{
    "disease_id": "DOID:0070432",
    "recommended_name": {
        "id": "DOID:0070432",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070432",
        "name": "hyperphosphatasia with impaired intellectual development syndrome 5",
        "description": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGW gene on chromosome 17q12."
    },
    "synonyms": [
        {
            "id": "DOID:0070432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070432",
            "name": "GPIBD11",
            "description": ""
        },
        {
            "id": "DOID:0070432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070432",
            "name": "HPMRS5",
            "description": ""
        },
        {
            "id": "DOID:0070432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070432",
            "name": "hyperphosphatasia with mental retardation syndrome 5",
            "description": ""
        },
        {
            "id": "DOID:0070432",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070432",
            "name": "glycosylphosphatidylinositol biosynthesis defect 11",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "hyperphosphatasia with intellectual disability syndrome 5",
            "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGW gene."
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "PIGW hyperphosphatasia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "hyperphosphatasia with intellectual disability syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "hyperphosphatasia with intellectual disability syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "hyperphosphatasia with mental retardation syndrome 5",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "hyperphosphatasia with mental retardation syndrome type 5",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "GPIBD11",
            "description": ""
        },
        {
            "id": "MONDO:0014457",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "name": "HPMRS5",
            "description": ""
        },
        {
            "id": "MIM:616025",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616025",
            "name": "Glycosylphosphatidylinositol biosynthesis defect 11",
            "description": "Glycosylphosphatidylinositol biosynthesis defect 11"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070432"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070432",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070432",
            "categories": []
        },
        {
            "id": "MONDO:0014457",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014457",
            "categories": []
        },
        {
            "id": "MIM:616025",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616025",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F1QAR3-1",
            "uniprot_ac": "F1QAR3",
            "uniprot_id": "F1QAR3_DANRE",
            "refseq_ac": "NP_001108044",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigw",
                    "type": "recommended"
                },
                {
                    "name": "pigw",
                    "type": "synonym"
                },
                {
                    "name": "zgc:175274",
                    "type": "synonym"
                }
            ],
            "record_id": "F1QAR3-1",
            "evidence": [
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8C398-1",
            "uniprot_ac": "Q8C398",
            "uniprot_id": "PIGW_MOUSE",
            "refseq_ac": "NP_001071104",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosaminyl-phosphatidylinositol-acyltransferase PIGW",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GlcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                },
                {
                    "name": "glcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl-phosphatidylinositol- acyltransferase PIGW",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class W",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigw",
                    "type": "recommended"
                },
                {
                    "name": "2610044A17Rik",
                    "type": "synonym"
                },
                {
                    "name": "Gwt1",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "Pigw",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C398-1",
            "evidence": [
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7Z7B1-1",
            "uniprot_ac": "Q7Z7B1",
            "uniprot_id": "PIGW_HUMAN",
            "refseq_ac": "NP_001333683",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosaminyl-phosphatidylinositol-acyltransferase PIGW",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchored wall protein transfer 1 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GlcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                },
                {
                    "name": "glcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl-phosphatidylinositol- acyltransferase PIGW",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGW",
                    "type": "recommended"
                },
                {
                    "name": "Gwt1",
                    "type": "synonym"
                },
                {
                    "name": "HPMRS5",
                    "type": "synonym"
                },
                {
                    "name": "PIGW",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7Z7B1-1",
            "evidence": [
                {
                    "id": "0014457",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014457"
                },
                {
                    "id": "616025",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616025"
                },
                {
                    "id": "PIGW",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGW/#!details"
                },
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P47026-1",
            "uniprot_ac": "P47026",
            "uniprot_id": "GWT1_YEAST",
            "refseq_ac": "NP_012444",
            "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": "GPI-anchored wall transfer protein 1",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl-phosphotidylinositol O-acyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GWT1",
                    "type": "recommended"
                },
                {
                    "name": "GWT1",
                    "type": "synonym"
                },
                {
                    "name": "J0916",
                    "type": "synonym"
                }
            ],
            "record_id": "P47026-1",
            "evidence": [
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TSN4-1",
            "uniprot_ac": "Q7TSN4",
            "uniprot_id": "PIGW_RAT",
            "refseq_ac": "NP_919443",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Glucosaminyl-phosphatidylinositol-acyltransferase PIGW",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "GlcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                },
                {
                    "name": "glcN-PI-acyltransferase",
                    "type": "synonym"
                },
                {
                    "name": "glucosaminyl-phosphatidylinositol- acyltransferase PIGW",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class W",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigw",
                    "type": "recommended"
                },
                {
                    "name": "Pigw",
                    "type": "synonym"
                },
                {
                    "name": "Znhit3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TSN4-1",
            "evidence": [
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W096-1",
            "uniprot_ac": "Q9W096",
            "uniprot_id": "Q9W096_DROME",
            "refseq_ac": "NP_001261279",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG18173-PB",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Wb-PB",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class W b, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-Wb",
                    "type": "recommended"
                },
                {
                    "name": "CG18173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG18173",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG18173",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Wb",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "PIGWb",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W096-1",
            "evidence": [
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VQB8-1",
            "uniprot_ac": "Q9VQB8",
            "uniprot_id": "Q9VQB8_DROME",
            "refseq_ac": "NP_608679",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class W protein",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "CG9870-PA",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Wa-PA",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class W a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-Wa",
                    "type": "recommended"
                },
                {
                    "name": "CG9870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9870",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9870",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Wa",
                    "type": "synonym"
                },
                {
                    "name": "PIG-W",
                    "type": "synonym"
                },
                {
                    "name": "PIGWWa",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VQB8-1",
            "evidence": [
                {
                    "id": "0070432",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070432"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070432"
}