{
    "disease_id": "DOID:0051084",
    "recommended_name": {
        "id": "DOID:0051084",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0051084",
        "name": "developmental and epileptic encephalopathy 112",
        "description": "A developmental and epileptic encephalopathy that is characterized by a wide range of seizure types, including focal and generalized seizures and that has_material_basis_in heterozygous mutation in the KCNH5 gene on chromosome 14q23."
    },
    "synonyms": [
        {
            "id": "MONDO:0957812",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957812",
            "name": "developmental and epileptic encephalopathy 112",
            "description": ""
        },
        {
            "id": "MIM:620537",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620537",
            "name": "Developmental and epileptic encephalopathy 112",
            "description": "Developmental and epileptic encephalopathy 112"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0051084"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0051084",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0051084",
            "categories": []
        },
        {
            "id": "MONDO:0957812",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0957812",
            "categories": []
        },
        {
            "id": "MIM:620537",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620537",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8NCM2-1",
            "uniprot_ac": "Q8NCM2",
            "uniprot_id": "KCNH5_HUMAN",
            "refseq_ac": "NP_647479",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Voltage-gated delayed rectifier potassium channel KCNH5",
                    "type": "recommended"
                },
                {
                    "name": "Ether-a-go-go potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage-gated channel subfamily H member 5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv10.2",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go 2",
                    "type": "synonym"
                },
                {
                    "name": "ether-a-go-go-related potassium channel 2",
                    "type": "synonym"
                },
                {
                    "name": "hEAG2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated eag related subfamily H, member 5",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, subfamily H (eag-related), member 5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated delayed rectifier potassium channel KCNH5 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated delayed rectifier potassium channel KCNH5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv10.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNH5",
                    "type": "recommended"
                },
                {
                    "name": "DEE112",
                    "type": "synonym"
                },
                {
                    "name": "EAG2",
                    "type": "synonym"
                },
                {
                    "name": "H-EAG2",
                    "type": "synonym"
                },
                {
                    "name": "KCNH5",
                    "type": "synonym"
                },
                {
                    "name": "Kv10.2",
                    "type": "synonym"
                },
                {
                    "name": "hEAG2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8NCM2-1",
            "evidence": [
                {
                    "id": "620537",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620537"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0051084"
}