{
    "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": []
}