{
    "disease_id": "DOID:0080139",
    "recommended_name": {
        "id": "DOID:0080139",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080139",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
        "description": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by X-linked recessive inheritance of dysmorphic features, neonatal hypotonia, myoclonic seizures and variable abnormalities involving the central nervous, cardiac, and urinary systems that has_material_basis_in mutation in the PIGA gene on chromosome Xp22."
    },
    "synonyms": [
        {
            "id": "DOID:0080139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "name": "early infantile epileptic encephalopathy 20",
            "description": ""
        },
        {
            "id": "DOID:0080139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "name": "glycosylphosphatidylinositol biosynthesis defect 4",
            "description": ""
        },
        {
            "id": "DOID:0080139",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "name": "developmental and epileptic encephalopathy 20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene."
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "DEE20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "GPIBD4",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "MCAHS type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "MCAHS2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "developmental and epileptic encephalopathy 20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "epileptic encephalopathy, early infantile, 20",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "glycosylphosphatidylinositol biosynthesis defect 4",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 2, X-linked recessive",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0010466",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA",
            "description": ""
        },
        {
            "id": "MIM:300868",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/300868",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 2",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080139"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080139",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080139",
            "categories": []
        },
        {
            "id": "MONDO:0010466",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0010466",
            "categories": []
        },
        {
            "id": "MIM:300868",
            "database": "MIM",
            "url": "https://www.omim.org/entry/300868",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "B0S6Z8-1",
            "uniprot_ac": "B0S6Z8",
            "uniprot_id": "B0S6Z8_DANRE",
            "refseq_ac": "NP_001119918",
            "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 A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class A protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "piga",
                    "type": "recommended"
                },
                {
                    "name": "im:6911675",
                    "type": "synonym"
                },
                {
                    "name": "piga",
                    "type": "synonym"
                },
                {
                    "name": "zgc:56589",
                    "type": "synonym"
                }
            ],
            "record_id": "B0S6Z8-1",
            "evidence": [
                {
                    "id": "0080139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q64323-1",
            "uniprot_ac": "Q64323",
            "uniprot_id": "PIGA_MOUSE",
            "refseq_ac": "NP_035211",
            "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 A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein",
                    "type": "synonym"
                },
                {
                    "name": "PIG-A",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class A protein",
                    "type": "synonym"
                },
                {
                    "name": "glcNAc-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class A protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositolglycan class A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Piga",
                    "type": "recommended"
                },
                {
                    "name": "Pig-a",
                    "type": "synonym"
                },
                {
                    "name": "Piga",
                    "type": "synonym"
                }
            ],
            "record_id": "Q64323-1",
            "evidence": [
                {
                    "id": "0080139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P37287-1",
            "uniprot_ac": "P37287",
            "uniprot_id": "PIGA_HUMAN",
            "refseq_ac": "NP_002632",
            "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 A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GLCNAC-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "GPI anchor biosynthesis",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "PIG-A",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class A protein",
                    "type": "synonym"
                },
                {
                    "name": "class A GlcNAc-inositol phospholipid assembly protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis, class A protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGA",
                    "type": "recommended"
                },
                {
                    "name": "GPI3",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS2",
                    "type": "synonym"
                },
                {
                    "name": "NEDEPH",
                    "type": "synonym"
                },
                {
                    "name": "PIG-A",
                    "type": "synonym"
                },
                {
                    "name": "PIGA",
                    "type": "synonym"
                },
                {
                    "name": "PNH1",
                    "type": "synonym"
                }
            ],
            "record_id": "P37287-1",
            "evidence": [
                {
                    "id": "300868",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/300868"
                },
                {
                    "id": "PIGA",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGA/#!details"
                },
                {
                    "id": "0080139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P32363-1",
            "uniprot_ac": "P32363",
            "uniprot_id": "GPI3_YEAST",
            "refseq_ac": "NP_015150",
            "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 GPI3 subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GlcNAc transferase complex subunit GPI3",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GnT subunit GPI3",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase SPT14",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SPT14",
                    "type": "recommended"
                },
                {
                    "name": "CWH6",
                    "type": "synonym"
                },
                {
                    "name": "GPI3",
                    "type": "synonym"
                },
                {
                    "name": "P2269",
                    "type": "synonym"
                },
                {
                    "name": "SPT14",
                    "type": "synonym"
                }
            ],
            "record_id": "P32363-1",
            "evidence": [
                {
                    "id": "0080139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080139"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A8I6ADP6-1",
            "uniprot_ac": "A0A8I6ADP6",
            "uniprot_id": "A0A8I6ADP6_RAT",
            "refseq_ac": "NP_001387965",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit A",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GlcNAc-PI synthesis protein",
                    "type": "synonym"
                },
                {
                    "name": "N-acetylglucosaminyl-phosphatidylinositol biosynthetic protein",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class A protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Piga",
                    "type": "recommended"
                },
                {
                    "name": "Piga",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8I6ADP6-1",
            "evidence": [
                {
                    "id": "0080139",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080139"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080139"
}