{
    "disease_id": "DOID:0080416",
    "recommended_name": {
        "id": "DOID:0080416",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080416",
        "name": "developmental and epileptic encephalopathy 32",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset between 5 and 17 months of age resulting in residual neurologic deficits; in some patients seizures may remit or respond to drug treatment, and that has_material_basis_in heterozygous mutation in the KCNA2 gene on chromosome 1p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080416",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080416",
            "name": "DEE32",
            "description": ""
        },
        {
            "id": "DOID:0080416",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080416",
            "name": "early infantile epileptic encephalopathy 32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "developmental and epileptic encephalopathy, 32",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene."
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "DEE32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "EIEE32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "KCNA2 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "developmental and epileptic encephalopathy 32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "early infantile epileptic encephalopathy caused by mutation in KCNA2",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "epileptic encephalopathy, early infantile, 32",
            "description": ""
        },
        {
            "id": "MONDO:0014607",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "name": "epileptic encephalopathy, early infantile, type 32",
            "description": ""
        },
        {
            "id": "MIM:616366",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616366",
            "name": "Developmental and epileptic encephalopathy 32",
            "description": "Developmental and epileptic encephalopathy 32"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080416"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080416",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080416",
            "categories": []
        },
        {
            "id": "MONDO:0014607",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014607",
            "categories": []
        },
        {
            "id": "MIM:616366",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616366",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P63141-1",
            "uniprot_ac": "P63141",
            "uniprot_id": "KCNA2_MOUSE",
            "refseq_ac": "NP_032443",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "MK2",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcna2",
                    "type": "recommended"
                },
                {
                    "name": "Akr6a4",
                    "type": "synonym"
                },
                {
                    "name": "Gm10672",
                    "type": "synonym"
                },
                {
                    "name": "Kca1-2",
                    "type": "synonym"
                },
                {
                    "name": "Kcna2",
                    "type": "synonym"
                },
                {
                    "name": "Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "Mk-2",
                    "type": "synonym"
                }
            ],
            "record_id": "P63141-1",
            "evidence": [
                {
                    "id": "0080416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P16389-1",
            "uniprot_ac": "P16389",
            "uniprot_id": "KCNA2_HUMAN",
            "refseq_ac": "NP_001191198",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated K(+) channel HuKIV",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel HBK5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 2 isoform b",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated K(+) channel HuKIV",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel HBK5",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel protein Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "KCNA2",
                    "type": "recommended"
                },
                {
                    "name": "DEE32",
                    "type": "synonym"
                },
                {
                    "name": "EIEE32",
                    "type": "synonym"
                },
                {
                    "name": "HBK5",
                    "type": "synonym"
                },
                {
                    "name": "HK4",
                    "type": "synonym"
                },
                {
                    "name": "HUKIV",
                    "type": "synonym"
                },
                {
                    "name": "KCNA2",
                    "type": "synonym"
                },
                {
                    "name": "KV1.2",
                    "type": "synonym"
                },
                {
                    "name": "MK2",
                    "type": "synonym"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                },
                {
                    "name": "RBK2",
                    "type": "synonym"
                }
            ],
            "record_id": "P16389-1",
            "evidence": [
                {
                    "id": "616366",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616366"
                },
                {
                    "id": "0080416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63142-1",
            "uniprot_ac": "P63142",
            "uniprot_id": "KCNA2_RAT",
            "refseq_ac": "NP_037102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel subfamily A member 2",
                    "type": "recommended"
                },
                {
                    "name": "Potassium (K+) channel protein alpha 2, voltage dependent",
                    "type": "synonym"
                },
                {
                    "name": "Potassium voltage gated channel shaker related subfamily member 2",
                    "type": "synonym"
                },
                {
                    "name": "RAK",
                    "type": "synonym"
                },
                {
                    "name": "RBK2",
                    "type": "synonym"
                },
                {
                    "name": "RCK5",
                    "type": "synonym"
                },
                {
                    "name": "Voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                },
                {
                    "name": "potassium channel, voltage gated shaker related subfamily A, member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel subfamily A member 2",
                    "type": "synonym"
                },
                {
                    "name": "potassium voltage-gated channel, shaker-related subfamily, member 2",
                    "type": "synonym"
                },
                {
                    "name": "voltage-gated potassium channel subunit Kv1.2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Kcna2",
                    "type": "recommended"
                },
                {
                    "name": "BK2",
                    "type": "synonym"
                },
                {
                    "name": "Kcna2",
                    "type": "synonym"
                },
                {
                    "name": "NGK1",
                    "type": "synonym"
                }
            ],
            "record_id": "P63142-1",
            "evidence": [
                {
                    "id": "0080416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P08510-1",
            "uniprot_ac": "P08510",
            "uniprot_id": "KCNAS_DROME",
            "refseq_ac": "NP_001162788",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium voltage-gated channel protein Shaker",
                    "type": "recommended"
                },
                {
                    "name": "CG12348-PH",
                    "type": "synonym"
                },
                {
                    "name": "F-c transcription unit",
                    "type": "synonym"
                },
                {
                    "name": "Protein minisleep",
                    "type": "synonym"
                },
                {
                    "name": "Sh-PH",
                    "type": "synonym"
                },
                {
                    "name": "Shaker-downheld",
                    "type": "synonym"
                },
                {
                    "name": "minisleep",
                    "type": "synonym"
                },
                {
                    "name": "shaker, isoform H",
                    "type": "synonym"
                },
                {
                    "name": "shaker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sh",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH03046",
                    "type": "synonym"
                },
                {
                    "name": "CG12348",
                    "type": "synonym"
                },
                {
                    "name": "CG17860",
                    "type": "synonym"
                },
                {
                    "name": "CG7640",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12348",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12348",
                    "type": "synonym"
                },
                {
                    "name": "EKO",
                    "type": "synonym"
                },
                {
                    "name": "Eko",
                    "type": "synonym"
                },
                {
                    "name": "F-c",
                    "type": "synonym"
                },
                {
                    "name": "K[[v]]1",
                    "type": "synonym"
                },
                {
                    "name": "Kv1",
                    "type": "synonym"
                },
                {
                    "name": "SH",
                    "type": "synonym"
                },
                {
                    "name": "Sha",
                    "type": "synonym"
                },
                {
                    "name": "Shw",
                    "type": "synonym"
                },
                {
                    "name": "Sh",
                    "type": "synonym"
                },
                {
                    "name": "V-I",
                    "type": "synonym"
                },
                {
                    "name": "minisleep",
                    "type": "synonym"
                },
                {
                    "name": "mns",
                    "type": "synonym"
                },
                {
                    "name": "sha",
                    "type": "synonym"
                },
                {
                    "name": "sh",
                    "type": "synonym"
                }
            ],
            "record_id": "P08510-1",
            "evidence": [
                {
                    "id": "0080416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080416"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TE73-1",
            "uniprot_ac": "Q8TE73",
            "uniprot_id": "DYH5_HUMAN",
            "refseq_ac": "NP_001360",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dynein axonemal heavy chain 5",
                    "type": "recommended"
                },
                {
                    "name": "Axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "axonemal beta dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "ciliary dynein heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "dynein axonemal heavy chain 5",
                    "type": "synonym"
                },
                {
                    "name": "dynein heavy chain 5, axonemal",
                    "type": "synonym"
                },
                {
                    "name": "dynein, axonemal, heavy polypeptide 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DNAH5",
                    "type": "recommended"
                },
                {
                    "name": "CILD3",
                    "type": "synonym"
                },
                {
                    "name": "DNAH5",
                    "type": "synonym"
                },
                {
                    "name": "DNAHC5",
                    "type": "synonym"
                },
                {
                    "name": "HL1",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1603",
                    "type": "synonym"
                },
                {
                    "name": "KTGNR",
                    "type": "synonym"
                },
                {
                    "name": "PCD",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TE73-1",
            "evidence": [
                {
                    "id": "0080416",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080416"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080416"
}