name": "Aluminum resistance protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Mg(2+) transporter ALR1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ALR1",
                    "type": "recommended"
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                {
                    "name": "ALR1",
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                {
                    "name": "SWC3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08269-1",
            "evidence": [
                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
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            "uniprot_canonical_ac": "P36132-1",
            "uniprot_ac": "P36132",
            "uniprot_id": "KAE1_YEAST",
            "refseq_ac": "NP_012964",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
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                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
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                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "recommended"
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                {
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                    "type": "synonym"
                },
                {
                    "name": "Kinase-associated endopeptidase 1",
                    "type": "synonym"
                },
                {
                    "name": "N6-L-threonylcarbamoyladenine synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein KAE1",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
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                {
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                    "type": "synonym"
                }
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            ],
            "record_id": "P36132-1",
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                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
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        {
            "uniprot_canonical_ac": "P07522-1",
            "uniprot_ac": "P07522",
            "uniprot_id": "EGF_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Egf",
                    "type": "recommended"
                },
                {
                    "name": "LOC100910178",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
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            "uniprot_canonical_ac": "Q9WVS2-1",
            "uniprot_ac": "Q9WVS2",
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                {
                    "name": "Rattus norvegicus",
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                    "common_name": "Rat",
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                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "type": "recommended"
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                    "name": "2.3.1.234",
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                },
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                    "name": "N6-L-threonylcarbamoyladenine synthase",
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                },
                {
                    "name": "O-sialoglycoprotease",
                    "type": "synonym"
                },
                {
                    "name": "O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "Prsmg1/Gcpl1",
                    "type": "synonym"
                },
                {
                    "name": "pasteurella haemolytica metalloprotease homolog with glycoprotein substrates/gpc-like protein 1",
                    "type": "synonym"
                },
                {
                    "name": "probable O-sialoglycoprotein endopeptidase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "probable tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                },
                {
                    "name": "tRNA N6-adenosine threonylcarbamoyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein Osgep",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Osgep",
                    "type": "recommended"
                },
                {
                    "name": "Gcpl1",
                    "type": "synonym"
                },
                {
                    "name": "Osgep",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9WVS2-1",
            "evidence": [
                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6AYX5-1",
            "uniprot_ac": "Q6AYX5",
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            "refseq_ac": "NP_001138477",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
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                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
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                    "name": "Outer dense fiber protein 2",
                    "type": "recommended"
                },
                {
                    "name": "84 kDa outer dense fiber protein",
                    "type": "synonym"
                },
                {
                    "name": "Cenexin",
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                },
                {
                    "name": "Outer dense fiber of sperm tails protein 2",
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                },
                {
                    "name": "cenexin",
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                },
                {
                    "name": "outer dense fiber of sperm tail 2",
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                },
                {
                    "name": "outer dense fiber of sperm tails protein 2",
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                },
                {
                    "name": "outer dense fiber protein 2 isoform 1",
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                },
                {
                    "name": "outer dense fiber protein 2",
                    "type": "synonym"
                },
                {
                    "name": "sperm outer dense fiber major protein 2",
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                },
                {
                    "name": "testis-specific autoantigen",
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                }
            ],
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                    "name": "Odf2",
                    "type": "recommended"
                },
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                },
                {
                    "name": "Odf2",
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                {
                    "name": "Odf84",
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                }
            ],
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                    "id": "0060879",
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                }
            ]
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                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
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                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Probable tRNA N6-adenosine threonylcarbamoyltransferase",
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                },
                {
                    "name": "2.3.1.234",
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                },
                {
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                {
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                    "type": "synonym"
                },
                {
                    "name": "Tcs3-PA",
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                },
                {
                    "name": "Threonyl-carbamoyl synthesis 3",
                    "type": "synonym"
                },
                {
                    "name": "black spot",
                    "type": "synonym"
                },
                {
                    "name": "lethal (3) 72Fb",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A synthase",
                    "type": "synonym"
                },
                {
                    "name": "t(6)A37 threonylcarbamoyladenosine biosynthesis protein Tcs3",
                    "type": "synonym"
                },
                {
                    "name": "tRNA adenosine(37) threonylcarbamoyltransferase complex, transferase subunit",
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                },
                {
                    "name": "tRNA threonylcarbamoyladenosine biosynthesis protein Tcs3",
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                }
            ],
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                {
                    "name": "Tcs3",
                    "type": "recommended"
                },
                {
                    "name": "CG4933",
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                },
                {
                    "name": "Dmel\\CG4933",
                    "type": "synonym"
                },
                {
                    "name": "Tcs3",
                    "type": "synonym"
                },
                {
                    "name": "kae1",
                    "type": "synonym"
                },
                {
                    "name": "l(3)72Fb",
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                },
                {
                    "name": "tcs3",
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                }
            ],
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                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P43234-1",
            "uniprot_ac": "P43234",
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            "refseq_ac": "NP_001325",
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                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cathepsin O",
                    "type": "recommended"
                },
                {
                    "name": "3.4.22.42",
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                },
                {
                    "name": "cathepsin O preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CTSO",
                    "type": "recommended"
                },
                {
                    "name": "CTSO1",
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                },
                {
                    "name": "CTSO",
                    "type": "synonym"
                }
            ],
            "record_id": "P43234-1",
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                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9NPF4-1",
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                {
                    "name": "Homo sapiens",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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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": "tRNA threonylcarbamoyladenosine biosynthesis protein OSGEP",
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                }
            ],
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                {
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                },
                {
                    "name": "GCPL1",
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                },
                {
                    "name": "KAE1",
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                },
                {
                    "name": "OSGEP1",
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                },
                {
                    "name": "OSGEP",
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                },
                {
                    "name": "PRSMG1",
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                },
                {
                    "name": "TCS3",
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                }
            ],
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                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P01133-1",
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                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
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                    "reference_species": "Homo sapiens [9606]"
                }
            ],
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                {
                    "name": "Pro-epidermal growth factor",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
                    "type": "synonym"
                },
                {
                    "name": "Urogastrone",
                    "type": "synonym"
                },
                {
                    "name": "beta-urogastrone",
                    "type": "synonym"
                },
                {
                    "name": "pro-epidermal growth factor isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "pro-epidermal growth factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "EGF",
                    "type": "recommended"
                },
                {
                    "name": "EGF",
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                },
                {
                    "name": "HOMG4",
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                },
                {
                    "name": "URG",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0060879",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060879"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060879"
}