{
    "disease_id": "DOID:0112216",
    "recommended_name": {
        "id": "DOID:0112216",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112216",
        "name": "developmental and epileptic encephalopathy 80",
        "description": "A developmental and epileptic encephalopathy characterized by onset in the first year of life of refractory seizures, severe global developmental delay, and defective synthesis of glycosylphosphatidylinositol that has_material_basis_in homozygous or compound heterozygous mutation in the PIGB gene on chromosome 15q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "DEE80",
            "description": ""
        },
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "GPIBD20",
            "description": ""
        },
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "early infantile epileptic encephalopathy 80",
            "description": ""
        },
        {
            "id": "DOID:0112216",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "name": "glycosylphosphatidylinositol biosynthesis defect 20",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "developmental and epileptic encephalopathy, 80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "DEE80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "EIEE80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "developmental and epileptic encephalopathy 80",
            "description": ""
        },
        {
            "id": "MONDO:0032822",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "name": "epileptic encephalopathy, early infantile, 80",
            "description": ""
        },
        {
            "id": "MIM:618580",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618580",
            "name": "Developmental and epileptic encephalopathy 80",
            "description": "Developmental and epileptic encephalopathy 80"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112216"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112216",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112216",
            "categories": []
        },
        {
            "id": "MONDO:0032822",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032822",
            "categories": []
        },
        {
            "id": "MIM:618580",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618580",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7SXZ1-1",
            "uniprot_ac": "Q7SXZ1",
            "uniprot_id": "PIGB_DANRE",
            "refseq_ac": "NP_956770",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,2-mannosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,2-mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-III",
                    "type": "synonym"
                },
                {
                    "name": "PIG-B",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigb",
                    "type": "recommended"
                },
                {
                    "name": "pigb",
                    "type": "synonym"
                },
                {
                    "name": "zgc:63658",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7SXZ1-1",
            "evidence": [
                {
                    "id": "0112216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJQ0-1",
            "uniprot_ac": "Q9JJQ0",
            "uniprot_id": "PIGB_MOUSE",
            "refseq_ac": "NP_061377",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,2-mannosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,2-mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-III",
                    "type": "synonym"
                },
                {
                    "name": "PIG-B",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                },
                {
                    "name": "involved in GPI-anchor biosynthesis",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class B",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigb",
                    "type": "recommended"
                },
                {
                    "name": "Pig-b",
                    "type": "synonym"
                },
                {
                    "name": "Pigb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9JJQ0-1",
            "evidence": [
                {
                    "id": "0112216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92521-1",
            "uniprot_ac": "Q92521",
            "uniprot_id": "PIGB_HUMAN",
            "refseq_ac": "NP_004846",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,2-mannosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,2-mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-III",
                    "type": "synonym"
                },
                {
                    "name": "PIG-B",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man dependent GPI mannosyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man dependent GPI mannosyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class B",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGB",
                    "type": "recommended"
                },
                {
                    "name": "DEE80",
                    "type": "synonym"
                },
                {
                    "name": "EIEE80",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-III",
                    "type": "synonym"
                },
                {
                    "name": "PIG-B",
                    "type": "synonym"
                },
                {
                    "name": "PIGB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92521-1",
            "evidence": [
                {
                    "id": "618580",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618580"
                },
                {
                    "id": "0112216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P30777-1",
            "uniprot_ac": "P30777",
            "uniprot_id": "GPI10_YEAST",
            "refseq_ac": "NP_011373",
            "glycoprotein": "no",
            "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 mannosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-III",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylphosphatidylinositol-anchor biosynthesis protein 10",
                    "type": "synonym"
                },
                {
                    "name": "putative glycosylphosphatidylinositol-alpha 1,2 mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI10",
                    "type": "recommended"
                },
                {
                    "name": "GPI10",
                    "type": "synonym"
                }
            ],
            "record_id": "P30777-1",
            "evidence": [
                {
                    "id": "0112216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D3ZYY8-1",
            "uniprot_ac": "D3ZYY8",
            "uniprot_id": "D3ZYY8_RAT",
            "refseq_ac": "NP_001101636",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Mannosyltransferase",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 3",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigb",
                    "type": "recommended"
                },
                {
                    "name": "Pigb",
                    "type": "synonym"
                }
            ],
            "record_id": "D3ZYY8-1",
            "evidence": [
                {
                    "id": "0112216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112216"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VZM5-1",
            "uniprot_ac": "Q9VZM5",
            "uniprot_id": "PIGB_DROME",
            "refseq_ac": "NP_647832",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI mannosyltransferase 3",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG12006-PA",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase III",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-III",
                    "type": "synonym"
                },
                {
                    "name": "PIG-B-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class B protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class B, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-B",
                    "type": "recommended"
                },
                {
                    "name": "CG12006",
                    "type": "synonym"
                },
                {
                    "name": "DmPIG-B",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12006",
                    "type": "synonym"
                },
                {
                    "name": "PIG-B",
                    "type": "synonym"
                },
                {
                    "name": "PIGB",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VZM5-1",
            "evidence": [
                {
                    "id": "0112216",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112216"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112216"
}