{
    "disease_id": "DOID:0070563",
    "recommended_name": {
        "id": "DOID:0070563",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070563",
        "name": "glucose-galactose malabsorption",
        "description": "A glucose metabolism disease characterized by a defect in glucose and galactose transport across the intestinal brush border, resulting in neonatal onset of life-threatening watery diarrhea and dehydration, that has_material_basis_in homozygous mutation in the SLC5A1 gene on chromosome 22q12.3."
    },
    "synonyms": [
        {
            "id": "DOID:0070563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070563",
            "name": "GGM",
            "description": ""
        },
        {
            "id": "DOID:0070563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070563",
            "name": "SGLT1 deficiency",
            "description": ""
        },
        {
            "id": "DOID:0070563",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070563",
            "name": "monosaccharide malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "glucose-galactose malabsorption",
            "description": "Glucose-galactose malabsorption (GGM) is a very rare, potentially lethal, genetic metabolic disease characterized by impaired glucose-galactose absorption resulting in severe watery diarrhea and dehydration with onset inthe neonatal period."
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "SGLT1 deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "glucose-galactose malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "Complex carbohydrate intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "GGM",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "carbohydrate intolerance of glucose galactose",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "glucose galactose malabsorption deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0011731",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "name": "glucose/galactose malabsorption",
            "description": ""
        },
        {
            "id": "MIM:606824",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/606824",
            "name": "Congenital glucose/galactose malabsorption",
            "description": "Congenital glucose/galactose malabsorption"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070563"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070563",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070563",
            "categories": []
        },
        {
            "id": "MONDO:0011731",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0011731",
            "categories": []
        },
        {
            "id": "MIM:606824",
            "database": "MIM",
            "url": "https://www.omim.org/entry/606824",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q8C3K6-1",
            "uniprot_ac": "Q8C3K6",
            "uniprot_id": "SC5A1_MOUSE",
            "refseq_ac": "NP_062784",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "High affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/glucose cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/glucose cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5, member 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5, member alpha 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a1",
                    "type": "recommended"
                },
                {
                    "name": "Nagt",
                    "type": "synonym"
                },
                {
                    "name": "Sglt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8C3K6-1",
            "evidence": [
                {
                    "id": "0070563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P13866-1",
            "uniprot_ac": "P13866",
            "uniprot_id": "SC5A1_HUMAN",
            "refseq_ac": "NP_000334",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "High affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/glucose cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Na+/glucose cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 1",
                    "type": "synonym"
                },
                {
                    "name": "high affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/glucose cotransporter 1 isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/glucose cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC5A1",
                    "type": "recommended"
                },
                {
                    "name": "D22S675",
                    "type": "synonym"
                },
                {
                    "name": "NAGT",
                    "type": "synonym"
                },
                {
                    "name": "SGLT-1",
                    "type": "synonym"
                },
                {
                    "name": "SGLT1",
                    "type": "synonym"
                },
                {
                    "name": "SLC5A1",
                    "type": "synonym"
                }
            ],
            "record_id": "P13866-1",
            "evidence": [
                {
                    "id": "0011731",
                    "database": "MONDO",
                    "url": "https://monarchinitiative.org/disease/MONDO:0011731"
                },
                {
                    "id": "606824",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/606824"
                },
                {
                    "id": "0070563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070563"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53790-1",
            "uniprot_ac": "P53790",
            "uniprot_id": "SC5A1_RAT",
            "refseq_ac": "NP_037165",
            "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 1",
                    "type": "recommended"
                },
                {
                    "name": "High affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/glucose cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 1",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5, member alpha 1 (Na+/glucose cotransporter)",
                    "type": "synonym"
                },
                {
                    "name": "high affinity sodium-glucose cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/glucose cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/glucose cotransporter), member 1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a1",
                    "type": "recommended"
                },
                {
                    "name": "SGLT1a",
                    "type": "synonym"
                },
                {
                    "name": "SGLT1",
                    "type": "synonym"
                },
                {
                    "name": "Sglt1",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a1",
                    "type": "synonym"
                }
            ],
            "record_id": "P53790-1",
            "evidence": [
                {
                    "id": "0070563",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070563"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070563"
}