{
    "disease_id": "DOID:0070613",
    "recommended_name": {
        "id": "DOID:0070613",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070613",
        "name": "familial renal glucosuria",
        "description": "A renal glycosuria that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the SLC5A2 gene on chromosome 16p11.2."
    },
    "synonyms": [
        {
            "id": "DOID:0070613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070613",
            "name": "FRG",
            "description": ""
        },
        {
            "id": "DOID:0070613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070613",
            "name": "SGLT2 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070613",
            "name": "familial renal glycosuria",
            "description": ""
        },
        {
            "id": "DOID:0070613",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070613",
            "name": "hereditary renal glycosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "familial renal glucosuria",
            "description": "Familial Renal Glucosuria (FRG) is characterized by the presence of persistent isolated glucosuria in the absence of both generalized proximal tubular dysfunction and hyperglycemia. FRG is usually considered a benign entity as most patients are not affected by severe clinical consequences. Polyuria and enuresis and later a mild growth and pubertal maturation delay are the only manifestations that have been reported during a follow-up period of 30 years. Episodic dehydration and ketosis during pregnancy and starvation and an increased incidence of urinary tract infections have occasionally been reported in severe cases. FRG is caused by loss-of-function mutations in the gene SLC5A2 (16p11.2)."
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "Renal Glycosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "SGLT2 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "familial renal glucosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "GLYS",
            "description": ""
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "renal glucosuria",
            "description": ""
        },
        {
            "id": "MONDO:0009297",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "name": "renal glycosuria",
            "description": ""
        },
        {
            "id": "MIM:233100",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/233100",
            "name": "Renal glucosuria",
            "description": "Renal glucosuria"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070613"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070613",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070613",
            "categories": []
        },
        {
            "id": "MONDO:0009297",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009297",
            "categories": []
        },
        {
            "id": "MIM:233100",
            "database": "MIM",
            "url": "https://www.omim.org/entry/233100",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q923I7-1",
            "uniprot_ac": "Q923I7",
            "uniprot_id": "SC5A2_MOUSE",
            "refseq_ac": "NP_573517",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/glucose cotransporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Low affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/glucose cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 2",
                    "type": "synonym"
                },
                {
                    "name": "low affinity sodium-dependent glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/glucose cotransporter 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a2",
                    "type": "recommended"
                },
                {
                    "name": "Sglt2",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a2",
                    "type": "synonym"
                }
            ],
            "record_id": "Q923I7-1",
            "evidence": [
                {
                    "id": "0070613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P31639-1",
            "uniprot_ac": "P31639",
            "uniprot_id": "SC5A2_HUMAN",
            "refseq_ac": "NP_003032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/glucose cotransporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Low affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/glucose cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 2",
                    "type": "synonym"
                },
                {
                    "name": "low affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/glucose cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/glucose cotransporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/glucose transporter), member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC5A2",
                    "type": "recommended"
                },
                {
                    "name": "SGLT2",
                    "type": "synonym"
                },
                {
                    "name": "SLC5A2",
                    "type": "synonym"
                }
            ],
            "record_id": "P31639-1",
            "evidence": [
                {
                    "id": "233100",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/233100"
                },
                {
                    "id": "0070613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070613"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53792-1",
            "uniprot_ac": "P53792",
            "uniprot_id": "SC5A2_RAT",
            "refseq_ac": "NP_072112",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium/glucose cotransporter 2",
                    "type": "recommended"
                },
                {
                    "name": "Low affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/glucose cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 2",
                    "type": "synonym"
                },
                {
                    "name": "low affinity Na-dependent glucose transporter (SGLT2)",
                    "type": "synonym"
                },
                {
                    "name": "low affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/glucose cotransporter 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/glucose cotransporter), member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a2",
                    "type": "recommended"
                },
                {
                    "name": "Sglt2",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a2",
                    "type": "synonym"
                }
            ],
            "record_id": "P53792-1",
            "evidence": [
                {
                    "id": "0070613",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070613"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070613"
}