{
    "disease_id": "DOID:0080429",
    "recommended_name": {
        "id": "DOID:0080429",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080429",
        "name": "developmental and epileptic encephalopathy 24",
        "description": "A developmental and epileptic encephalopathy characterized by onset in infancy of refactory seizures, severely impaired global development, intellectual disability, and behavioral abnormalities that has_material_basis_in heterozygous mutation in the HCN1 gene on chromosome 5p12."
    },
    "synonyms": [
        {
            "id": "DOID:0080429",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080429",
            "name": "DEE24",
            "description": ""
        },
        {
            "id": "DOID:0080429",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080429",
            "name": "early infantile epileptic encephalopathy 24",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "developmental and epileptic encephalopathy, 24",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene."
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "DEE24",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "EIEE24",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "HCN1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "developmental and epileptic encephalopathy 24",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "early infantile epileptic encephalopathy caused by mutation in HCN1",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "epileptic encephalopathy, early infantile, 24",
            "description": ""
        },
        {
            "id": "MONDO:0014377",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "name": "epileptic encephalopathy, early infantile, type 24",
            "description": ""
        },
        {
            "id": "MIM:615871",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615871",
            "name": "Developmental and epileptic encephalopathy 24",
            "description": "Developmental and epileptic encephalopathy 24"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080429"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080429",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080429",
            "categories": []
        },
        {
            "id": "MONDO:0014377",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014377",
            "categories": []
        },
        {
            "id": "MIM:615871",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615871",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O88704-1",
            "uniprot_ac": "O88704",
            "uniprot_id": "HCN1_MOUSE",
            "refseq_ac": "NP_034538",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "recommended"
                },
                {
                    "name": "BCNG-1",
                    "type": "synonym"
                },
                {
                    "name": "Brain cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "HAC-2",
                    "type": "synonym"
                },
                {
                    "name": "Hyperpolarization-activated cation channel 2",
                    "type": "synonym"
                },
                {
                    "name": "brain cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "hyperpolarization-activated cation channel 2",
                    "type": "synonym"
                },
                {
                    "name": "hyperpolarization-activated, cyclic nucleotide-gated K+ 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hcn1",
                    "type": "recommended"
                },
                {
                    "name": "Bcng1",
                    "type": "synonym"
                },
                {
                    "name": "C630013B14Rik",
                    "type": "synonym"
                },
                {
                    "name": "HAC2",
                    "type": "synonym"
                },
                {
                    "name": "Hac2",
                    "type": "synonym"
                },
                {
                    "name": "Hcn1",
                    "type": "synonym"
                }
            ],
            "record_id": "O88704-1",
            "evidence": [
                {
                    "id": "0080429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60741-1",
            "uniprot_ac": "O60741",
            "uniprot_id": "HCN1_HUMAN",
            "refseq_ac": "NP_066550",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "recommended"
                },
                {
                    "name": "BCNG-1",
                    "type": "synonym"
                },
                {
                    "name": "Brain cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "MUT-D534H potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "MUT-L400P potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "MUT-M243delinsTL potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "brain cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "HCN1",
                    "type": "recommended"
                },
                {
                    "name": "BCNG-1",
                    "type": "synonym"
                },
                {
                    "name": "BCNG1",
                    "type": "synonym"
                },
                {
                    "name": "DEE24",
                    "type": "synonym"
                },
                {
                    "name": "EIEE24",
                    "type": "synonym"
                },
                {
                    "name": "GEFSP10",
                    "type": "synonym"
                },
                {
                    "name": "HAC-2",
                    "type": "synonym"
                },
                {
                    "name": "HCN1",
                    "type": "synonym"
                }
            ],
            "record_id": "O60741-1",
            "evidence": [
                {
                    "id": "615871",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615871"
                },
                {
                    "id": "0080429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JKB0-1",
            "uniprot_ac": "Q9JKB0",
            "uniprot_id": "HCN1_RAT",
            "refseq_ac": "NP_445827",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "recommended"
                },
                {
                    "name": "potassium/sodium hyperpolarization-activated cyclic nucleotide-gated channel 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Hcn1",
                    "type": "recommended"
                },
                {
                    "name": "Hcn1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JKB0-1",
            "evidence": [
                {
                    "id": "0080429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080429"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z9N7-1",
            "uniprot_ac": "A1Z9N7",
            "uniprot_id": "A1Z9N7_DROME",
            "refseq_ac": "NP_001033948",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG8585-PE",
                    "type": "synonym"
                },
                {
                    "name": "I[[h]] channel, isoform E",
                    "type": "synonym"
                },
                {
                    "name": "Ih channel",
                    "type": "synonym"
                },
                {
                    "name": "Ih-PE",
                    "type": "synonym"
                },
                {
                    "name": "Ih-channel",
                    "type": "synonym"
                },
                {
                    "name": "drosophila melanogaster I[[h]]-channel",
                    "type": "synonym"
                },
                {
                    "name": "putative Ih-channel",
                    "type": "synonym"
                },
                {
                    "name": "putative-voltage-and-cyclic-nucleotide-gated-ion-channel",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Ih",
                    "type": "recommended"
                },
                {
                    "name": "BcDNA:GH25778",
                    "type": "synonym"
                },
                {
                    "name": "CG8585",
                    "type": "synonym"
                },
                {
                    "name": "CR30068",
                    "type": "synonym"
                },
                {
                    "name": "DMIH",
                    "type": "synonym"
                },
                {
                    "name": "DmIh",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG8585",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG8585",
                    "type": "synonym"
                },
                {
                    "name": "I[[h]]",
                    "type": "synonym"
                },
                {
                    "name": "Ih",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z9N7-1",
            "evidence": [
                {
                    "id": "0080429",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080429"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080429"
}