{
    "disease_id": "DOID:0080434",
    "recommended_name": {
        "id": "DOID:0080434",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080434",
        "name": "developmental and epileptic encephalopathy 61",
        "description": "A developmental and epileptic encephalopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ADAM22 gene on chromosome 7q21."
    },
    "synonyms": [
        {
            "id": "DOID:0080434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080434",
            "name": "DEE61",
            "description": ""
        },
        {
            "id": "DOID:0080434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080434",
            "name": "early infantile epileptic encephalopathy 61",
            "description": ""
        },
        {
            "id": "MONDO:0033370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033370",
            "name": "developmental and epileptic encephalopathy, 61",
            "description": ""
        },
        {
            "id": "MONDO:0033370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033370",
            "name": "DEE61",
            "description": ""
        },
        {
            "id": "MONDO:0033370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033370",
            "name": "EIEE61",
            "description": ""
        },
        {
            "id": "MONDO:0033370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033370",
            "name": "developmental and epileptic encephalopathy 61",
            "description": ""
        },
        {
            "id": "MONDO:0033370",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033370",
            "name": "epileptic encephalopathy, early infantile, 61",
            "description": ""
        },
        {
            "id": "MIM:617933",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617933",
            "name": "Developmental and epileptic encephalopathy 61",
            "description": "Developmental and epileptic encephalopathy 61"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080434"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080434",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080434",
            "categories": []
        },
        {
            "id": "MONDO:0033370",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0033370",
            "categories": []
        },
        {
            "id": "MIM:617933",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617933",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PDU9-1",
            "uniprot_ac": "A0A8M9PDU9",
            "uniprot_id": "A0A8M9PDU9_DANRE",
            "refseq_ac": "XP_021322679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 22 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 22 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "adam22",
                    "type": "recommended"
                },
                {
                    "name": "adam22",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PDU9-1",
            "evidence": [
                {
                    "id": "0080434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1V6-3",
            "uniprot_ac": "Q9R1V6",
            "uniprot_id": "ADA22_MOUSE",
            "refseq_ac": "NP_001007221",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 22",
                    "type": "recommended"
                },
                {
                    "name": "ADAM 22",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloprotease domain (ADAM) 22",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 22 isoform a precursor",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 22",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adam22",
                    "type": "recommended"
                },
                {
                    "name": "2900022I03Rik",
                    "type": "synonym"
                },
                {
                    "name": "Adam22",
                    "type": "synonym"
                },
                {
                    "name": "MDC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1V6-3",
            "evidence": [
                {
                    "id": "0080434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9P0K1-1",
            "uniprot_ac": "Q9P0K1",
            "uniprot_id": "ADA22_HUMAN",
            "refseq_ac": "NP_004185",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Disintegrin and metalloproteinase domain-containing protein 22",
                    "type": "recommended"
                },
                {
                    "name": "ADAM 22",
                    "type": "synonym"
                },
                {
                    "name": "Metalloproteinase-disintegrin ADAM22-3",
                    "type": "synonym"
                },
                {
                    "name": "Metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2",
                    "type": "synonym"
                },
                {
                    "name": "a disintegrin and metalloproteinase domain 22",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 22 isoform 4 precursor",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 22",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase-disintegrin ADAM22-3",
                    "type": "synonym"
                },
                {
                    "name": "metalloproteinase-like, disintegrin-like, and cysteine-rich protein 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ADAM22",
                    "type": "recommended"
                },
                {
                    "name": "ADAM 22",
                    "type": "synonym"
                },
                {
                    "name": "ADAM22",
                    "type": "synonym"
                },
                {
                    "name": "DEE61",
                    "type": "synonym"
                },
                {
                    "name": "EIEE61",
                    "type": "synonym"
                },
                {
                    "name": "MDC2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9P0K1-1",
            "evidence": [
                {
                    "id": "617933",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617933"
                },
                {
                    "id": "0080434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5Y6E8-1",
            "uniprot_ac": "A0A8I5Y6E8",
            "uniprot_id": "A0A8I5Y6E8_RAT",
            "refseq_ac": "XP_038964492",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "ADAM metallopeptidase domain 22",
                    "type": "synonym"
                },
                {
                    "name": "disintegrin and metalloproteinase domain-containing protein 22 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Adam22",
                    "type": "recommended"
                },
                {
                    "name": "Sri",
                    "type": "recommended"
                },
                {
                    "name": "Adam22",
                    "type": "synonym"
                },
                {
                    "name": "MDC2",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5Y6E8-1",
            "evidence": [
                {
                    "id": "0080434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "X2JE21-1",
            "uniprot_ac": "X2JE21",
            "uniprot_id": "X2JE21_DROME",
            "refseq_ac": "NP_001285311",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG42252-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Meltrin-like",
                    "type": "synonym"
                },
                {
                    "name": "Mind-meld, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "Mind-meld",
                    "type": "synonym"
                },
                {
                    "name": "mind meld",
                    "type": "synonym"
                },
                {
                    "name": "mind-meld, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "mmd-PJ",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mmd",
                    "type": "recommended"
                },
                {
                    "name": "CG15603",
                    "type": "synonym"
                },
                {
                    "name": "CG15604",
                    "type": "synonym"
                },
                {
                    "name": "CG42252",
                    "type": "synonym"
                },
                {
                    "name": "CG9163",
                    "type": "synonym"
                },
                {
                    "name": "CT26192",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG42252",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG42252",
                    "type": "synonym"
                },
                {
                    "name": "mmd",
                    "type": "synonym"
                }
            ],
            "record_id": "X2JE21-1",
            "evidence": [
                {
                    "id": "0080434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080434"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080434"
}