{
    "disease_id": "DOID:0080465",
    "recommended_name": {
        "id": "DOID:0080465",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080465",
        "name": "developmental and epileptic encephalopathy 30",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first few months of life of refractory seizures andseverely impaired or absent developmental progress that has_material_basis_in heterozygous mutation in the SIK1 gene on chromosome 21q22."
    },
    "synonyms": [
        {
            "id": "DOID:0080465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080465",
            "name": "DEE30",
            "description": ""
        },
        {
            "id": "DOID:0080465",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080465",
            "name": "early infantile epileptic encephalopathy 30",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "developmental and epileptic encephalopathy, 30",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene."
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "DEE30",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "EIEE30",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "SIK1 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "developmental and epileptic encephalopathy 30",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "early infantile epileptic encephalopathy caused by mutation in SIK1",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "epileptic encephalopathy, early infantile, 30",
            "description": ""
        },
        {
            "id": "MONDO:0014595",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "name": "epileptic encephalopathy, early infantile, type 30",
            "description": ""
        },
        {
            "id": "MIM:616341",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616341",
            "name": "Developmental and epileptic encephalopathy 30",
            "description": "Developmental and epileptic encephalopathy 30"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080465"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080465",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080465",
            "categories": []
        },
        {
            "id": "MONDO:0014595",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014595",
            "categories": []
        },
        {
            "id": "MIM:616341",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616341",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S6K0-1",
            "uniprot_ac": "B0S6K0",
            "uniprot_id": "B0S6K0_DANRE",
            "refseq_ac": "NP_001119855",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SIK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sik1",
                    "type": "recommended"
                },
                {
                    "name": "fj78h07",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-235e18.3",
                    "type": "synonym"
                },
                {
                    "name": "sik1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj78h07",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S6K0-1",
            "evidence": [
                {
                    "id": "0080465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q60670-1",
            "uniprot_ac": "Q60670",
            "uniprot_id": "SIK1_MOUSE",
            "refseq_ac": "NP_034961",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase SIK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "HRT-20",
                    "type": "synonym"
                },
                {
                    "name": "Myocardial SNF1-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "Probable serine/threonine protein kinase SNF1LK (HRT-20) (Myocardial SNF1-like kinase)",
                    "type": "synonym"
                },
                {
                    "name": "SIK-1",
                    "type": "synonym"
                },
                {
                    "name": "Salt-inducible kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SNF1-like kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SNF1LK",
                    "type": "synonym"
                },
                {
                    "name": "myocardial SNF1-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "salt-inducible protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SIK1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SNF1-like kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SNF1LK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sik1",
                    "type": "recommended"
                },
                {
                    "name": "Hrt-20",
                    "type": "synonym"
                },
                {
                    "name": "Msk",
                    "type": "synonym"
                },
                {
                    "name": "Sik-1",
                    "type": "synonym"
                },
                {
                    "name": "Sik1",
                    "type": "synonym"
                },
                {
                    "name": "Sik",
                    "type": "synonym"
                },
                {
                    "name": "Snf1lk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q60670-1",
            "evidence": [
                {
                    "id": "0080465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P57059-1",
            "uniprot_ac": "P57059",
            "uniprot_id": "SIK1_HUMAN",
            "refseq_ac": "NP_001307572",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase SIK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "SIK-1",
                    "type": "synonym"
                },
                {
                    "name": "Salt-inducible kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SNF1-like kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SNF1LK",
                    "type": "synonym"
                },
                {
                    "name": "probable serine/threonine-protein kinase SIK1B",
                    "type": "synonym"
                },
                {
                    "name": "putative serine/threonine-protein kinase SIK1B",
                    "type": "synonym"
                },
                {
                    "name": "salt-inducible kinase 1B",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SIK1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SIK1",
                    "type": "recommended"
                },
                {
                    "name": "LOC102724428",
                    "type": "synonym"
                },
                {
                    "name": "SIK-1",
                    "type": "synonym"
                },
                {
                    "name": "SIK1B",
                    "type": "synonym"
                },
                {
                    "name": "SIK1",
                    "type": "synonym"
                },
                {
                    "name": "SIK",
                    "type": "synonym"
                },
                {
                    "name": "SNF1LK",
                    "type": "synonym"
                }
            ],
            "record_id": "P57059-1",
            "evidence": [
                {
                    "id": "616341",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616341"
                },
                {
                    "id": "0080465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1U5-1",
            "uniprot_ac": "Q9R1U5",
            "uniprot_id": "SIK1_RAT",
            "refseq_ac": "NP_067725",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Serine/threonine-protein kinase SIK1",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "Protein kinase KID2",
                    "type": "synonym"
                },
                {
                    "name": "SIK-1",
                    "type": "synonym"
                },
                {
                    "name": "SNF1-like kinase",
                    "type": "synonym"
                },
                {
                    "name": "Salt-inducible kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SNF1-like kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "Serine/threonine-protein kinase SNF1LK",
                    "type": "synonym"
                },
                {
                    "name": "protein kinase KID2",
                    "type": "synonym"
                },
                {
                    "name": "salt-inducible protein kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SIK1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SNF1-like kinase 1",
                    "type": "synonym"
                },
                {
                    "name": "serine/threonine-protein kinase SNF1LK",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sik1",
                    "type": "recommended"
                },
                {
                    "name": "Kid2",
                    "type": "synonym"
                },
                {
                    "name": "Sik1",
                    "type": "synonym"
                },
                {
                    "name": "Sik",
                    "type": "synonym"
                },
                {
                    "name": "Snf1lk",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9R1U5-1",
            "evidence": [
                {
                    "id": "0080465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080465"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W532-1",
            "uniprot_ac": "Q9W532",
            "uniprot_id": "Q9W532_DROME",
            "refseq_ac": "NP_569972",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "CG4290-PA",
                    "type": "synonym"
                },
                {
                    "name": "Salt-induced kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Salt-inducible kinase 2",
                    "type": "synonym"
                },
                {
                    "name": "Sik2-PA",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Sik2",
                    "type": "recommended"
                },
                {
                    "name": "CG4290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4290",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4290",
                    "type": "synonym"
                },
                {
                    "name": "EG:22E5.8",
                    "type": "synonym"
                },
                {
                    "name": "SIK2",
                    "type": "synonym"
                },
                {
                    "name": "SIK",
                    "type": "synonym"
                },
                {
                    "name": "Sik2",
                    "type": "synonym"
                },
                {
                    "name": "sik2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W532-1",
            "evidence": [
                {
                    "id": "0080465",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080465"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080465"
}