{
    "disease_id": "DOID:0080449",
    "recommended_name": {
        "id": "DOID:0080449",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080449",
        "name": "developmental and epileptic encephalopathy 16",
        "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has_material_basis_in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080449",
            "name": "DEE16",
            "description": ""
        },
        {
            "id": "DOID:0080449",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080449",
            "name": "early infantile epileptic encephalopathy 16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "developmental and epileptic encephalopathy, 16",
            "description": "A developmental and epileptic encephalopathy characterized by seizure onset in the first weeks or months of life, delayed or regression of psychomotor development, and hypotonia that has material basis in homozygous or compound heterozygous mutation in the TBC1D24 gene on chromosome 16p13."
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "DEE16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "EIEE16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "developmental and epileptic encephalopathy 16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "epileptic encephalopathy, early infantile, 16",
            "description": ""
        },
        {
            "id": "MONDO:0014133",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "name": "epileptic encephalopathy, early infantile, type 16",
            "description": ""
        },
        {
            "id": "MIM:615338",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615338",
            "name": "Developmental and epileptic encephalopathy 16",
            "description": "Developmental and epileptic encephalopathy 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080449"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080449",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080449",
            "categories": []
        },
        {
            "id": "MONDO:0014133",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014133",
            "categories": []
        },
        {
            "id": "MIM:615338",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615338",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RN56-1",
            "uniprot_ac": "A0A8M1RN56",
            "uniprot_id": "A0A8M1RN56_DANRE",
            "refseq_ac": "XP_003201409",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 24 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "tbc1d24",
                    "type": "recommended"
                },
                {
                    "name": "tbc1d24",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RN56-1",
            "evidence": [
                {
                    "id": "0080449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3UUG6-1",
            "uniprot_ac": "Q3UUG6",
            "uniprot_id": "TBC24_MOUSE",
            "refseq_ac": "NP_001157319",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 24 isoform a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d24",
                    "type": "recommended"
                },
                {
                    "name": "9630033P11",
                    "type": "synonym"
                },
                {
                    "name": "C530046L02Rik",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1171",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d24",
                    "type": "synonym"
                },
                {
                    "name": "mKIAA1171",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3UUG6-1",
            "evidence": [
                {
                    "id": "0080449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ULP9-1",
            "uniprot_ac": "Q9ULP9",
            "uniprot_id": "TBC24_HUMAN",
            "refseq_ac": "NP_065756",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "Infantile myoclonic epilepsy",
                    "type": "synonym"
                },
                {
                    "name": "TBC/LysM-associated domain containing 6",
                    "type": "synonym"
                },
                {
                    "name": "TBC1 domain family member 24 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "deafness, autosomal dominant 65",
                    "type": "synonym"
                },
                {
                    "name": "skywalker homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "TBC1D24",
                    "type": "recommended"
                },
                {
                    "name": "DEE16",
                    "type": "synonym"
                },
                {
                    "name": "DFNA65",
                    "type": "synonym"
                },
                {
                    "name": "DFNB86",
                    "type": "synonym"
                },
                {
                    "name": "DOORS",
                    "type": "synonym"
                },
                {
                    "name": "EIEE16",
                    "type": "synonym"
                },
                {
                    "name": "EIM",
                    "type": "synonym"
                },
                {
                    "name": "EPRPDC",
                    "type": "synonym"
                },
                {
                    "name": "FIME",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1171",
                    "type": "synonym"
                },
                {
                    "name": "TBC1D24",
                    "type": "synonym"
                },
                {
                    "name": "TLDC6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ULP9-1",
            "evidence": [
                {
                    "id": "615338",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615338"
                },
                {
                    "id": "0080449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0G2K5B0-1",
            "uniprot_ac": "A0A0G2K5B0",
            "uniprot_id": "TBC24_RAT",
            "refseq_ac": "XP_038941277",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "TBC1 domain family member 24",
                    "type": "recommended"
                },
                {
                    "name": "TBC1 domain family member 24 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Tbc1d24",
                    "type": "recommended"
                },
                {
                    "name": "RGD1306143",
                    "type": "synonym"
                },
                {
                    "name": "Tbc1d24",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0G2K5B0-1",
            "evidence": [
                {
                    "id": "0080449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080449"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VIH7-1",
            "uniprot_ac": "Q9VIH7",
            "uniprot_id": "SKY_DROME",
            "refseq_ac": "NP_001163026",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GTPase-activating protein skywalker",
                    "type": "recommended"
                },
                {
                    "name": "CG9339-PI",
                    "type": "synonym"
                },
                {
                    "name": "sky-PI",
                    "type": "synonym"
                },
                {
                    "name": "skywalker, isoform I",
                    "type": "synonym"
                },
                {
                    "name": "skywalker",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "sky",
                    "type": "recommended"
                },
                {
                    "name": "CG14399",
                    "type": "synonym"
                },
                {
                    "name": "CG9339",
                    "type": "synonym"
                },
                {
                    "name": "CG9340",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9339",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9339",
                    "type": "synonym"
                },
                {
                    "name": "Sky",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0118547.455",
                    "type": "synonym"
                },
                {
                    "name": "sky",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VIH7-1",
            "evidence": [
                {
                    "id": "0080449",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080449"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080449"
}