{
    "disease_id": "DOID:0070394",
    "recommended_name": {
        "id": "DOID:0070394",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070394",
        "name": "developmental and epileptic encephalopathy 108",
        "description": "A developmental and epileptic encephalopathy characterized by onset of multiple types of seizures in the first 2 years of life that has_material_basis_in heterozygous mutation in the MAST3 gene on chromosome 19p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070394",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070394",
            "name": "DEE108",
            "description": ""
        },
        {
            "id": "DOID:0070394",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070394",
            "name": "early infantile epileptic encephalopathy 108",
            "description": ""
        },
        {
            "id": "MONDO:0859314",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859314",
            "name": "developmental and epileptic encephalopathy 108",
            "description": ""
        },
        {
            "id": "MIM:620115",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/620115",
            "name": "Developmental and epileptic encephalopathy 108",
            "description": "Developmental and epileptic encephalopathy 108"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070394"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070394",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070394",
            "categories": []
        },
        {
            "id": "MONDO:0859314",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0859314",
            "categories": []
        },
        {
            "id": "MIM:620115",
            "database": "MIM",
            "url": "https://www.omim.org/entry/620115",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PPY9-1",
            "uniprot_ac": "A0A8M9PPY9",
            "uniprot_id": "A0A8M9PPY9_DANRE",
            "refseq_ac": "XP_021326924",
            "glycoprotein": "yes",
            "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": "microtubule-associated serine/threonine-protein kinase 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mast3a",
                    "type": "recommended"
                },
                {
                    "name": "mast3a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PPY9-1",
            "evidence": [
                {
                    "id": "0070394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8M3AXH0-1",
            "uniprot_ac": "A0A8M3AXH0",
            "uniprot_id": "A0A8M3AXH0_DANRE",
            "refseq_ac": "XP_009304191",
            "glycoprotein": "yes",
            "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": "microtubule-associated serine/threonine-protein kinase 3 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "mast3b",
                    "type": "recommended"
                },
                {
                    "name": "mast3b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AXH0-1",
            "evidence": [
                {
                    "id": "0070394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3U214-1",
            "uniprot_ac": "Q3U214",
            "uniprot_id": "MAST3_MOUSE",
            "refseq_ac": "NP_955012",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated serine/threonine-protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 3 isoform 5",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mast3",
                    "type": "recommended"
                },
                {
                    "name": "Kiaa0561",
                    "type": "synonym"
                },
                {
                    "name": "Mast3",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA0561",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3U214-1",
            "evidence": [
                {
                    "id": "0070394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O60307-1",
            "uniprot_ac": "O60307",
            "uniprot_id": "MAST3_HUMAN",
            "refseq_ac": "NP_055831",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Microtubule-associated serine/threonine-protein kinase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 3 isoform 20",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MAST3",
                    "type": "recommended"
                },
                {
                    "name": "DEE108",
                    "type": "synonym"
                },
                {
                    "name": "KIAA0561",
                    "type": "synonym"
                },
                {
                    "name": "MAST3",
                    "type": "synonym"
                }
            ],
            "record_id": "O60307-1",
            "evidence": [
                {
                    "id": "620115",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/620115"
                },
                {
                    "id": "0070394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6A5R8-1",
            "uniprot_ac": "A0A8I6A5R8",
            "uniprot_id": "A0A8I6A5R8_RAT",
            "refseq_ac": "XP_038950763",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "non-specific serine/threonine protein kinase",
                    "type": "recommended"
                },
                {
                    "name": "2.7.11.1",
                    "type": "synonym"
                },
                {
                    "name": "microtubule-associated serine/threonine-protein kinase 3 isoform X3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mast3",
                    "type": "recommended"
                },
                {
                    "name": "Mast3",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6A5R8-1",
            "evidence": [
                {
                    "id": "0070394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070394"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VUQ9-1",
            "uniprot_ac": "Q9VUQ9",
            "uniprot_id": "Q9VUQ9_DROME",
            "refseq_ac": "NP_001261884",
            "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": "CG6498-PB",
                    "type": "synonym"
                },
                {
                    "name": "dop-PB",
                    "type": "synonym"
                },
                {
                    "name": "drop out, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dop",
                    "type": "recommended"
                },
                {
                    "name": "CG6498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6498",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6498",
                    "type": "synonym"
                },
                {
                    "name": "MAST 205",
                    "type": "synonym"
                },
                {
                    "name": "MAST205",
                    "type": "synonym"
                },
                {
                    "name": "dop",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VUQ9-1",
            "evidence": [
                {
                    "id": "0070394",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070394"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070394"
}