{
    "disease_id": "DOID:0081223",
    "recommended_name": {
        "id": "DOID:0081223",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0081223",
        "name": "glycosylphosphatidylinositol biosynthesis defect 16",
        "description": "An autosomal recessive intellectual developmental disorder that has_material_basis_in homozygous or compound heterozygous mutation in the PIGC gene on chromosome 1q23."
    },
    "synonyms": [
        {
            "id": "DOID:0081223",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081223",
            "name": "Intellectual developmental disorder, autosomal recessive 62",
            "description": ""
        },
        {
            "id": "MONDO:0040500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040500",
            "name": "glycosylphosphatidylinositol biosynthesis defect 16",
            "description": ""
        },
        {
            "id": "MONDO:0040500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040500",
            "name": "glycosylphosphatidylinositol biosynthesis defect 16",
            "description": ""
        },
        {
            "id": "MONDO:0040500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040500",
            "name": "GPIBD16",
            "description": ""
        },
        {
            "id": "MONDO:0040500",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040500",
            "name": "mental retardation, autosomal recessive 62",
            "description": ""
        },
        {
            "id": "MIM:617816",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/617816",
            "name": "Glycosylphosphatidylinositol biosynthesis defect 16",
            "description": "Glycosylphosphatidylinositol biosynthesis defect 16"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0081223"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0081223",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0081223",
            "categories": []
        },
        {
            "id": "MONDO:0040500",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0040500",
            "categories": []
        },
        {
            "id": "MIM:617816",
            "database": "MIM",
            "url": "https://www.omim.org/entry/617816",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9CXR4-1",
            "uniprot_ac": "Q9CXR4",
            "uniprot_id": "PIGC_MOUSE",
            "refseq_ac": "NP_001034134",
            "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 C",
                    "type": "recommended"
                },
                {
                    "name": "PIG-C",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class C protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit C",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigc",
                    "type": "recommended"
                },
                {
                    "name": "3110030E07Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pigc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9CXR4-1",
            "evidence": [
                {
                    "id": "0081223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q92535-1",
            "uniprot_ac": "Q92535",
            "uniprot_id": "PIGC_HUMAN",
            "refseq_ac": "NP_002633",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol N-acetylglucosaminyltransferase subunit C",
                    "type": "recommended"
                },
                {
                    "name": "PIG-C",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class C protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit C",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis, class C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGC",
                    "type": "recommended"
                },
                {
                    "name": "GPI2",
                    "type": "synonym"
                },
                {
                    "name": "GPIBD16",
                    "type": "synonym"
                },
                {
                    "name": "MRT62",
                    "type": "synonym"
                },
                {
                    "name": "PIGC",
                    "type": "synonym"
                }
            ],
            "record_id": "Q92535-1",
            "evidence": [
                {
                    "id": "0040500",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0040500"
                },
                {
                    "id": "617816",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/617816"
                },
                {
                    "id": "0081223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P46961-1",
            "uniprot_ac": "P46961",
            "uniprot_id": "GPI2_YEAST",
            "refseq_ac": "NP_015249",
            "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 GPI2 subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.198",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GlcNAc transferase complex subunit GPI2",
                    "type": "synonym"
                },
                {
                    "name": "GPI-GnT subunit GPI2",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI2",
                    "type": "recommended"
                },
                {
                    "name": "GCR4",
                    "type": "synonym"
                },
                {
                    "name": "GPI2",
                    "type": "synonym"
                },
                {
                    "name": "LPF9W",
                    "type": "synonym"
                }
            ],
            "record_id": "P46961-1",
            "evidence": [
                {
                    "id": "0081223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5PQQ4-1",
            "uniprot_ac": "Q5PQQ4",
            "uniprot_id": "PIGC_RAT",
            "refseq_ac": "NP_001012207",
            "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 C",
                    "type": "recommended"
                },
                {
                    "name": "PIG-C",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class C protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit C",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class C",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class C protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigc",
                    "type": "recommended"
                },
                {
                    "name": "Pigc",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5PQQ4-1",
            "evidence": [
                {
                    "id": "0081223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081223"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2U8U156-1",
            "uniprot_ac": "A0A2U8U156",
            "uniprot_id": "A0A2U8U156_DROME",
            "refseq_ac": "NP_001350858",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG12077-PC",
                    "type": "synonym"
                },
                {
                    "name": "PIG-C-PC",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis class C, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class C, isoform C",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis, class C ortholog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-C",
                    "type": "recommended"
                },
                {
                    "name": "CG12077",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12077",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12077",
                    "type": "synonym"
                },
                {
                    "name": "PIG-C",
                    "type": "synonym"
                },
                {
                    "name": "PIGC",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2U8U156-1",
            "evidence": [
                {
                    "id": "0081223",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0081223"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0081223"
}