{
    "disease_id": "DOID:0070382",
    "recommended_name": {
        "id": "DOID:0070382",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070382",
        "name": "developmental and epileptic encephalopathy 95",
        "description": "A developmental and epileptic encephalopathy characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures that has_material_basis_in homozygous or compound heterozygous mutation in the PIGS gene on chromosome 17q11."
    },
    "synonyms": [
        {
            "id": "DOID:0070382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070382",
            "name": "DEE95",
            "description": ""
        },
        {
            "id": "DOID:0070382",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070382",
            "name": "early infantile epileptic encephalopathy 95",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "glycosylphosphatidylinositol biosynthesis defect 18",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "developmental and epileptic encephalopathy 95",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "glycosylphosphatidylinositol biosynthesis defect 18",
            "description": ""
        },
        {
            "id": "MONDO:0029140",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "name": "GPIBD18",
            "description": ""
        },
        {
            "id": "MIM:618143",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618143",
            "name": "Glycosylphosphatidylinositol biosynthesis defect 18",
            "description": "Glycosylphosphatidylinositol biosynthesis defect 18"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070382"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070382",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070382",
            "categories": []
        },
        {
            "id": "MONDO:0029140",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0029140",
            "categories": []
        },
        {
            "id": "MIM:618143",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618143",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q6PD26-1",
            "uniprot_ac": "Q6PD26",
            "uniprot_id": "PIGS_MOUSE",
            "refseq_ac": "NP_958808",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-anchor transamidase component PIGS",
                    "type": "recommended"
                },
                {
                    "name": "GPI transamidase component PIG-S",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGS isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGS",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class S protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class S homolog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class S protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigs",
                    "type": "recommended"
                },
                {
                    "name": "Gm393",
                    "type": "synonym"
                },
                {
                    "name": "Gm689",
                    "type": "synonym"
                },
                {
                    "name": "Pigs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6PD26-1",
            "evidence": [
                {
                    "id": "0070382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96S52-1",
            "uniprot_ac": "Q96S52",
            "uniprot_id": "PIGS_HUMAN",
            "refseq_ac": "NP_149975",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-anchor transamidase component PIGS",
                    "type": "recommended"
                },
                {
                    "name": "GPI transamidase component PIG-S",
                    "type": "synonym"
                },
                {
                    "name": "GPI transamidase subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGS",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class S protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class S",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class S protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGS",
                    "type": "recommended"
                },
                {
                    "name": "DEE95",
                    "type": "synonym"
                },
                {
                    "name": "GPIBD18",
                    "type": "synonym"
                },
                {
                    "name": "PIG-S",
                    "type": "synonym"
                },
                {
                    "name": "PIGS",
                    "type": "synonym"
                },
                {
                    "name": "PRO4316",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96S52-1",
            "evidence": [
                {
                    "id": "618143",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618143"
                },
                {
                    "id": "PIGS",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGS/#!details"
                },
                {
                    "id": "0070382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q04080-1",
            "uniprot_ac": "Q04080",
            "uniprot_id": "GPI17_YEAST",
            "refseq_ac": "NP_010722",
            "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": "GPI transamidase component GPI17",
                    "type": "recommended"
                },
                {
                    "name": "GPI-anchor transamidase GPI17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI17",
                    "type": "recommended"
                },
                {
                    "name": "D9461.20",
                    "type": "synonym"
                },
                {
                    "name": "GPI17",
                    "type": "synonym"
                }
            ],
            "record_id": "Q04080-1",
            "evidence": [
                {
                    "id": "0070382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5XI31-1",
            "uniprot_ac": "Q5XI31",
            "uniprot_id": "PIGS_RAT",
            "refseq_ac": "NP_001006602",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-anchor transamidase component PIGS",
                    "type": "recommended"
                },
                {
                    "name": "GPI transamidase component PIG-S",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase component PIGS",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class S protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class S",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class S protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigs",
                    "type": "recommended"
                },
                {
                    "name": "Pigs",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5XI31-1",
            "evidence": [
                {
                    "id": "0070382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070382"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VC10-1",
            "uniprot_ac": "Q9VC10",
            "uniprot_id": "Q9VC10_DROME",
            "refseq_ac": "NP_733060",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG44255-PC",
                    "type": "synonym"
                },
                {
                    "name": "PIG-S-PC",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis class S",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class S",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis, class S ortholog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis, class S",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-S",
                    "type": "recommended"
                },
                {
                    "name": "CG13644",
                    "type": "synonym"
                },
                {
                    "name": "CG31120",
                    "type": "synonym"
                },
                {
                    "name": "CG44255",
                    "type": "synonym"
                },
                {
                    "name": "CG6031",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44255",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG44255",
                    "type": "synonym"
                },
                {
                    "name": "PIG-S",
                    "type": "synonym"
                },
                {
                    "name": "PIGS",
                    "type": "synonym"
                },
                {
                    "name": "sud2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VC10-1",
            "evidence": [
                {
                    "id": "0070382",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070382"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070382"
}