{
    "disease_id": "DOID:0080415",
    "recommended_name": {
        "id": "DOID:0080415",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080415",
        "name": "developmental and epileptic encephalopathy 23",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first months of life of intractable seizures, severely impaired psychomotor development with poor or absent speech, cortical blindness, and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the DOCK7 gene on chromosome 1p31."
    },
    "synonyms": [
        {
            "id": "DOID:0080415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080415",
            "name": "Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080415",
            "name": "Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "DOID:0080415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080415",
            "name": "DEE23",
            "description": ""
        },
        {
            "id": "DOID:0080415",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080415",
            "name": "early infantile epileptic encephalopathy 23",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "developmental and epileptic encephalopathy, 23",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "EIEE23",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "developmental and epileptic encephalopathy 23",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "developmental and epileptic encephalopathy, 23",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "epileptic encephalopathy, early infantile, 23",
            "description": ""
        },
        {
            "id": "MONDO:0014371",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "name": "epileptic encephalopathy, early infantile, type 23",
            "description": ""
        },
        {
            "id": "MIM:615859",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615859",
            "name": "Developmental and epileptic encephalopathy 23",
            "description": "Developmental and epileptic encephalopathy 23"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080415"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080415",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080415",
            "categories": []
        },
        {
            "id": "MONDO:0014371",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014371",
            "categories": []
        },
        {
            "id": "MIM:615859",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615859",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M9PMX5-1",
            "uniprot_ac": "A0A8M9PMX5",
            "uniprot_id": "A0A8M9PMX5_DANRE",
            "refseq_ac": "XP_021332847",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 7 isoform X9",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 7 isoform X9",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "dock7",
                    "type": "recommended"
                },
                {
                    "name": "dock7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M9PMX5-1",
            "evidence": [
                {
                    "id": "0080415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8R1A4-1",
            "uniprot_ac": "Q8R1A4",
            "uniprot_id": "DOCK7_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 7",
                    "type": "recommended"
                },
                {
                    "name": "Protein moonlight",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dock7",
                    "type": "recommended"
                },
                {
                    "name": "Gm430",
                    "type": "synonym"
                },
                {
                    "name": "Kiaa1771",
                    "type": "synonym"
                },
                {
                    "name": "Mnlt",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8R1A4-1",
            "evidence": [
                {
                    "id": "0080415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96N67-1",
            "uniprot_ac": "Q96N67",
            "uniprot_id": "DOCK7_HUMAN",
            "refseq_ac": "NP_001258928",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis protein 7",
                    "type": "recommended"
                },
                {
                    "name": "dedicator of cytokinesis protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "DOCK7",
                    "type": "recommended"
                },
                {
                    "name": "DEE23",
                    "type": "synonym"
                },
                {
                    "name": "DOCK7",
                    "type": "synonym"
                },
                {
                    "name": "EIEE23",
                    "type": "synonym"
                },
                {
                    "name": "KIAA1771",
                    "type": "synonym"
                },
                {
                    "name": "ZIR2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96N67-1",
            "evidence": [
                {
                    "id": "615859",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615859"
                },
                {
                    "id": "0080415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ACL2-1",
            "uniprot_ac": "A0A8I6ACL2",
            "uniprot_id": "A0A8I6ACL2_RAT",
            "refseq_ac": "NP_001402814",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Dedicator of cytokinesis 7",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 7 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "dedicator of cytokinesis protein 7",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dock7",
                    "type": "recommended"
                },
                {
                    "name": "Dock7",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ACL2-1",
            "evidence": [
                {
                    "id": "0080415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080415"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPI9-1",
            "uniprot_ac": "Q9VPI9",
            "uniprot_id": "Q9VPI9_DROME",
            "refseq_ac": "NP_608489",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG11376-PA",
                    "type": "synonym"
                },
                {
                    "name": "Zir-PA",
                    "type": "synonym"
                },
                {
                    "name": "Zizimin-related",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Zir",
                    "type": "recommended"
                },
                {
                    "name": "CG11376",
                    "type": "synonym"
                },
                {
                    "name": "Dm zir",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG11376",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG11376",
                    "type": "synonym"
                },
                {
                    "name": "FBgn 31216",
                    "type": "synonym"
                },
                {
                    "name": "Zir",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:Posey54",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPI9-1",
            "evidence": [
                {
                    "id": "0080415",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080415"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080415"
}