{
    "disease_id": "DOID:0050718",
    "recommended_name": {
        "id": "DOID:0050718",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0050718",
        "name": "vitamin metabolic disorder",
        "description": "An inherited metabolic disorder resulting from a deficiency in vitamin or vitamin cofactor transport or metabolism."
    },
    "synonyms": [],
    "children": [
        {
            "id": "DOID:0050719",
            "label": "cerebral folate receptor alpha deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0050731",
            "label": "vitamin B12 deficiency",
            "link_status": true,
            "children": [
                {
                    "id": "DOID:0050734",
                    "label": "congenital intrinsic factor deficiency",
                    "link_status": true,
                    "children": []
                },
                {
                    "id": "DOID:0050818",
                    "label": "transcobalamin II deficiency",
                    "link_status": true,
                    "children": []
                }
            ]
        },
        {
            "id": "DOID:0061185",
            "label": "autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0070742",
            "label": "combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0090028",
            "label": "familial isolated deficiency of vitamin E",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111329",
            "label": "pyridoxamine 5'-phosphate oxidase deficiency",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111678",
            "label": "hereditary folate malabsorption",
            "link_status": true,
            "children": []
        },
        {
            "id": "DOID:0111679",
            "label": "glutamate formiminotransferase deficiency",
            "link_status": true,
            "children": []
        }
    ],
    "id_list": [
        "DOID:0070742",
        "DOID:0061185",
        "DOID:0050718",
        "DOID:0111679",
        "DOID:0111678",
        "DOID:0111329",
        "DOID:0050734",
        "DOID:0050731",
        "DOID:0090028",
        "DOID:0050818",
        "DOID:0050719"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0050718",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0050718",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0A8M1N6Y6-1",
            "uniprot_ac": "A0A8M1N6Y6",
            "uniprot_id": "A0A8M1N6Y6_DANRE",
            "refseq_ac": "NP_001020700",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent multivitamin transporter",
                    "type": "recommended"
                },
                {
                    "name": "Solute carrier family 5 member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6a",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 member 6a",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc5a6a",
                    "type": "recommended"
                },
                {
                    "name": "SLC5A6",
                    "type": "synonym"
                },
                {
                    "name": "si:dkey-5g7.3",
                    "type": "synonym"
                },
                {
                    "name": "slc5a6a",
                    "type": "synonym"
                },
                {
                    "name": "zgc:114092",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A8M1N6Y6-1",
            "evidence": [
                {
                    "id": "0050718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BYF6-1",
            "uniprot_ac": "Q8BYF6",
            "uniprot_id": "SC5A8_MOUSE",
            "refseq_ac": "NP_663398",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-coupled monocarboxylate transporter 1",
                    "type": "recommended"
                },
                {
                    "name": "Electrogenic sodium monocarboxylate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 8",
                    "type": "synonym"
                },
                {
                    "name": "electrogenic sodium monocarboxylate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled monocarboxylate transporter 1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 member 8",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a8",
                    "type": "recommended"
                },
                {
                    "name": "Ait",
                    "type": "synonym"
                },
                {
                    "name": "SMCT",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a8",
                    "type": "synonym"
                },
                {
                    "name": "Smct1",
                    "type": "synonym"
                },
                {
                    "name": "Smct",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BYF6-1",
            "evidence": [
                {
                    "id": "0050718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q5U4D8-1",
            "uniprot_ac": "Q5U4D8",
            "uniprot_id": "SC5A6_MOUSE",
            "refseq_ac": "NP_001171092",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent multivitamin transporter",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 6",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a6",
                    "type": "recommended"
                },
                {
                    "name": "E430023I20",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a6",
                    "type": "synonym"
                }
            ],
            "record_id": "Q5U4D8-1",
            "evidence": [
                {
                    "id": "0050718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "O70247-1",
            "uniprot_ac": "O70247",
            "uniprot_id": "SC5A6_RAT",
            "refseq_ac": "NP_570102",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent multivitamin transporter",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 6",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium-dependent vitamin transporter), member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc5a6",
                    "type": "recommended"
                },
                {
                    "name": "SMVT",
                    "type": "synonym"
                },
                {
                    "name": "Slc5a6",
                    "type": "synonym"
                },
                {
                    "name": "Smvt",
                    "type": "synonym"
                }
            ],
            "record_id": "O70247-1",
            "evidence": [
                {
                    "id": "0050718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050718"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9Y289-1",
            "uniprot_ac": "Q9Y289",
            "uniprot_id": "SC5A6_HUMAN",
            "refseq_ac": "NP_066918",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Sodium-dependent multivitamin transporter",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "Na+-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 5 member 6",
                    "type": "synonym"
                },
                {
                    "name": "hSMVT",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent multivitamin transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium-dependent vitamin transporter), member 6",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 5 (sodium/multivitamin and iodide cotransporter), member 6",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC5A6",
                    "type": "recommended"
                },
                {
                    "name": "COMNB",
                    "type": "synonym"
                },
                {
                    "name": "NERIB",
                    "type": "synonym"
                },
                {
                    "name": "SLC5A6",
                    "type": "synonym"
                },
                {
                    "name": "SMVTD",
                    "type": "synonym"
                },
                {
                    "name": "SMVT",
                    "type": "synonym"
                },
                {
                    "name": "hSMVT",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9Y289-1",
            "evidence": [
                {
                    "id": "0050718",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0050718"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0050718"
}