{
    "disease_id": "DOID:0112223",
    "recommended_name": {
        "id": "DOID:0112223",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112223",
        "name": "developmental and epileptic encephalopathy 89",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or months of life of seizures, profound global developmental delay with impaired intellectual development, absent speech, axial hypotonia, and spastic quadriparesis that has_material_basis_in homozygous or compound heterozygous mutation in the GAD1 gene on chromosome 2q31.1."
    },
    "synonyms": [
        {
            "id": "DOID:0112223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112223",
            "name": "DEE89",
            "description": ""
        },
        {
            "id": "DOID:0112223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112223",
            "name": "early infantile epileptic encephalopathy 89",
            "description": ""
        },
        {
            "id": "MONDO:0030856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030856",
            "name": "developmental and epileptic encephalopathy 89",
            "description": ""
        },
        {
            "id": "MONDO:0030856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030856",
            "name": "DEE89",
            "description": ""
        },
        {
            "id": "MONDO:0030856",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030856",
            "name": "developmental and epileptic encephalopathy 89",
            "description": ""
        },
        {
            "id": "MIM:619124",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/619124",
            "name": "Developmental and epileptic encephalopathy 89",
            "description": "Developmental and epileptic encephalopathy 89"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112223"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112223",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112223",
            "categories": []
        },
        {
            "id": "MONDO:0030856",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0030856",
            "categories": []
        },
        {
            "id": "MIM:619124",
            "database": "MIM",
            "url": "https://www.omim.org/entry/619124",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1RDR2-1",
            "uniprot_ac": "A0A8M1RDR2",
            "uniprot_id": "A0A8M1RDR2_DANRE",
            "refseq_ac": "XP_002663350",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "gad1a",
                    "type": "recommended"
                },
                {
                    "name": "gad1a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1RDR2-1",
            "evidence": [
                {
                    "id": "0112223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P48318-1",
            "uniprot_ac": "P48318",
            "uniprot_id": "DCE1_MOUSE",
            "refseq_ac": "NP_032103",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "67 kDa glutamic acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "GAD-67",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 67 kDa isoform",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 isoform GAD67",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gad1",
                    "type": "recommended"
                },
                {
                    "name": "EP10",
                    "type": "synonym"
                },
                {
                    "name": "Gad-1",
                    "type": "synonym"
                },
                {
                    "name": "Gad1",
                    "type": "synonym"
                },
                {
                    "name": "Gad67",
                    "type": "synonym"
                }
            ],
            "record_id": "P48318-1",
            "evidence": [
                {
                    "id": "0112223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q99259-1",
            "uniprot_ac": "Q99259",
            "uniprot_id": "DCE1_HUMAN",
            "refseq_ac": "NP_000808",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "67 kDa glutamic acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "GAD-67",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 67 kDa isoform",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 (brain, 67kDa)",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 isoform GAD67",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GAD1",
                    "type": "recommended"
                },
                {
                    "name": "CPSQ1",
                    "type": "synonym"
                },
                {
                    "name": "DEE89",
                    "type": "synonym"
                },
                {
                    "name": "GAD-67",
                    "type": "synonym"
                },
                {
                    "name": "GAD1",
                    "type": "synonym"
                },
                {
                    "name": "GAD67",
                    "type": "synonym"
                },
                {
                    "name": "GAD",
                    "type": "synonym"
                },
                {
                    "name": "SCP",
                    "type": "synonym"
                }
            ],
            "record_id": "Q99259-1",
            "evidence": [
                {
                    "id": "619124",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/619124"
                },
                {
                    "id": "0112223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P18088-1",
            "uniprot_ac": "P18088",
            "uniprot_id": "DCE1_RAT",
            "refseq_ac": "NP_058703",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase 1",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "67 kDa glutamic acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "GAD-67",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 1 (brain)",
                    "type": "synonym"
                },
                {
                    "name": "Glutamate decarboxylase 67 kDa isoform",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1 variant GAD67NT",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gad1",
                    "type": "recommended"
                },
                {
                    "name": "Gad1",
                    "type": "synonym"
                },
                {
                    "name": "Gad67",
                    "type": "synonym"
                }
            ],
            "record_id": "P18088-1",
            "evidence": [
                {
                    "id": "0112223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P20228-1",
            "uniprot_ac": "P20228",
            "uniprot_id": "DCE_DROME",
            "refseq_ac": "NP_001261396",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glutamate decarboxylase",
                    "type": "recommended"
                },
                {
                    "name": "4.1.1.15",
                    "type": "synonym"
                },
                {
                    "name": "CG14994-PD",
                    "type": "synonym"
                },
                {
                    "name": "GABA synthetase",
                    "type": "synonym"
                },
                {
                    "name": "GAD",
                    "type": "synonym"
                },
                {
                    "name": "Gad1-PD",
                    "type": "synonym"
                },
                {
                    "name": "glutamate decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "glutamatic acid decarboxylase",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase 1, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase 1",
                    "type": "synonym"
                },
                {
                    "name": "glutamic acid decarboxylase-1",
                    "type": "synonym"
                },
                {
                    "name": "vesicular glutamic acid decarboxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Gad1",
                    "type": "recommended"
                },
                {
                    "name": "CG14994",
                    "type": "synonym"
                },
                {
                    "name": "DGAD1",
                    "type": "synonym"
                },
                {
                    "name": "DGad1",
                    "type": "synonym"
                },
                {
                    "name": "Dm-GDC",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG14994",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG14994",
                    "type": "synonym"
                },
                {
                    "name": "GAD-1",
                    "type": "synonym"
                },
                {
                    "name": "GAD1",
                    "type": "synonym"
                },
                {
                    "name": "GAD[[1]]",
                    "type": "synonym"
                },
                {
                    "name": "GAD",
                    "type": "synonym"
                },
                {
                    "name": "Gad1",
                    "type": "synonym"
                },
                {
                    "name": "Gad",
                    "type": "synonym"
                },
                {
                    "name": "Glb",
                    "type": "synonym"
                },
                {
                    "name": "dGad1",
                    "type": "synonym"
                },
                {
                    "name": "dgad1",
                    "type": "synonym"
                },
                {
                    "name": "gad1",
                    "type": "synonym"
                },
                {
                    "name": "gad",
                    "type": "synonym"
                },
                {
                    "name": "l(3)64An",
                    "type": "synonym"
                },
                {
                    "name": "l(3)SH10",
                    "type": "synonym"
                }
            ],
            "record_id": "P20228-1",
            "evidence": [
                {
                    "id": "0112223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O75881-1",
            "uniprot_ac": "O75881",
            "uniprot_id": "CP7B1_HUMAN",
            "refseq_ac": "NP_004811",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytochrome P450 7B1",
                    "type": "recommended"
                },
                {
                    "name": "1.14.14.26",
                    "type": "synonym"
                },
                {
                    "name": "1.14.14.29",
                    "type": "synonym"
                },
                {
                    "name": "24-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "25/26-hydroxycholesterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "3-hydroxysteroid 7-alpha hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "Oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450 7B1",
                    "type": "synonym"
                },
                {
                    "name": "cytochrome P450, subfamily VIIB (oxysterol 7 alpha-hydroxylase), polypeptide 1",
                    "type": "synonym"
                },
                {
                    "name": "oxysterol 7-alpha-hydroxylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CYP7B1",
                    "type": "recommended"
                },
                {
                    "name": "CBAS3",
                    "type": "synonym"
                },
                {
                    "name": "CP7B",
                    "type": "synonym"
                },
                {
                    "name": "CYP7B1",
                    "type": "synonym"
                },
                {
                    "name": "SPG5A",
                    "type": "synonym"
                }
            ],
            "record_id": "O75881-1",
            "evidence": [
                {
                    "id": "0112223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112223"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112223"
}