{
    "disease_id": "DOID:0070434",
    "recommended_name": {
        "id": "DOID:0070434",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070434",
        "name": "hyperphosphatasia with impaired intellectual development syndrome 2",
        "description": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in compound heterozygous mutation in the PIGO gene on chromosome 9p13."
    },
    "synonyms": [
        {
            "id": "DOID:0070434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070434",
            "name": "hyperphosphatasia with mental retardation syndrome 2",
            "description": ""
        },
        {
            "id": "DOID:0070434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070434",
            "name": "GPIBD6",
            "description": ""
        },
        {
            "id": "DOID:0070434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070434",
            "name": "HPMRS2",
            "description": ""
        },
        {
            "id": "DOID:0070434",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070434",
            "name": "glycosylphosphatidylinositol biosynthesis defect 6",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "hyperphosphatasia with intellectual disability syndrome 2",
            "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGO gene."
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "PIGO hyperphosphatasia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "hyperphosphatasia with intellectual disability syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "hyperphosphatasia with intellectual disability syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "hyperphosphatasia with mental retardation syndrome 2",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "hyperphosphatasia with mental retardation syndrome type 2",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO",
            "description": ""
        },
        {
            "id": "MONDO:0013882",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "name": "HPMRS2",
            "description": ""
        },
        {
            "id": "MIM:614749",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614749",
            "name": "Hyperphosphatasia with impaired intellectual development syndrome 2",
            "description": "Hyperphosphatasia with impaired intellectual development syndrome 2"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070434"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070434",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070434",
            "categories": []
        },
        {
            "id": "MONDO:0013882",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013882",
            "categories": []
        },
        {
            "id": "MIM:614749",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614749",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "E9QI13-1",
            "uniprot_ac": "E9QI13",
            "uniprot_id": "E9QI13_DANRE",
            "refseq_ac": "XP_692445",
            "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 3, catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 3 isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class O protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigo",
                    "type": "recommended"
                },
                {
                    "name": "pigo",
                    "type": "synonym"
                }
            ],
            "record_id": "E9QI13-1",
            "evidence": [
                {
                    "id": "0070434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9JJI6-1",
            "uniprot_ac": "Q9JJI6",
            "uniprot_id": "PIGO_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 3, catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "PIG-O",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class O protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigo",
                    "type": "recommended"
                }
            ],
            "record_id": "Q9JJI6-1",
            "evidence": [
                {
                    "id": "0070434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8TEQ8-1",
            "uniprot_ac": "Q8TEQ8",
            "uniprot_id": "PIGO_HUMAN",
            "refseq_ac": "NP_001188413",
            "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 3, catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 3, catalytic subunit isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 3, catalytic subunit",
                    "type": "synonym"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 3",
                    "type": "synonym"
                },
                {
                    "name": "PIG-O",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class O protein",
                    "type": "synonym"
                },
                {
                    "name": "hGPCR43",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class O protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGO",
                    "type": "recommended"
                },
                {
                    "name": "HPMRS2",
                    "type": "synonym"
                },
                {
                    "name": "PIGO",
                    "type": "synonym"
                },
                {
                    "name": "PRO1249",
                    "type": "synonym"
                },
                {
                    "name": "hGPCR43",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8TEQ8-1",
            "evidence": [
                {
                    "id": "0013882",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013882"
                },
                {
                    "id": "614749",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614749"
                },
                {
                    "id": "PIGO",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGO/#!details"
                },
                {
                    "id": "0070434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q07830-1",
            "uniprot_ac": "Q07830",
            "uniprot_id": "GPI13_YEAST",
            "refseq_ac": "NP_013069",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "2.-.-.-",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylphosphatidylinositol-anchor biosynthesis protein 13",
                    "type": "synonym"
                },
                {
                    "name": "mannose-ethanolamine phosphotransferase GPI13",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI13",
                    "type": "recommended"
                },
                {
                    "name": "GPI13",
                    "type": "synonym"
                },
                {
                    "name": "MPC1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q07830-1",
            "evidence": [
                {
                    "id": "0070434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0LN10-1",
            "uniprot_ac": "A0ABK0LN10",
            "uniprot_id": "A0ABK0LN10_RAT",
            "refseq_ac": "XP_233141",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI ethanolamine phosphate transferase 3, catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "GPI ethanolamine phosphate transferase 3 isoform X2",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class O protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigo",
                    "type": "recommended"
                },
                {
                    "name": "Pigo",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0LN10-1",
            "evidence": [
                {
                    "id": "0070434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070434"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A1ZB84-1",
            "uniprot_ac": "A1ZB84",
            "uniprot_id": "A1ZB84_DROME",
            "refseq_ac": "NP_611332",
            "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 3, catalytic subunit",
                    "type": "recommended"
                },
                {
                    "name": "CG12263-PA",
                    "type": "synonym"
                },
                {
                    "name": "PIG-O-PA",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class O protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class O",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-O",
                    "type": "recommended"
                },
                {
                    "name": "CG12263",
                    "type": "synonym"
                },
                {
                    "name": "DmPIG-O",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG12263",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG12263",
                    "type": "synonym"
                },
                {
                    "name": "PIG-O",
                    "type": "synonym"
                },
                {
                    "name": "PIGO",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.205",
                    "type": "synonym"
                }
            ],
            "record_id": "A1ZB84-1",
            "evidence": [
                {
                    "id": "0070434",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070434"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070434"
}