{
    "disease_id": "DOID:0111646",
    "recommended_name": {
        "id": "DOID:0111646",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111646",
        "name": "congenital lactase deficiency",
        "description": "A carbohydrate metabolic disorder characterized by watery diarrhea in infants fed with breast milk or other lactose-containing formulas that has_material_basis_in homozygous or compound heterozygous mutation in LCT on chromosome 2q21.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111646",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "name": "CLD",
            "description": ""
        },
        {
            "id": "DOID:0111646",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "name": "congenital alactasia",
            "description": ""
        },
        {
            "id": "DOID:0111646",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "name": "congenital alactasia syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111646",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "name": "congenital lactose intolerance",
            "description": ""
        },
        {
            "id": "DOID:0111646",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "name": "congenital lactose malabsorption",
            "description": ""
        },
        {
            "id": "DOID:0111646",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "name": "disaccharide intolerance II",
            "description": ""
        },
        {
            "id": "MONDO:0009115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009115",
            "name": "congenital lactase deficiency",
            "description": "Congenital lactase deficiency is a rare severe gastrointestinal disorder in newborns primarily reported in Finland and characterized clinically by watery diarrhea on feeding with breast-milk or lactose-containing formula."
        },
        {
            "id": "MONDO:0009115",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009115",
            "name": "congenital lactase deficiency",
            "description": ""
        },
        {
            "id": "MIM:223000",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/223000",
            "name": "Congenital lactase deficiency",
            "description": "Congenital lactase deficiency"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111646"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111646",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111646",
            "categories": []
        },
        {
            "id": "MONDO:0009115",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009115",
            "categories": []
        },
        {
            "id": "MIM:223000",
            "database": "MIM",
            "url": "https://www.omim.org/entry/223000",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "F8VPT3-1",
            "uniprot_ac": "F8VPT3",
            "uniprot_id": "F8VPT3_MOUSE",
            "refseq_ac": "NP_001074547",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lactase/phlorizin hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.108",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.62",
                    "type": "synonym"
                },
                {
                    "name": "Lactase/glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lactase-phlorizin hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lactase/phlorizin hydrolase preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lct",
                    "type": "recommended"
                },
                {
                    "name": "Gm100",
                    "type": "synonym"
                },
                {
                    "name": "LAC",
                    "type": "synonym"
                },
                {
                    "name": "LPH",
                    "type": "synonym"
                },
                {
                    "name": "Lct",
                    "type": "synonym"
                },
                {
                    "name": "Lphl",
                    "type": "synonym"
                }
            ],
            "record_id": "F8VPT3-1",
            "evidence": [
                {
                    "id": "0111646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P09848-1",
            "uniprot_ac": "P09848",
            "uniprot_id": "LPH_HUMAN",
            "refseq_ac": "NP_002290",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Lactase/phlorizin hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "Lactase/glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Phlorizin hydrolase",
                    "type": "synonym"
                },
                {
                    "name": "lactase-glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "lactase-phlorizin hydrolase-1",
                    "type": "synonym"
                },
                {
                    "name": "lactase/phlorizin hydrolase preproprotein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "LCT",
                    "type": "recommended"
                },
                {
                    "name": "LAC",
                    "type": "synonym"
                },
                {
                    "name": "LCT",
                    "type": "synonym"
                },
                {
                    "name": "LPH1",
                    "type": "synonym"
                },
                {
                    "name": "LPH",
                    "type": "synonym"
                }
            ],
            "record_id": "P09848-1",
            "evidence": [
                {
                    "id": "223000",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/223000"
                },
                {
                    "id": "0111646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q02401-1",
            "uniprot_ac": "Q02401",
            "uniprot_id": "LPH_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": "Lactase/phlorizin hydrolase",
                    "type": "recommended"
                },
                {
                    "name": "Lactase/glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Phlorizin hydrolase",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Lct",
                    "type": "recommended"
                },
                {
                    "name": "Lph",
                    "type": "synonym"
                }
            ],
            "record_id": "Q02401-1",
            "evidence": [
                {
                    "id": "0111646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111646"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VV98-1",
            "uniprot_ac": "Q9VV98",
            "uniprot_id": "Q9VV98_DROME",
            "refseq_ac": "NP_648918",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Cytosolic beta-glucosidase",
                    "type": "recommended"
                },
                {
                    "name": "3.2.1.21",
                    "type": "synonym"
                },
                {
                    "name": "3.2.1.46",
                    "type": "synonym"
                },
                {
                    "name": "CG9701-PA",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic galactosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic glucosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "Cytosolic glycosylceramidase",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Dmel\\CG9701",
                    "type": "recommended"
                },
                {
                    "name": "CG9701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG9701",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG9701",
                    "type": "synonym"
                },
                {
                    "name": "klotho",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VV98-1",
            "evidence": [
                {
                    "id": "0111646",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111646"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111646"
}