{
    "disease_id": "DOID:0080419",
    "recommended_name": {
        "id": "DOID:0080419",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080419",
        "name": "developmental and epileptic encephalopathy 50",
        "description": "A developmental and epileptic encephalopathy characterized by delayed psychomotor development, early-onset seizures, severe developmental regression, and normocytic anemia that has_material_basis_in homozygous or compound heterozygous mutation in the CAD gene on chromosome 2p23."
    },
    "synonyms": [
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "name": "CDG syndrome type Iz",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "name": "CDG-Iz",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "name": "Congenital disorder of glycosylation type 1z",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "name": "Carbohydrate deficient glycoprotein syndrome type Iz",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "name": "DEE50",
            "description": ""
        },
        {
            "id": "DOID:0080419",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "name": "early infantile epileptic encephalopathy 50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "developmental and epileptic encephalopathy, 50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CAD-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CDG syndrome type Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CDG-Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "CDG1Z",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "DEE50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "EIEE50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "carbohydrate deficient glycoprotein syndrome type Iz",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "congenital disorder of glycosylation type 1z",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "developmental and epileptic encephalopathy 50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "epileptic encephalopathy, early infantile, 50",
            "description": ""
        },
        {
            "id": "MONDO:0014647",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "name": "congenital disorder of glycosylation, type Iz",
            "description": ""
        },
        {
            "id": "MIM:616457",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616457",
            "name": "Developmental and epileptic encephalopathy 50",
            "description": "Developmental and epileptic encephalopathy 50"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080419"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080419",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080419",
            "categories": []
        },
        {
            "id": "MONDO:0014647",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014647",
            "categories": []
        },
        {
            "id": "MIM:616457",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616457",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M3AL15-1",
            "uniprot_ac": "A0A8M3AL15",
            "uniprot_id": "A0A8M3AL15_DANRE",
            "refseq_ac": "XP_009293160",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional protein CAD",
                    "type": "recommended"
                },
                {
                    "name": "2.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "3.5.2.3",
                    "type": "synonym"
                },
                {
                    "name": "6.3.4.16",
                    "type": "synonym"
                },
                {
                    "name": "6.3.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein CAD isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "cad",
                    "type": "recommended"
                },
                {
                    "name": "cad",
                    "type": "synonym"
                },
                {
                    "name": "cb456",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-221h15.3",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc30c12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc33d01",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc67g02",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M3AL15-1",
            "evidence": [
                {
                    "id": "0080419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "B2RQC6-1",
            "uniprot_ac": "B2RQC6",
            "uniprot_id": "PYR1_MOUSE",
            "refseq_ac": "NP_001276451",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional protein CAD",
                    "type": "recommended"
                },
                {
                    "name": "Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein CAD isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein CAD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad",
                    "type": "recommended"
                },
                {
                    "name": "2410008J01Rik",
                    "type": "synonym"
                },
                {
                    "name": "Cad",
                    "type": "synonym"
                },
                {
                    "name": "Cpad",
                    "type": "synonym"
                }
            ],
            "record_id": "B2RQC6-1",
            "evidence": [
                {
                    "id": "0080419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27708-1",
            "uniprot_ac": "P27708",
            "uniprot_id": "PYR1_HUMAN",
            "refseq_ac": "NP_001293008",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional protein CAD",
                    "type": "recommended"
                },
                {
                    "name": "CAD trifunctional protein",
                    "type": "synonym"
                },
                {
                    "name": "Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase",
                    "type": "synonym"
                },
                {
                    "name": "carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein CAD isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein CAD",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CAD",
                    "type": "recommended"
                },
                {
                    "name": "CAD",
                    "type": "synonym"
                },
                {
                    "name": "CDG1Z",
                    "type": "synonym"
                },
                {
                    "name": "DEE50",
                    "type": "synonym"
                },
                {
                    "name": "EIEE50",
                    "type": "synonym"
                },
                {
                    "name": "GATD4",
                    "type": "synonym"
                }
            ],
            "record_id": "P27708-1",
            "evidence": [
                {
                    "id": "0014647",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014647"
                },
                {
                    "id": "616457",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616457"
                },
                {
                    "id": "0080419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P07259-1",
            "uniprot_ac": "P07259",
            "uniprot_id": "PYR1_YEAST",
            "refseq_ac": "NP_012405",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional protein URA2",
                    "type": "recommended"
                },
                {
                    "name": "Aspartate transcarbamylase",
                    "type": "synonym"
                },
                {
                    "name": "CPS-P",
                    "type": "synonym"
                },
                {
                    "name": "CPSase P",
                    "type": "synonym"
                },
                {
                    "name": "CPSase-ATCase",
                    "type": "synonym"
                },
                {
                    "name": "CPSase-ura",
                    "type": "synonym"
                },
                {
                    "name": "Carbamoyl phosphate synthase P",
                    "type": "synonym"
                },
                {
                    "name": "Pyrimidine-specific carbamoyl phosphate synthase-aspartate carbamoyl transferase",
                    "type": "synonym"
                },
                {
                    "name": "Pyrimidine-specific carbamoyl phosphate synthase",
                    "type": "synonym"
                },
                {
                    "name": "bifunctional carbamoylphosphate synthetase/aspartate transcarbamylase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "URA2",
                    "type": "recommended"
                },
                {
                    "name": "J0686",
                    "type": "synonym"
                },
                {
                    "name": "URA2",
                    "type": "synonym"
                }
            ],
            "record_id": "P07259-1",
            "evidence": [
                {
                    "id": "0080419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I5ZMM2-1",
            "uniprot_ac": "A0A8I5ZMM2",
            "uniprot_id": "A0A8I5ZMM2_RAT",
            "refseq_ac": "XP_063117612",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional protein CAD",
                    "type": "recommended"
                },
                {
                    "name": "2.1.3.2",
                    "type": "synonym"
                },
                {
                    "name": "3.5.1.2",
                    "type": "synonym"
                },
                {
                    "name": "3.5.2.3",
                    "type": "synonym"
                },
                {
                    "name": "6.3.4.16",
                    "type": "synonym"
                },
                {
                    "name": "6.3.5.5",
                    "type": "synonym"
                },
                {
                    "name": "Carbamoyl phosphate synthetase 2-aspartate transcarbamylase-dihydroorotase",
                    "type": "synonym"
                },
                {
                    "name": "multifunctional protein CAD isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Cad",
                    "type": "recommended"
                },
                {
                    "name": "Cad",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I5ZMM2-1",
            "evidence": [
                {
                    "id": "0080419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080419"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P05990-1",
            "uniprot_ac": "P05990",
            "uniprot_id": "PYR1_DROME",
            "refseq_ac": "NP_001285343",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Multifunctional protein r",
                    "type": "recommended"
                },
                {
                    "name": "CG18572-PD",
                    "type": "synonym"
                },
                {
                    "name": "Protein rudimentary",
                    "type": "synonym"
                },
                {
                    "name": "Suppressor-of-black",
                    "type": "synonym"
                },
                {
                    "name": "carbamoylphosphate synthetase",
                    "type": "synonym"
                },
                {
                    "name": "r-PD",
                    "type": "synonym"
                },
                {
                    "name": "rudimentary gene",
                    "type": "synonym"
                },
                {
                    "name": "rudimentary, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "suppressor of black",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "r",
                    "type": "recommended"
                },
                {
                    "name": "ACT",
                    "type": "synonym"
                },
                {
                    "name": "CAD",
                    "type": "synonym"
                },
                {
                    "name": "CG18572",
                    "type": "synonym"
                },
                {
                    "name": "CG4601",
                    "type": "synonym"
                },
                {
                    "name": "CPS",
                    "type": "synonym"
                },
                {
                    "name": "DHO",
                    "type": "synonym"
                },
                {
                    "name": "DRORUD",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18572",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18572",
                    "type": "synonym"
                },
                {
                    "name": "GAT",
                    "type": "synonym"
                },
                {
                    "name": "PYR1",
                    "type": "synonym"
                },
                {
                    "name": "R",
                    "type": "synonym"
                },
                {
                    "name": "Su(b)",
                    "type": "synonym"
                },
                {
                    "name": "csp2",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)829",
                    "type": "synonym"
                },
                {
                    "name": "fs(1)M34",
                    "type": "synonym"
                },
                {
                    "name": "l(1)Ab",
                    "type": "synonym"
                },
                {
                    "name": "r",
                    "type": "synonym"
                }
            ],
            "record_id": "P05990-1",
            "evidence": [
                {
                    "id": "0080419",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080419"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080419"
}