{
    "disease_id": "DOID:0112213",
    "recommended_name": {
        "id": "DOID:0112213",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0112213",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 4",
        "description": "A multiple congenital anomalies-hypotonia-seizures syndrome characterized by onset in the first months of life of refractory seizures and severe global developmental delay that has_material_basis_in homozygous or compound heterozygous mutation in the PIGQ gene on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "DEE77",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "GPIBD19",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "MCAHS4",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "developmental and epileptic encephalopathy 77",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "early infantile epileptic encephalopathy 77",
            "description": ""
        },
        {
            "id": "DOID:0112213",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "name": "glycosylphosphatidylinositol biosynthesis defect 19",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "developmental and epileptic encephalopathy, 77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "DEE77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "EIEE77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "epileptic encephalopathy, early infantile, 77",
            "description": ""
        },
        {
            "id": "MONDO:0032808",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 4",
            "description": ""
        },
        {
            "id": "MIM:618548",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/618548",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 4",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 4"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0112213"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0112213",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0112213",
            "categories": []
        },
        {
            "id": "MONDO:0032808",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0032808",
            "categories": []
        },
        {
            "id": "MIM:618548",
            "database": "MIM",
            "url": "https://www.omim.org/entry/618548",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QHT3-1",
            "uniprot_ac": "F1QHT3",
            "uniprot_id": "F1QHT3_DANRE",
            "refseq_ac": "XP_005163963",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigq",
                    "type": "recommended"
                },
                {
                    "name": "cb359",
                    "type": "synonym"
                },
                {
                    "name": "pigq",
                    "type": "synonym"
                },
                {
                    "name": "sb:cb359",
                    "type": "synonym"
                },
                {
                    "name": "wu:fa03b07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:64027",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QHT3-1",
            "evidence": [
                {
                    "id": "0112213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9QYT7-1",
            "uniprot_ac": "Q9QYT7",
            "uniprot_id": "PIGQ_MOUSE",
            "refseq_ac": "NP_035952",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q",
                    "type": "recommended"
                },
                {
                    "name": "MGpi1p",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamyl transferase component GPI1",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Q",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class Q protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class Q protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigq",
                    "type": "recommended"
                },
                {
                    "name": "Gpi1h",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1p",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "type": "synonym"
                },
                {
                    "name": "Gpih",
                    "type": "synonym"
                },
                {
                    "name": "Mgpi1",
                    "type": "synonym"
                },
                {
                    "name": "Pigq",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9QYT7-1",
            "evidence": [
                {
                    "id": "0112213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9BRB3-1",
            "uniprot_ac": "Q9BRB3",
            "uniprot_id": "PIGQ_HUMAN",
            "refseq_ac": "NP_004195",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit Q",
                    "type": "recommended"
                },
                {
                    "name": "N-acetylglucosaminyl transferase component Gpi1",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosamyl transferase component GPI1",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Q",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class Q protein",
                    "type": "synonym"
                },
                {
                    "name": "c407A10.1 (GPI1 (N-acetylglucosaminyl transferase component))",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class Q",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class Q protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGQ",
                    "type": "recommended"
                },
                {
                    "name": "DEE77",
                    "type": "synonym"
                },
                {
                    "name": "EIEE77",
                    "type": "synonym"
                },
                {
                    "name": "GPI1",
                    "type": "synonym"
                },
                {
                    "name": "GPIBD19",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS4",
                    "type": "synonym"
                },
                {
                    "name": "PIGQ",
                    "type": "synonym"
                },
                {
                    "name": "c407A10.1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9BRB3-1",
            "evidence": [
                {
                    "id": "618548",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/618548"
                },
                {
                    "id": "0112213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53306-1",
            "uniprot_ac": "P53306",
            "uniprot_id": "GPI1_YEAST",
            "refseq_ac": "NP_011732",
            "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": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit GPI1",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GlcNAc transferase complex subunit GPI1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GnT subunit GPI1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI1",
                    "type": "recommended"
                },
                {
                    "name": "GPI1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53306-1",
            "evidence": [
                {
                    "id": "0112213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q642B8-1",
            "uniprot_ac": "Q642B8",
            "uniprot_id": "Q642B8_RAT",
            "refseq_ac": "NP_001007608",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis, class Q",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Q",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class Q",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigq",
                    "type": "recommended"
                },
                {
                    "name": "Pigq",
                    "type": "synonym"
                }
            ],
            "record_id": "Q642B8-1",
            "evidence": [
                {
                    "id": "0112213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112213"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8IR17-1",
            "uniprot_ac": "Q8IR17",
            "uniprot_id": "Q8IR17_DROME",
            "refseq_ac": "NP_001285323",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG32578-PC",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Q-PC",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis class Q, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis class Q, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "lethal (1) 14Ca",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class Q, isoform C",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-Q",
                    "type": "recommended"
                },
                {
                    "name": "216-441",
                    "type": "synonym"
                },
                {
                    "name": "CG32578",
                    "type": "synonym"
                },
                {
                    "name": "Dm_CAC10056/216-441",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG32578",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG32578",
                    "type": "synonym"
                },
                {
                    "name": "Gpi1",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Q",
                    "type": "synonym"
                },
                {
                    "name": "dGpi1",
                    "type": "synonym"
                },
                {
                    "name": "i19e",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Ca",
                    "type": "synonym"
                },
                {
                    "name": "l(1)14Cd",
                    "type": "synonym"
                },
                {
                    "name": "l(1)19-134",
                    "type": "synonym"
                },
                {
                    "name": "l(1)i19e",
                    "type": "synonym"
                },
                {
                    "name": "l(1)i19",
                    "type": "synonym"
                },
                {
                    "name": "pig-q",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8IR17-1",
            "evidence": [
                {
                    "id": "0112213",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0112213"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0112213"
}