{
    "disease_id": "DOID:0070435",
    "recommended_name": {
        "id": "DOID:0070435",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070435",
        "name": "hyperphosphatasia with impaired intellectual development syndrome 3",
        "description": "A hyperphosphatasia with impaired intellectual development syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the PGAP2 gene on chromosome 11p15."
    },
    "synonyms": [
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070435",
            "name": "hyperphosphatasia with mental retardation syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070435",
            "name": "GPIBD8",
            "description": ""
        },
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070435",
            "name": "HPMRS3",
            "description": ""
        },
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070435",
            "name": "glycosylphosphatidylinositol biosynthesis defect 8",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "hyperphosphatasia with intellectual disability syndrome 3",
            "description": "Any hyperphosphatasia-intellectual disability syndrome in which the cause of the disease is a mutation in the PGAP2 gene."
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "PGAP2 hyperphosphatasia-intellectual disability syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "hyperphosphatasia with intellectual disability syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "hyperphosphatasia with intellectual disability syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "hyperphosphatasia with mental retardation syndrome 3",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "hyperphosphatasia with mental retardation syndrome type 3",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "HPMRS3",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "mental retardation, autosomal recessive 17",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "mental retardation, autosomal recessive 21",
            "description": ""
        },
        {
            "id": "MIM:614207",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/614207",
            "name": "Hyperphosphatasia with impaired intellectual development syndrome 3",
            "description": "Hyperphosphatasia with impaired intellectual development syndrome 3"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070435"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070435",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070435",
            "categories": []
        },
        {
            "id": "MONDO:0013628",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "categories": []
        },
        {
            "id": "MIM:614207",
            "database": "MIM",
            "url": "https://www.omim.org/entry/614207",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q5BL33-1",
            "uniprot_ac": "Q5BL33",
            "uniprot_id": "PGAP2_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyltransferase PGAP2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pgap2",
                    "type": "recommended"
                },
                {
                    "name": "frag1",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc51g11",
                    "type": "synonym"
                },
                {
                    "name": "zgc:101568",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5BL33-1",
            "evidence": [
                {
                    "id": "0070435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TQR0-1",
            "uniprot_ac": "Q3TQR0",
            "uniprot_id": "PGAP2_MOUSE",
            "refseq_ac": "NP_001278287",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyltransferase PGAP2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                },
                {
                    "name": "acyltransferase PGAP2 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "acyltransferase PGAP2",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgap2",
                    "type": "recommended"
                },
                {
                    "name": "1810006G21Rik",
                    "type": "synonym"
                },
                {
                    "name": "Frag1",
                    "type": "synonym"
                },
                {
                    "name": "Pgap2",
                    "type": "synonym"
                },
                {
                    "name": "clpex",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TQR0-1",
            "evidence": [
                {
                    "id": "0070435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9UHJ9-1",
            "uniprot_ac": "Q9UHJ9",
            "uniprot_id": "PGAP2_HUMAN",
            "refseq_ac": "NP_001243164",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyltransferase PGAP2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                },
                {
                    "name": "acyltransferase PGAP2 isoform 3",
                    "type": "synonym"
                },
                {
                    "name": "acyltransferase PGAP2",
                    "type": "synonym"
                },
                {
                    "name": "cell wall biogenesis 43 N-terminal homolog",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGAP2",
                    "type": "recommended"
                },
                {
                    "name": "CWH43-N",
                    "type": "synonym"
                },
                {
                    "name": "FRAG1",
                    "type": "synonym"
                },
                {
                    "name": "HPMRS3",
                    "type": "synonym"
                },
                {
                    "name": "MRT17",
                    "type": "synonym"
                },
                {
                    "name": "MRT21",
                    "type": "synonym"
                },
                {
                    "name": "PGAP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9UHJ9-1",
            "evidence": [
                {
                    "id": "0013628",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0013628"
                },
                {
                    "id": "614207",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/614207"
                },
                {
                    "id": "PGAP2",
                    "database": "Genomics England",
                    "url": "https://panelapp.genomicsengland.co.uk/panels/25/gene/PGAP2/#!details"
                },
                {
                    "id": "0070435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q2ABP3-1",
            "uniprot_ac": "Q2ABP3",
            "uniprot_id": "PGAP2_RAT",
            "refseq_ac": "NP_446347",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Acyltransferase PGAP2",
                    "type": "recommended"
                },
                {
                    "name": "2.3.-.-",
                    "type": "synonym"
                },
                {
                    "name": "FGF receptor-activating protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                },
                {
                    "name": "acyltransferase PGAP2",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins factor 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgap2",
                    "type": "recommended"
                },
                {
                    "name": "Frag1",
                    "type": "synonym"
                },
                {
                    "name": "Pgap2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q2ABP3-1",
            "evidence": [
                {
                    "id": "0070435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VWK6-1",
            "uniprot_ac": "Q9VWK6",
            "uniprot_id": "PGP2L_DROME",
            "refseq_ac": "NP_573361",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Post-GPI attachment to proteins factor 2-like",
                    "type": "recommended"
                },
                {
                    "name": "CG7990-PA",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform A",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG7990",
                    "type": "recommended"
                },
                {
                    "name": "CG7990",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG7990",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG7990",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VWK6-1",
            "evidence": [
                {
                    "id": "0070435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070435"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VPT7-1",
            "uniprot_ac": "Q9VPT7",
            "uniprot_id": "PGAP2_DROME",
            "refseq_ac": "NP_608548",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Post-GPI attachment to proteins factor 2",
                    "type": "recommended"
                },
                {
                    "name": "CG3876-PA",
                    "type": "synonym"
                },
                {
                    "name": "PGAP2-PA",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGAP2",
                    "type": "recommended"
                },
                {
                    "name": "CG3876",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3876",
                    "type": "synonym"
                },
                {
                    "name": "PGAP2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VPT7-1",
            "evidence": [
                {
                    "id": "0070435",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070435"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070435"
}