{
    "disease_id": "DOID:0070435",
    "recommended_name": {
        "id": "DOID:0070435",
        "resource": "Disease Ontology",
        "url": "http://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": "http://disease-ontology.org/term/DOID:0070435",
            "name": "GPIBD8",
            "description": ""
        },
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070435",
            "name": "HPMRS3",
            "description": ""
        },
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "http://disease-ontology.org/term/DOID:0070435",
            "name": "hyperphosphatasia with mental retardation syndrome 3",
            "description": ""
        },
        {
            "id": "DOID:0070435",
            "resource": "Disease Ontology",
            "url": "http://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": "glycosylphosphatidylinositol biosynthesis defect 8",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "intellectual disability, autosomal recessive 17",
            "description": ""
        },
        {
            "id": "MONDO:0013628",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0013628",
            "name": "intellectual disability, autosomal recessive 21",
            "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"
        }
    ]
}