{
    "disease_id": "DOID:0080432",
    "recommended_name": {
        "id": "DOID:0080432",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080432",
        "name": "developmental and epileptic encephalopathy 60",
        "description": "A developmental and epileptic encephalopathy characterized by onset of infantile spasms, seizures, or myoclonus in the first months of life, hypsarrhythmia on EEG, and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the CNPY3 gene on chromosome 6p."
    },
    "synonyms": [
        {
            "id": "DOID:0080432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080432",
            "name": "DEE60",
            "description": ""
        },
        {
            "id": "DOID:0080432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080432",
            "name": "early infantile epileptic encephalopathy 60",
            "description": ""
        },
        {
            "id": "MONDO:0033369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033369",
            "name": "developmental and epileptic encephalopathy, 60",
            "description": ""
        },
        {
            "id": "MONDO:0033369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033369",
            "name": "DEE60",
            "description": ""
        },
        {
            "id": "MONDO:0033369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033369",
            "name": "EIEE60",
            "description": ""
        },
        {
            "id": "MONDO:0033369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033369",
            "name": "developmental and epileptic encephalopathy 60",
            "description": ""
        },
        {
            "id": "MONDO:0033369",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033369",
            "name": "epileptic encephalopathy, early infantile, 60",
            "description": ""
        },
        {
            "id": "MIM:617929",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617929",
            "name": "Developmental and epileptic encephalopathy 60",
            "description": "Developmental and epileptic encephalopathy 60"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080432"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080432",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080432",
            "categories": []
        },
        {
            "id": "MONDO:0033369",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033369",
            "categories": []
        },
        {
            "id": "MIM:617929",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617929",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A3KNS2-1",
            "uniprot_ac": "A3KNS2",
            "uniprot_id": "CNPY3_DANRE",
            "refseq_ac": "NP_001034894",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein canopy homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "canopy 3",
                    "type": "synonym"
                },
                {
                    "name": "canopy3",
                    "type": "synonym"
                },
                {
                    "name": "protein canopy homolog 3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein canopy homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat containing 5",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 5 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cnpy3",
                    "type": "recommended"
                },
                {
                    "name": "cnpy3",
                    "type": "synonym"
                },
                {
                    "name": "im:6892510",
                    "type": "synonym"
                },
                {
                    "name": "tnrc5",
                    "type": "synonym"
                }
            ],
            "record_id": "A3KNS2-1",
            "evidence": [
                {
                    "id": "0080432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9DAU1-1",
            "uniprot_ac": "Q9DAU1",
            "uniprot_id": "CNPY3_MOUSE",
            "refseq_ac": "NP_001292917",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein canopy homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "Protein associated with Tlr4",
                    "type": "synonym"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "canopy 3 homolog",
                    "type": "synonym"
                },
                {
                    "name": "protein associated with Tlr4",
                    "type": "synonym"
                },
                {
                    "name": "protein associated with toll-like receptor 4",
                    "type": "synonym"
                },
                {
                    "name": "protein canopy homolog 3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein canopy homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 5 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnpy3",
                    "type": "recommended"
                },
                {
                    "name": "1600025D17Rik",
                    "type": "synonym"
                },
                {
                    "name": "2410050O22Rik",
                    "type": "synonym"
                },
                {
                    "name": "CAG4A",
                    "type": "synonym"
                },
                {
                    "name": "Cnpy3",
                    "type": "synonym"
                },
                {
                    "name": "ERDA5",
                    "type": "synonym"
                },
                {
                    "name": "PRAT4A",
                    "type": "synonym"
                },
                {
                    "name": "Prat4a",
                    "type": "synonym"
                },
                {
                    "name": "Tnrc5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9DAU1-1",
            "evidence": [
                {
                    "id": "0080432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BT09-1",
            "uniprot_ac": "Q9BT09",
            "uniprot_id": "CNPY3_HUMAN",
            "refseq_ac": "NP_006577",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein canopy homolog 3",
                    "type": "recommended"
                },
                {
                    "name": "CAG repeat containing",
                    "type": "synonym"
                },
                {
                    "name": "CTG repeat protein 4a",
                    "type": "synonym"
                },
                {
                    "name": "Expanded repeat-domain protein CAG/CTG 5",
                    "type": "synonym"
                },
                {
                    "name": "Protein associated with TLR4",
                    "type": "synonym"
                },
                {
                    "name": "Trinucleotide repeat-containing gene 5 protein",
                    "type": "synonym"
                },
                {
                    "name": "expanded repeat-domain protein CAG/CTG 5",
                    "type": "synonym"
                },
                {
                    "name": "protein associated with TLR4",
                    "type": "synonym"
                },
                {
                    "name": "protein associated with Toll-like receptor 4A",
                    "type": "synonym"
                },
                {
                    "name": "protein canopy homolog 3 isoform 1 precursor",
                    "type": "synonym"
                },
                {
                    "name": "protein canopy homolog 3",
                    "type": "synonym"
                },
                {
                    "name": "trinucleotide repeat-containing gene 5 protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNPY3",
                    "type": "recommended"
                },
                {
                    "name": "CAG4A",
                    "type": "synonym"
                },
                {
                    "name": "CNPY3",
                    "type": "synonym"
                },
                {
                    "name": "CTG4A",
                    "type": "synonym"
                },
                {
                    "name": "DEE60",
                    "type": "synonym"
                },
                {
                    "name": "EIEE60",
                    "type": "synonym"
                },
                {
                    "name": "ERDA5",
                    "type": "synonym"
                },
                {
                    "name": "HSPC084",
                    "type": "synonym"
                },
                {
                    "name": "PRAT4A",
                    "type": "synonym"
                },
                {
                    "name": "PRO4409",
                    "type": "synonym"
                },
                {
                    "name": "TNRC5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BT09-1",
            "evidence": [
                {
                    "id": "617929",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617929"
                },
                {
                    "id": "0080432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "G3V828-1",
            "uniprot_ac": "G3V828",
            "uniprot_id": "G3V828_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein canopy homolog 3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Cnpy3",
                    "type": "recommended"
                }
            ],
            "record_id": "G3V828-1",
            "evidence": [
                {
                    "id": "0080432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVW7-1",
            "uniprot_ac": "Q9VVW7",
            "uniprot_id": "Q9VVW7_DROME",
            "refseq_ac": "NP_649089",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11577-PA",
                    "type": "synonym"
                },
                {
                    "name": "CNPYb-PA",
                    "type": "synonym"
                },
                {
                    "name": "Canopy b",
                    "type": "synonym"
                },
                {
                    "name": "canopy b",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNPYb",
                    "type": "recommended"
                },
                {
                    "name": "CG11577",
                    "type": "synonym"
                },
                {
                    "name": "CNPYb",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11577",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11577",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.323",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVW7-1",
            "evidence": [
                {
                    "id": "0080432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080432"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080432"
}