{
    "disease_id": "DOID:0060752",
    "recommended_name": {
        "id": "DOID:0060752",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0060752",
        "name": "familial temporal lobe epilepsy 5",
        "description": "A temporal lobe epilepsy that has_material_basis_in heterozygous mutation in the CPA6 gene on chromosome 8q13."
    },
    "synonyms": [
        {
            "id": "DOID:0060752",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060752",
            "name": "ETL5",
            "description": ""
        },
        {
            "id": "MONDO:0013741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013741",
            "name": "familial temporal lobe epilepsy 5",
            "description": "A temporal lobe epilepsy that has material basis in heterozygous mutation in the CPA6 gene on chromosome 8q13."
        },
        {
            "id": "MONDO:0013741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013741",
            "name": "ETL5",
            "description": ""
        },
        {
            "id": "MONDO:0013741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013741",
            "name": "epilepsy, familial temporal lobe, type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013741",
            "name": "familial temporal lobe epilepsy type 5",
            "description": ""
        },
        {
            "id": "MONDO:0013741",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013741",
            "name": "epilepsy, familial temporal lobe, 5",
            "description": ""
        },
        {
            "id": "MIM:614417",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614417",
            "name": "Epilepsy, familial temporal lobe, 5",
            "description": "Epilepsy, familial temporal lobe, 5"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0060752"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0060752",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0060752",
            "categories": []
        },
        {
            "id": "MONDO:0013741",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013741",
            "categories": []
        },
        {
            "id": "MIM:614417",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614417",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E7F2H8-1",
            "uniprot_ac": "E7F2H8",
            "uniprot_id": "E7F2H8_DANRE",
            "refseq_ac": "XP_021325980",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase A6",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase A6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cpa6",
                    "type": "recommended"
                },
                {
                    "name": "cpa6",
                    "type": "synonym"
                }
            ],
            "record_id": "E7F2H8-1",
            "evidence": [
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U901-1",
            "uniprot_ac": "Q5U901",
            "uniprot_id": "CBPA6_MOUSE",
            "refseq_ac": "NP_001276426",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase A6",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase A6 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "metallocarboxypeptidase",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "Cpa6",
                    "type": "recommended"
                },
                {
                    "name": "9030616D13Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cpa6",
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                }
            ],
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                    "id": "0060752",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
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            "refseq_ac": "NP_065094",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase A6",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase A6 isoform 1 preproprotein",
                    "type": "synonym"
                },
                {
                    "name": "carboxypeptidase B",
                    "type": "synonym"
                }
            ],
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                {
                    "name": "CPA6",
                    "type": "recommended"
                },
                {
                    "name": "CPA6",
                    "type": "synonym"
                },
                {
                    "name": "CPAH",
                    "type": "synonym"
                },
                {
                    "name": "ETL5",
                    "type": "synonym"
                },
                {
                    "name": "FEB11",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "614417",
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                    "url": "https://www.omim.org/entry/614417"
                },
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38836-1",
            "uniprot_ac": "P38836",
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            "refseq_ac": "NP_012000",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inactive metallocarboxypeptidase ECM14",
                    "type": "recommended"
                },
                {
                    "name": "Extracellular mutant protein 14",
                    "type": "synonym"
                },
                {
                    "name": "putative metallocarboxypeptidase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ECM14",
                    "type": "recommended"
                },
                {
                    "name": "ECM14",
                    "type": "synonym"
                }
            ],
            "record_id": "P38836-1",
            "evidence": [
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "F1M4P0-1",
            "uniprot_ac": "F1M4P0",
            "uniprot_id": "F1M4P0_RAT",
            "refseq_ac": "NP_001402791",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Carboxypeptidase A6",
                    "type": "recommended"
                },
                {
                    "name": "carboxypeptidase A6 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cpa6",
                    "type": "recommended"
                },
                {
                    "name": "Cpa6",
                    "type": "synonym"
                }
            ],
            "record_id": "F1M4P0-1",
            "evidence": [
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL86-1",
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            "glycoprotein": "no",
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                {
                    "name": "Drosophila melanogaster",
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                }
            ],
            "protein_names": [
                {
                    "name": "Zinc carboxypeptidase A 1",
                    "type": "recommended"
                },
                {
                    "name": "3.4.17.-",
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                },
                {
                    "name": "CG17633-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG17633",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG17633",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL86-1",
            "evidence": [
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS66-1",
            "uniprot_ac": "Q9VS66",
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                {
                    "name": "Drosophila melanogaster",
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                    "glygen_name": "Fruit fly",
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                }
            ],
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                {
                    "name": "Peptidase M14 domain-containing protein",
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                    "name": "CG8562-PA",
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                {
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                }
            ],
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                    "name": "Dmel\\CG8562",
                    "type": "recommended"
                },
                {
                    "name": "CG8562",
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                },
                {
                    "name": "CT15463",
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                {
                    "name": "Dmel\\CG8562",
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                {
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                }
            ],
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                {
                    "id": "0060752",
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            "uniprot_canonical_ac": "Q9W477-1",
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                    "name": "Drosophila melanogaster",
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                }
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                    "name": "CG15768",
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                {
                    "name": "CG15769",
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                },
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                    "name": "CG15768",
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                    "name": "CG15769",
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                {
                    "name": "CG42264",
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                    "name": "Dmel\\CG42264",
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                    "id": "0060752",
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                    "name": "Drosophila melanogaster",
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                }
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                {
                    "name": "Dmel\\CG3097",
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                    "name": "CG3097",
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                {
                    "name": "Dmel\\CG3097",
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                {
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                    "id": "0060752",
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                {
                    "name": "Drosophila melanogaster",
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                }
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                    "name": "Dmel\\CG8563",
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                    "name": "Dmel_CG8563",
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                {
                    "id": "0060752",
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                    "name": "Drosophila melanogaster",
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                }
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                    "name": "Zinc carboxypeptidase A 1",
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                    "name": "Dmel\\CG2915",
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                {
                    "name": "Dmel_CG2915",
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                    "id": "0060752",
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                    "name": "Drosophila melanogaster",
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                    "name": "Peptidase M14 domain-containing protein",
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                }
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                    "name": "Dmel\\CG8539",
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                    "name": "Dmel\\CG8539",
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                {
                    "name": "Dmel_CG8539",
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                    "id": "0060752",
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                }
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            "uniprot_canonical_ac": "Q9VCM8-1",
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                {
                    "name": "Drosophila melanogaster",
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                }
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                    "name": "Zinc carboxypeptidase A 1",
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                    "name": "uncharacterized protein, isoform A",
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                    "name": "Dmel\\CG4408",
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                    "name": "BEST:GH09055",
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                    "name": "CG4408",
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                    "name": "Dmel\\CG4408",
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                    "name": "Dmel_CG4408",
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                {
                    "id": "0060752",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
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            "uniprot_canonical_ac": "Q9VS67-1",
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                {
                    "name": "Drosophila melanogaster",
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                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
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                {
                    "name": "Peptidase M14 domain-containing protein",
                    "type": "recommended"
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                    "name": "CG18417-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
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                }
            ],
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                {
                    "name": "carboxypeptidase b1",
                    "type": "recommended"
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                    "name": "CG18417",
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                },
                {
                    "name": "Dmel\\CG18417",
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                {
                    "name": "Dmel_CG18417",
                    "type": "synonym"
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                {
                    "name": "carboxypeptidase b1",
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            ],
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                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VS65-1",
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            "uniprot_id": "Q9VS65_DROME",
            "refseq_ac": "NP_729252",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase M14 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG32379-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG18415",
                    "type": "recommended"
                },
                {
                    "name": "CG18415",
                    "type": "synonym"
                },
                {
                    "name": "CG32379",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32379",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32379",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VS65-1",
            "evidence": [
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VL87-1",
            "uniprot_ac": "Q9VL87",
            "uniprot_id": "Q9VL87_DROME",
            "refseq_ac": "NP_609309",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Peptidase M14 domain-containing protein",
                    "type": "recommended"
                },
                {
                    "name": "CG4017-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4017",
                    "type": "recommended"
                },
                {
                    "name": "CG4017",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4017",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4017",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VL87-1",
            "evidence": [
                {
                    "id": "0060752",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0060752"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0060752"
}