{
    "disease_id": "DOID:0111633",
    "recommended_name": {
        "id": "DOID:0111633",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111633",
        "name": "congenital sucrase-isomaltase deficiency",
        "description": "A carbohydrate metabolic disorder characterized by malabsorption of oligosaccharides and disaccharides that has_material_basis_in homozygous or compound heterozygous mutation in SI on chromosome 3q26.1."
    },
    "synonyms": [
        {
            "id": "DOID:0111633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111633",
            "name": "CSID",
            "description": ""
        },
        {
            "id": "DOID:0111633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111633",
            "name": "SI deficiency",
            "description": ""
        },
        {
            "id": "DOID:0111633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111633",
            "name": "congenital sucrase-isomaltose malabsorption",
            "description": ""
        },
        {
            "id": "DOID:0111633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111633",
            "name": "congenital sucrose intolerance",
            "description": ""
        },
        {
            "id": "DOID:0111633",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111633",
            "name": "disaccharide intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "congenital sucrase-isomaltase deficiency",
            "description": "A disorder of carbohydrate absorption and transport caused by autosomal recessive mutation of the SI gene, characterized by malabsorption of sucrose and maltose."
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "CSID",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "congenital sucrase-isomaltase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "congenital sucrose intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "disaccharide intolerance",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "genetic sucrase-isomaltose malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "sucrase-isomaltase deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "congenital sucrose-isomaltase malabsorption",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "disaccharide intolerance, 1",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "sucrase-isomaltase deficiency, congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "sucrose intolerance congenital",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "sucrose isomaltose enzyme deficiency",
            "description": ""
        },
        {
            "id": "MONDO:0009114",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "name": "sucrose-isomaltase malabsorption, congenital",
            "description": ""
        },
        {
            "id": "MIM:222900",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/222900",
            "name": "Congenital sucrase-isomaltase deficiency",
            "description": "Congenital sucrase-isomaltase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111633"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111633",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111633",
            "categories": []
        },
        {
            "id": "MONDO:0009114",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009114",
            "categories": []
        },
        {
            "id": "MIM:222900",
            "database": "MIM",
            "url": "https://www.omim.org/entry/222900",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "P14410-1",
            "uniprot_ac": "P14410",
            "uniprot_id": "SUIS_HUMAN",
            "refseq_ac": "NP_001032",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sucrase-isomaltase, intestinal",
                    "type": "recommended"
                },
                {
                    "name": "Alpha-methylglucosidase",
                    "type": "synonym"
                },
                {
                    "name": "Oligo-1,6-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "alpha-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "oligosaccharide alpha-1,6-glucosidase",
                    "type": "synonym"
                },
                {
                    "name": "sucrase-isomaltase, intestinal",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SI",
                    "type": "recommended"
                },
                {
                    "name": "SI",
                    "type": "synonym"
                }
            ],
            "record_id": "P14410-1",
            "evidence": [
                {
                    "id": "222900",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/222900"
                },
                {
                    "id": "0111633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P23739-1",
            "uniprot_ac": "P23739",
            "uniprot_id": "SUIS_RAT",
            "refseq_ac": "",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sucrase-isomaltase, intestinal",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Si",
                    "type": "recommended"
                }
            ],
            "record_id": "P23739-1",
            "evidence": [
                {
                    "id": "0111633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O95750-1",
            "uniprot_ac": "O95750",
            "uniprot_id": "FGF19_HUMAN",
            "refseq_ac": "NP_005108",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Fibroblast growth factor 19",
                    "type": "recommended"
                },
                {
                    "name": "FGF-19",
                    "type": "synonym"
                },
                {
                    "name": "fibroblast growth factor 19 precursor",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "FGF19",
                    "type": "recommended"
                },
                {
                    "name": "FGF19",
                    "type": "synonym"
                },
                {
                    "name": "PRO533",
                    "type": "synonym"
                }
            ],
            "record_id": "O95750-1",
            "evidence": [
                {
                    "id": "0111633",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111633"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111633"
}