{
    "disease_id": "DOID:0080655",
    "recommended_name": {
        "id": "DOID:0080655",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080655",
        "name": "hypophosphatemic nephrolithiasis/osteoporosis",
        "description": "A kidney disease that is characterized by formation of renal calcium stones or bone demineralization."
    },
    "synonyms": [
        {
            "id": "MONDO:0012850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012850",
            "name": "hypophosphatemic nephrolithiasis/osteoporosis 1",
            "description": ""
        },
        {
            "id": "MONDO:0012850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012850",
            "name": "hypophosphatemic nephrolithiasis/osteoporosis type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012850",
            "name": "nephrolithiasis/osteoporosis, hypophosphatemic, type 1",
            "description": ""
        },
        {
            "id": "MONDO:0012850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012850",
            "name": "NPHLOP1",
            "description": ""
        },
        {
            "id": "MONDO:0012850",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012850",
            "name": "nephrolithiasis/osteoporosis, hypophosphatemic, 1",
            "description": ""
        },
        {
            "id": "MIM:612286",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612286",
            "name": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1",
            "description": "Nephrolithiasis/osteoporosis, hypophosphatemic, 1"
        }
    ],
    "children": [
        {
            "id": "DOID:0080077",
            "label": "hypophosphatemic nephrolithiasis/osteoporosis 1",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0080078",
            "label": "hypophosphatemic nephrolithiasis/osteoporosis 2",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0080655",
        "DOID:0080077",
        "DOID:0080078"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080655",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080655",
            "categories": []
        },
        {
            "id": "MONDO:0012850",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012850",
            "categories": []
        },
        {
            "id": "MIM:612286",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612286",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q06495-1",
            "uniprot_ac": "Q06495",
            "uniprot_id": "NPT2A_HUMAN",
            "refseq_ac": "NP_001161051",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent phosphate transport protein 2A",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/Pi cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Na+-phosphate cotransporter type II",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "NaPi-3",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "Sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 34 member 1",
                    "type": "synonym"
                },
                {
                    "name": "naPi-2a",
                    "type": "synonym"
                },
                {
                    "name": "renal sodium-dependent phosphate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A isoform 2",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium-phosphate transport protein 2A",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate co-transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/phosphate cotransporter 2A",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 17 (sodium phosphate), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (sodium phosphate), member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 34 (type II sodium/phosphate cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC34A1",
                    "type": "recommended"
                },
                {
                    "name": "FRTS2",
                    "type": "synonym"
                },
                {
                    "name": "HCINF2",
                    "type": "synonym"
                },
                {
                    "name": "NAPI-3",
                    "type": "synonym"
                },
                {
                    "name": "NPHLOP1",
                    "type": "synonym"
                },
                {
                    "name": "NPT2",
                    "type": "synonym"
                },
                {
                    "name": "NPTIIa",
                    "type": "synonym"
                },
                {
                    "name": "SLC11",
                    "type": "synonym"
                },
                {
                    "name": "SLC17A2",
                    "type": "synonym"
                },
                {
                    "name": "SLC34A1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q06495-1",
            "evidence": [
                {
                    "id": "612286",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612286"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080655"
}