{
    "disease_id": "DOID:0070433",
    "recommended_name": {
        "id": "DOID:0070433",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070433",
        "name": "hyperphosphatasia with impaired intellectual development syndrome 1",
        "description": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PIGV gene on chromosome 1p36."
    },
    "synonyms": [
        {
            "id": "DOID:0070433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070433",
            "name": "hyperphosphatasia with mental retardation syndrome 1",
            "description": ""
        },
        {
            "id": "DOID:0070433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070433",
            "name": "GPIBD2",
            "description": ""
        },
        {
            "id": "DOID:0070433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070433",
            "name": "HPMRS1",
            "description": ""
        },
        {
            "id": "DOID:0070433",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070433",
            "name": "glycosylphosphatidylinositol biosynthesis defect 2",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "hyperphosphatasia with intellectual disability syndrome 1",
            "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGV gene."
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "PIGV hyperphosphatasia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "hyperphosphatasia with intellectual disability syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "hyperphosphatasia with intellectual disability syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "hyperphosphatasia with mental retardation syndrome 1",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "hyperphosphatasia with mental retardation syndrome type 1",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV",
            "description": ""
        },
        {
            "id": "MONDO:0009398",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "name": "HPMRS1",
            "description": ""
        },
        {
            "id": "MIM:239300",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/239300",
            "name": "Hyperphosphatasia with impaired intellectual development syndrome 1",
            "description": "Hyperphosphatasia with impaired intellectual development syndrome 1"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070433"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070433",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070433",
            "categories": []
        },
        {
            "id": "MONDO:0009398",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009398",
            "categories": []
        },
        {
            "id": "MIM:239300",
            "database": "MIM",
            "url": "https://www.omim.org/entry/239300",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q9NUD9-1",
            "uniprot_ac": "Q9NUD9",
            "uniprot_id": "PIGV_HUMAN",
            "refseq_ac": "NP_001189483",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                },
                {
                    "name": "Ybr004c homolog",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man dependent GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "dol-P-Man dependent GPI mannosyltransferase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGV",
                    "type": "recommended"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "HPMRS1",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V",
                    "type": "synonym"
                },
                {
                    "name": "PIGV",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9NUD9-1",
            "evidence": [
                {
                    "id": "55650",
                    "database": "GlyCosmos",
                    "url": "https://glycosmos.org/glycogenes/show/55650#disease"
                },
                {
                    "id": "0009398",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0009398"
                },
                {
                    "id": "239300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/239300"
                },
                {
                    "id": "PIGV",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PIGV/#!details"
                },
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A0R4ITR4-1",
            "uniprot_ac": "A0A0R4ITR4",
            "uniprot_id": "A0A0R4ITR4_DANRE",
            "refseq_ac": "NP_001186989",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "palmitoyltransferase ZDHHC18-A",
                    "type": "synonym"
                },
                {
                    "name": "zinc finger DHHC domain-containing protein 18-A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pigv",
                    "type": "recommended"
                },
                {
                    "name": "pigv",
                    "type": "synonym"
                },
                {
                    "name": "zdhhc18a",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A0R4ITR4-1",
            "evidence": [
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7TPN3-1",
            "uniprot_ac": "Q7TPN3",
            "uniprot_id": "PIGV_MOUSE",
            "refseq_ac": "NP_001139427",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2 isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class V",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigv",
                    "type": "recommended"
                },
                {
                    "name": "B330013B03",
                    "type": "synonym"
                },
                {
                    "name": "D430024F16Rik",
                    "type": "synonym"
                },
                {
                    "name": "Pigv",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7TPN3-1",
            "evidence": [
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P63276-1",
            "uniprot_ac": "P63276",
            "uniprot_id": "RS17_MOUSE",
            "refseq_ac": "NP_033118",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Small ribosomal subunit protein eS17",
                    "type": "recommended"
                },
                {
                    "name": "40S ribosomal protein S17",
                    "type": "synonym"
                },
                {
                    "name": "small ribosomal subunit protein eS17",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rps17",
                    "type": "recommended"
                },
                {
                    "name": "Rps17",
                    "type": "synonym"
                }
            ],
            "record_id": "P63276-1",
            "evidence": [
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P38211-1",
            "uniprot_ac": "P38211",
            "uniprot_id": "GPI18_YEAST",
            "refseq_ac": "NP_009558",
            "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 mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-anchor transamidase GPI18",
                    "type": "synonym"
                },
                {
                    "name": "Glycosylphosphatidylinositol-anchor biosynthesis protein 18",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "GPI18",
                    "type": "recommended"
                },
                {
                    "name": "GPI18",
                    "type": "synonym"
                },
                {
                    "name": "YBR0110",
                    "type": "synonym"
                }
            ],
            "record_id": "P38211-1",
            "evidence": [
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5KR61-1",
            "uniprot_ac": "Q5KR61",
            "uniprot_id": "PIGV_RAT",
            "refseq_ac": "NP_001010966",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2 isoform a",
                    "type": "synonym"
                },
                {
                    "name": "GPI alpha-1,6-mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan, class V",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class V protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigv",
                    "type": "recommended"
                },
                {
                    "name": "Pigv",
                    "type": "synonym"
                },
                {
                    "name": "RGD1309526",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5KR61-1",
            "evidence": [
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9V7W1-1",
            "uniprot_ac": "Q9V7W1",
            "uniprot_id": "PIGV_DROME",
            "refseq_ac": "NP_001286508",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI mannosyltransferase 2",
                    "type": "recommended"
                },
                {
                    "name": "2.4.1.-",
                    "type": "synonym"
                },
                {
                    "name": "CG44239-PA",
                    "type": "synonym"
                },
                {
                    "name": "GPI mannosyltransferase II",
                    "type": "synonym"
                },
                {
                    "name": "GPI-MT-II",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V-PA",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis class V, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis, class V ortholog",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol glycan anchor biosynthesis, class V",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIG-V",
                    "type": "recommended"
                },
                {
                    "name": "CG44239",
                    "type": "synonym"
                },
                {
                    "name": "CG6657",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG44239",
                    "type": "synonym"
                },
                {
                    "name": "PIG-V",
                    "type": "synonym"
                },
                {
                    "name": "PIGV",
                    "type": "synonym"
                },
                {
                    "name": "gpi-mt2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9V7W1-1",
            "evidence": [
                {
                    "id": "0070433",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070433"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070433"
}