{
    "disease_id": "DOID:0080138",
    "recommended_name": {
        "id": "DOID:0080138",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080138",
        "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
        "description": "A multiple congenital anomalies-hypotonia-seizures syndrome that is characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems and has_material_basis_in homozygous mutation in the PIGN gene on chromosome 18q21."
    },
    "synonyms": [
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "description": "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene."
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "PIGN-CDG",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "congenital disorder of glycosylation due to PIGN deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "inherited GPI anchor-deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies-hypotonia-seizures syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "PIGN-related inherited GPI deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "MCAHS1",
            "description": ""
        },
        {
            "id": "MONDO:0013563",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "name": "multiple congenital anomalies - hypotonia - seizures syndrome",
            "description": ""
        },
        {
            "id": "MIM:614080",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614080",
            "name": "Multiple congenital anomalies-hypotonia-seizures syndrome 1",
            "description": "Multiple congenital anomalies-hypotonia-seizures syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080138"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080138",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080138",
            "categories": []
        },
        {
            "id": "MONDO:0013563",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013563",
            "categories": []
        },
        {
            "id": "MIM:614080",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614080",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "O95427-1",
            "uniprot_ac": "O95427",
            "uniprot_id": "PIGN_HUMAN",
            "refseq_ac": "NP_036459",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "synonym"
                },
                {
                    "name": "GPI-ETI",
                    "type": "synonym"
                },
                {
                    "name": "GPI-ethanolamine transferase I",
                    "type": "synonym"
                },
                {
                    "name": "MCD4 homolog",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class N protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class N protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGN",
                    "type": "recommended"
                },
                {
                    "name": "GPI-ETI",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS1",
                    "type": "synonym"
                },
                {
                    "name": "MCAHS",
                    "type": "synonym"
                },
                {
                    "name": "MCD4",
                    "type": "synonym"
                },
                {
                    "name": "MDC4",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N",
                    "type": "synonym"
                },
                {
                    "name": "PIGN",
                    "type": "synonym"
                }
            ],
            "record_id": "O95427-1",
            "evidence": [
                {
                    "id": "23556",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/23556#disease"
                },
                {
                    "id": "0013563",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013563"
                },
                {
                    "id": "614080",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614080"
                },
                {
                    "id": "PIGN",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGN/#!details"
                },
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E7EXW2-1",
            "uniprot_ac": "E7EXW2",
            "uniprot_id": "E7EXW2_DANRE",
            "refseq_ac": "NP_001297009",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pign",
                    "type": "recommended"
                },
                {
                    "name": "pign",
                    "type": "synonym"
                },
                {
                    "name": "zgc:172324",
                    "type": "synonym"
                }
            ],
            "record_id": "E7EXW2-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9R1S3-1",
            "uniprot_ac": "Q9R1S3",
            "uniprot_id": "PIGN_MOUSE",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class N protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pign",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9R1S3-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36051-1",
            "uniprot_ac": "P36051",
            "uniprot_id": "MCD4_YEAST",
            "refseq_ac": "NP_012756",
            "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 ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Morphogenesis checkpoint-dependent protein 4",
                    "type": "synonym"
                },
                {
                    "name": "Supersecretion of u-PA protein 21",
                    "type": "synonym"
                },
                {
                    "name": "mannose-ethanolamine phosphotransferase MCD4",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCD4",
                    "type": "recommended"
                },
                {
                    "name": "FSR2",
                    "type": "synonym"
                },
                {
                    "name": "MCD4",
                    "type": "synonym"
                },
                {
                    "name": "SSU21",
                    "type": "synonym"
                },
                {
                    "name": "YKL619",
                    "type": "synonym"
                },
                {
                    "name": "ZRG16",
                    "type": "synonym"
                }
            ],
            "record_id": "P36051-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LNZ1-1",
            "uniprot_ac": "A0ABK0LNZ1",
            "uniprot_id": "A0ABK0LNZ1_RAT",
            "refseq_ac": "XP_038946775",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 1 isoform X2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pign",
                    "type": "recommended"
                },
                {
                    "name": "Pign",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LNZ1-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VB32-1",
            "uniprot_ac": "Q9VB32",
            "uniprot_id": "Q9VB32_DROME",
            "refseq_ac": "NP_651562",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG13978-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG13978",
                    "type": "recommended"
                },
                {
                    "name": "CG13978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG13978",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG13978",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VB32-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1Z838-1",
            "uniprot_ac": "A1Z838",
            "uniprot_id": "A1Z838_DROME",
            "refseq_ac": "NP_610549",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG2292-PA",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N-PA",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class N",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-N",
                    "type": "recommended"
                },
                {
                    "name": "CG2292",
                    "type": "synonym"
                },
                {
                    "name": "DmPIG-N",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG2292",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG2292",
                    "type": "synonym"
                },
                {
                    "name": "PIG-N",
                    "type": "synonym"
                },
                {
                    "name": "PIGN",
                    "type": "synonym"
                }
            ],
            "record_id": "A1Z838-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGM0-1",
            "uniprot_ac": "Q9VGM0",
            "uniprot_id": "Q9VGM0_DROME",
            "refseq_ac": "NP_650087",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG6790-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "anon-WO0140519.186",
                    "type": "recommended"
                },
                {
                    "name": "CG6790",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG6790",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG6790",
                    "type": "synonym"
                },
                {
                    "name": "NEST:bs22e02",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.186",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGM0-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VGL9-1",
            "uniprot_ac": "Q9VGL9",
            "uniprot_id": "Q9VGL9_DROME",
            "refseq_ac": "NP_650088",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG5342-PB",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG5342",
                    "type": "recommended"
                },
                {
                    "name": "CG5342",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG5342",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG5342",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VGL9-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VCV7-1",
            "uniprot_ac": "Q9VCV7",
            "uniprot_id": "Q9VCV7_DROME",
            "refseq_ac": "NP_651086",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 1",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG4907-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG4907",
                    "type": "recommended"
                },
                {
                    "name": "CG4907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG4907",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG4907",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VCV7-1",
            "evidence": [
                {
                    "id": "0080138",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080138"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080138"
}