{
    "disease_id": "DOID:0070437",
    "recommended_name": {
        "id": "DOID:0070437",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070437",
        "name": "hyperphosphatasia with impaired intellectual development syndrome 6",
        "description": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous mutation in the PIGY gene on chromosome 4q22."
    },
    "synonyms": [
        {
            "id": "DOID:0070437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070437",
            "name": "GPIBD40",
            "description": ""
        },
        {
            "id": "DOID:0070437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070437",
            "name": "HPMRS4",
            "description": ""
        },
        {
            "id": "DOID:0070437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070437",
            "name": "hyperphosphatasia with mental retardation syndrome 4",
            "description": ""
        },
        {
            "id": "DOID:0070437",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070437",
            "name": "glycosylphosphatidylinositol biosynthesis defect 40",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia with intellectual disability syndrome 6",
            "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PIGY gene."
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "HPMRS6",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "PIGY hyperphosphatasia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia with intellectual disability syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia with intellectual disability syndrome 6; HPMRS6",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia with intellectual disability syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia with mental retardation syndrome 6",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia with mental retardation syndrome type 6",
            "description": ""
        },
        {
            "id": "MONDO:0014780",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "name": "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY",
            "description": ""
        },
        {
            "id": "MIM:616809",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/616809",
            "name": "Hyperphosphatasia with impaired intellectual development syndrome 6",
            "description": "Hyperphosphatasia with impaired intellectual development syndrome 6"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070437"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070437",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070437",
            "categories": []
        },
        {
            "id": "MONDO:0014780",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014780",
            "categories": []
        },
        {
            "id": "MIM:616809",
            "database": "MIM",
            "url": "https://www.omim.org/entry/616809",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P0C1P0-1",
            "uniprot_ac": "P0C1P0",
            "uniprot_id": "PIGY_MOUSE",
            "refseq_ac": "NP_001076001",
            "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 Y",
                    "type": "recommended"
                },
                {
                    "name": "PIG-Y",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class Y protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Y",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class Y protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigy",
                    "type": "recommended"
                },
                {
                    "name": "1810008A14Rik",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Y",
                    "type": "synonym"
                },
                {
                    "name": "Pigyl",
                    "type": "synonym"
                },
                {
                    "name": "Pigy",
                    "type": "synonym"
                }
            ],
            "record_id": "P0C1P0-1",
            "evidence": [
                {
                    "id": "0070437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3MUY2-1",
            "uniprot_ac": "Q3MUY2",
            "uniprot_id": "PIGY_HUMAN",
            "refseq_ac": "NP_001036081",
            "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 Y",
                    "type": "recommended"
                },
                {
                    "name": "PIG-Y",
                    "type": "synonym"
                },
                {
                    "name": "Phosphatidylinositol-glycan biosynthesis class Y protein",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Y",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol-glycan biosynthesis class Y protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PIGY",
                    "type": "recommended"
                },
                {
                    "name": "HPMRS6",
                    "type": "synonym"
                },
                {
                    "name": "PIG-Y",
                    "type": "synonym"
                },
                {
                    "name": "PIGY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3MUY2-1",
            "evidence": [
                {
                    "id": "0014780",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0014780"
                },
                {
                    "id": "616809",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/616809"
                },
                {
                    "id": "0070437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070437"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABK0M0F7-1",
            "uniprot_ac": "A0ABK0M0F7",
            "uniprot_id": "A0ABK0M0F7_RAT",
            "refseq_ac": "NP_001258904",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Phosphatidylinositol glycan anchor biosynthesis, class Y",
                    "type": "synonym"
                },
                {
                    "name": "phosphatidylinositol N-acetylglucosaminyltransferase subunit Y",
                    "type": "synonym"
                },
                {
                    "name": "rCG31672-like",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pigy",
                    "type": "recommended"
                },
                {
                    "name": "Pigyl",
                    "type": "synonym"
                },
                {
                    "name": "Pigy",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABK0M0F7-1",
            "evidence": [
                {
                    "id": "0070437",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070437"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070437"
}