{
    "disease_id": "DOID:0070431",
    "recommended_name": {
        "id": "DOID:0070431",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070431",
        "name": "hyperphosphatasia with impaired intellectual development syndrome",
        "description": "An autosomal recessive intellectual developmental disorder characterized by hyperphosphatasia and intellectual disability. Distinctive facial features including hypertelorism, long palpebral fissures, a nose with a broad bridge and a rounded tip, downturned corners of the mouth, and a thin upper lip are also often observed."
    },
    "synonyms": [
        {
            "id": "DOID:0070431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070431",
            "name": "HPMRS",
            "description": ""
        },
        {
            "id": "DOID:0070431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070431",
            "name": "Mabry disease",
            "description": ""
        },
        {
            "id": "DOID:0070431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070431",
            "name": "Mabry syndrome",
            "description": ""
        },
        {
            "id": "DOID:0070431",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070431",
            "name": "hyperphosphatasia with mental retardation syndrome",
            "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": "DOID:0070432",
            "label": "hyperphosphatasia with impaired intellectual development syndrome 5",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070433",
            "label": "hyperphosphatasia with impaired intellectual development syndrome 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070434",
            "label": "hyperphosphatasia with impaired intellectual development syndrome 2",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070435",
            "label": "hyperphosphatasia with impaired intellectual development syndrome 3",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070436",
            "label": "hyperphosphatasia with impaired intellectual development syndrome 4",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070437",
            "label": "hyperphosphatasia with impaired intellectual development syndrome 6",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070431",
        "DOID:0070434",
        "DOID:0070437",
        "DOID:0070435",
        "DOID:0070433",
        "DOID:0070432",
        "DOID:0070436"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070431",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070431",
            "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": "239300",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/239300"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A8WFS8-1",
            "uniprot_ac": "A8WFS8",
            "uniprot_id": "PGAP3_DANRE",
            "refseq_ac": "NP_001108063",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3",
                    "type": "synonym"
                },
                {
                    "name": "PER1-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 3",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "pgap3",
                    "type": "recommended"
                },
                {
                    "name": "perld1",
                    "type": "synonym"
                },
                {
                    "name": "pgap3",
                    "type": "synonym"
                },
                {
                    "name": "zgc:171485",
                    "type": "synonym"
                }
            ],
            "record_id": "A8WFS8-1",
            "evidence": [
                {
                    "id": "0070431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A2A559-1",
            "uniprot_ac": "A2A559",
            "uniprot_id": "PGAP3_MOUSE",
            "refseq_ac": "NP_001028709",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3",
                    "type": "synonym"
                },
                {
                    "name": "PER1-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 3",
                    "type": "synonym"
                },
                {
                    "name": "per1-like domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgap3",
                    "type": "recommended"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "D430035D22Rik",
                    "type": "synonym"
                },
                {
                    "name": "Perld1",
                    "type": "synonym"
                },
                {
                    "name": "Pgap3",
                    "type": "synonym"
                }
            ],
            "record_id": "A2A559-1",
            "evidence": [
                {
                    "id": "0070431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25625-1",
            "uniprot_ac": "P25625",
            "uniprot_id": "PER1_YEAST",
            "refseq_ac": "NP_009973",
            "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": "Protein PER1",
                    "type": "recommended"
                },
                {
                    "name": "Per1p",
                    "type": "synonym"
                },
                {
                    "name": "Protein processing in the ER protein 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PER1",
                    "type": "recommended"
                },
                {
                    "name": "COS16",
                    "type": "synonym"
                },
                {
                    "name": "PER1",
                    "type": "synonym"
                },
                {
                    "name": "YCR44C",
                    "type": "synonym"
                }
            ],
            "record_id": "P25625-1",
            "evidence": [
                {
                    "id": "0070431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0ABZ3NNL2-1",
            "uniprot_ac": "A0ABZ3NNL2",
            "uniprot_id": "A0ABZ3NNL2_RAT",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Post-GPI attachment to proteins factor 3",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Pgap3",
                    "type": "recommended"
                },
                {
                    "name": "Perld1",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ABZ3NNL2-1",
            "evidence": [
                {
                    "id": "0070431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q7K0P4-1",
            "uniprot_ac": "Q7K0P4",
            "uniprot_id": "PGAP3_DROME",
            "refseq_ac": "NP_610223",
            "glycoprotein": "yes",
            "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 3",
                    "type": "recommended"
                },
                {
                    "name": "CG3271-PB",
                    "type": "synonym"
                },
                {
                    "name": "PGAP3-PB",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins 3 ortholog",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins 3, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGAP3",
                    "type": "recommended"
                },
                {
                    "name": "CG3271",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3271",
                    "type": "synonym"
                },
                {
                    "name": "PGAP3",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7K0P4-1",
            "evidence": [
                {
                    "id": "0070431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070431"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q96FM1-1",
            "uniprot_ac": "Q96FM1",
            "uniprot_id": "PGAP3_HUMAN",
            "refseq_ac": "NP_001278655",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3",
                    "type": "recommended"
                },
                {
                    "name": "3.1.1.-",
                    "type": "synonym"
                },
                {
                    "name": "COS16 homolog",
                    "type": "synonym"
                },
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3 isoform 2 precursor",
                    "type": "synonym"
                },
                {
                    "name": "GPI-specific phospholipase A2-like PGAP3",
                    "type": "synonym"
                },
                {
                    "name": "Gene coamplified with ERBB2 protein",
                    "type": "synonym"
                },
                {
                    "name": "PER1-like domain-containing protein 1",
                    "type": "synonym"
                },
                {
                    "name": "Post-GPI attachment to proteins factor 3",
                    "type": "synonym"
                },
                {
                    "name": "gene coamplified with ERBB2 protein",
                    "type": "synonym"
                },
                {
                    "name": "hCOS16",
                    "type": "synonym"
                },
                {
                    "name": "per1-like domain containing 1",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins 3",
                    "type": "synonym"
                },
                {
                    "name": "post-GPI attachment to proteins factor 3",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PGAP3",
                    "type": "recommended"
                },
                {
                    "name": "AGLA546",
                    "type": "synonym"
                },
                {
                    "name": "CAB2",
                    "type": "synonym"
                },
                {
                    "name": "PERLD1",
                    "type": "synonym"
                },
                {
                    "name": "PGAP3",
                    "type": "synonym"
                },
                {
                    "name": "PP1498",
                    "type": "synonym"
                },
                {
                    "name": "PRO1100",
                    "type": "synonym"
                },
                {
                    "name": "hCOS16",
                    "type": "synonym"
                }
            ],
            "record_id": "Q96FM1-1",
            "evidence": [
                {
                    "id": "0070431",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070431"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070431"
}