{
    "disease_id": "DOID:0070385",
    "recommended_name": {
        "id": "DOID:0070385",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070385",
        "name": "developmental and epileptic encephalopathy 99",
        "description": "A developmental and epileptic encephalopathy characterized by onset of seizures in early childhood that has_material_basis_in heterozygous mutation in the ATP1A3 gene on chromosome 19q13."
    },
    "synonyms": [
        {
            "id": "DOID:0070385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070385",
            "name": "DEE99",
            "description": ""
        },
        {
            "id": "DOID:0070385",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070385",
            "name": "early infantile epileptic encephalopathy 99",
            "description": ""
        },
        {
            "id": "MONDO:0030473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030473",
            "name": "developmental and epileptic encephalopathy 99",
            "description": ""
        },
        {
            "id": "MONDO:0030473",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030473",
            "name": "DEE99",
            "description": ""
        },
        {
            "id": "MIM:619606",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619606",
            "name": "Developmental and epileptic encephalopathy 99",
            "description": "Developmental and epileptic encephalopathy 99"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070385"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070385",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070385",
            "categories": []
        },
        {
            "id": "MONDO:0030473",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030473",
            "categories": []
        },
        {
            "id": "MIM:619606",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619606",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6P271-1",
            "uniprot_ac": "Q6P271",
            "uniprot_id": "Q6P271_DANRE",
            "refseq_ac": "NP_571759",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, alpha 3a polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit alpha-3a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "atp1a3a",
                    "type": "recommended"
                },
                {
                    "name": "atp1a3a",
                    "type": "synonym"
                },
                {
                    "name": "atp[a]3B",
                    "type": "synonym"
                },
                {
                    "name": "cb705",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj56a06",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6P271-1",
            "evidence": [
                {
                    "id": "0070385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6PIC6-1",
            "uniprot_ac": "Q6PIC6",
            "uniprot_id": "AT1A3_MOUSE",
            "refseq_ac": "NP_001277398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.13",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha(III) subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit alpha-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit alpha-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp1a3",
                    "type": "recommended"
                },
                {
                    "name": "Atp1a3",
                    "type": "synonym"
                },
                {
                    "name": "Atpa-2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PIC6-1",
            "evidence": [
                {
                    "id": "0070385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13637-1",
            "uniprot_ac": "P13637",
            "uniprot_id": "AT1A3_HUMAN",
            "refseq_ac": "NP_001243142",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.13",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, alpha 3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha(III) subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na+, K+ activated adenosine triphosphatase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na+/K+ ATPase 3",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium-potassium ATPase catalytic subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium-potassium-ATPase, alpha 3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase alpha-3 chain",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit alpha-3 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit alpha-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ATP1A3",
                    "type": "recommended"
                },
                {
                    "name": "AHC2",
                    "type": "synonym"
                },
                {
                    "name": "ATP1A3",
                    "type": "synonym"
                },
                {
                    "name": "CAPOS",
                    "type": "synonym"
                },
                {
                    "name": "DEE99",
                    "type": "synonym"
                },
                {
                    "name": "DYT12",
                    "type": "synonym"
                },
                {
                    "name": "RDP",
                    "type": "synonym"
                }
            ],
            "record_id": "P13637-1",
            "evidence": [
                {
                    "id": "619606",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619606"
                },
                {
                    "id": "0070385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P06687-1",
            "uniprot_ac": "P06687",
            "uniprot_id": "AT1A3_RAT",
            "refseq_ac": "NP_036638",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit alpha-3",
                    "type": "recommended"
                },
                {
                    "name": "7.2.2.13",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Na+/K+ transporting, alpha 3 polypeptide",
                    "type": "synonym"
                },
                {
                    "name": "ATPase, Na+K+ transporting, alpha 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "NA,K-ATPase alpha subunit 3",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha(III) subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha-3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na+/K+ -ATPase alpha 3 subunit",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump subunit alpha-3",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium-transporting ATPase subunit alpha-3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atp1a3",
                    "type": "recommended"
                },
                {
                    "name": "Atp1a3",
                    "type": "synonym"
                },
                {
                    "name": "Atpa1a3",
                    "type": "synonym"
                }
            ],
            "record_id": "P06687-1",
            "evidence": [
                {
                    "id": "0070385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13607-1",
            "uniprot_ac": "P13607",
            "uniprot_id": "ATNA_DROME",
            "refseq_ac": "NP_001262790",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/potassium-transporting ATPase subunit alpha",
                    "type": "recommended"
                },
                {
                    "name": "(Na[+] + K[+])-ATPase alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "(Na[+],K[+])ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "7.2.2.13",
                    "type": "synonym"
                },
                {
                    "name": "ATPalpha",
                    "type": "synonym"
                },
                {
                    "name": "Atpalpha-PJ",
                    "type": "synonym"
                },
                {
                    "name": "CG5670-PJ",
                    "type": "synonym"
                },
                {
                    "name": "Na pump alpha subunit, isoform J",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/K(+) ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na+,K+ ATPase alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na+K+ ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na, K ATPase a subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na,K ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na,K-ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na,K-ATPase alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "NaK-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[ +], K[ +] -ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+] pump alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na[+], K[+] ATPase alpha",
                    "type": "synonym"
                },
                {
                    "name": "Na[+],K[+] ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na[+],K[+]-ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]-K[+] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/K[+] ATPase (alpha subunit)",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/K[+] ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/K[+]-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]K[+] ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]K[+]ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Sodium pump subunit alpha",
                    "type": "synonym"
                },
                {
                    "name": "alpha-subunit of ATPase",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "sodium pump alpha-subunit",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Atpalpha",
                    "type": "recommended"
                },
                {
                    "name": "(Na[+]/k[+])-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "ATP-alpha",
                    "type": "synonym"
                },
                {
                    "name": "ATPBagr",
                    "type": "synonym"
                },
                {
                    "name": "ATPalpha1",
                    "type": "synonym"
                },
                {
                    "name": "ATPalpha",
                    "type": "synonym"
                },
                {
                    "name": "ATPa",
                    "type": "synonym"
                },
                {
                    "name": "Atp a",
                    "type": "synonym"
                },
                {
                    "name": "Atpalpha",
                    "type": "synonym"
                },
                {
                    "name": "Atpa",
                    "type": "synonym"
                },
                {
                    "name": "Atp",
                    "type": "synonym"
                },
                {
                    "name": "CG5670",
                    "type": "synonym"
                },
                {
                    "name": "Da-47",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5670",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5670",
                    "type": "synonym"
                },
                {
                    "name": "JY",
                    "type": "synonym"
                },
                {
                    "name": "K ATPase",
                    "type": "synonym"
                },
                {
                    "name": "K+ ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "K+-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "K-ATPase alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "K-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "K[+] -ATPase",
                    "type": "synonym"
                },
                {
                    "name": "K[+] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "K[+]-ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "K[+]-ATPase alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "K[+]-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "K[+]ATPase",
                    "type": "synonym"
                },
                {
                    "name": "NKA",
                    "type": "synonym"
                },
                {
                    "name": "Na+-K+-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na+/K+ ATPase alpha subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na+/K+-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na-p",
                    "type": "synonym"
                },
                {
                    "name": "Na/K ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na/K-ATPase alpha-subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na/K-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "NaK ATPase",
                    "type": "synonym"
                },
                {
                    "name": "NaK-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "NaK",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]-K[+]-ATPase alpha[[5]]-subunit",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/K[+] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/K[+]-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]/K[+]ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]K[+] ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]K[+]-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]K[+]ATPase-alpha",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]K[+]ATPase",
                    "type": "synonym"
                },
                {
                    "name": "Na[+]",
                    "type": "synonym"
                },
                {
                    "name": "Na",
                    "type": "synonym"
                },
                {
                    "name": "alpha-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "atpalpha",
                    "type": "synonym"
                },
                {
                    "name": "dnATPase",
                    "type": "synonym"
                },
                {
                    "name": "k[+])-ATPase",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01164",
                    "type": "synonym"
                },
                {
                    "name": "l(3)01453",
                    "type": "synonym"
                },
                {
                    "name": "l(3)04492",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j3B2",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j3B7",
                    "type": "synonym"
                },
                {
                    "name": "l(3)j6A4",
                    "type": "synonym"
                },
                {
                    "name": "l(3)rM454",
                    "type": "synonym"
                },
                {
                    "name": "l(3)ry136",
                    "type": "synonym"
                },
                {
                    "name": "sodium/potassium transporting ATPase alpha",
                    "type": "synonym"
                }
            ],
            "record_id": "P13607-1",
            "evidence": [
                {
                    "id": "0070385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070385"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P26441-1",
            "uniprot_ac": "P26441",
            "uniprot_id": "CNTF_HUMAN",
            "refseq_ac": "NP_000605",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Ciliary neurotrophic factor",
                    "type": "recommended"
                },
                {
                    "name": "CNTF",
                    "type": "synonym"
                },
                {
                    "name": "Ciliary Neuronotrophic Factor",
                    "type": "synonym"
                },
                {
                    "name": "ciliary neurotrophic factor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CNTF",
                    "type": "recommended"
                },
                {
                    "name": "CNTF",
                    "type": "synonym"
                },
                {
                    "name": "HCNTF",
                    "type": "synonym"
                }
            ],
            "record_id": "P26441-1",
            "evidence": [
                {
                    "id": "0070385",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070385"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070385"
}