{
    "disease_id": "DOID:0070353",
    "recommended_name": {
        "id": "DOID:0070353",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0070353",
        "name": "cataract 47",
        "description": "A cataract that has_material_basis_in heterozygous mutation in the SLC16A12 gene on chromosome 10q23, characterized by progressive juvenile cataract with microcornea."
    },
    "synonyms": [
        {
            "id": "DOID:0070353",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070353",
            "name": "CTRCT47",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "juvenile cataract-microcornea-renal glucosuria syndrome",
            "description": "Juvenile cataract - microcornea - renal glucosuria is an extremely rare autosomal dominant association reported in a single Swiss family and characterized clinically by juvenile cataract associated with bilateral microcornea, and renal glucosuria without other renal tubular defects."
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "cataract 47, juvenile, with microcornea",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "juvenile cataract-microcornea-renal glucosuria syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "CJMG",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "CTRCT47",
            "description": ""
        },
        {
            "id": "MONDO:0012786",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "name": "cataract, juvenile, with microcornea and glucosuria",
            "description": ""
        },
        {
            "id": "MIM:612018",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/612018",
            "name": "Cataract 47",
            "description": "Cataract 47"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0070353"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0070353",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0070353",
            "categories": []
        },
        {
            "id": "MONDO:0012786",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0012786",
            "categories": []
        },
        {
            "id": "MIM:612018",
            "database": "MIM",
            "url": "https://www.omim.org/entry/612018",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q503M4-1",
            "uniprot_ac": "Q503M4",
            "uniprot_id": "MT12B_DANRE",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 12-B",
                    "type": "recommended"
                },
                {
                    "name": "MCT 12-B",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 12-B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc16a12b",
                    "type": "recommended"
                },
                {
                    "name": "im:7140871",
                    "type": "synonym"
                },
                {
                    "name": "slc16a12",
                    "type": "synonym"
                },
                {
                    "name": "wu:fc44b08",
                    "type": "synonym"
                },
                {
                    "name": "zgc:110441",
                    "type": "synonym"
                }
            ],
            "record_id": "Q503M4-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8BGC3-1",
            "uniprot_ac": "Q8BGC3",
            "uniprot_id": "MOT12_MOUSE",
            "refseq_ac": "NP_766426",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 12",
                    "type": "recommended"
                },
                {
                    "name": "MCT 12",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 12",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc16a12",
                    "type": "recommended"
                },
                {
                    "name": "3230401A21",
                    "type": "synonym"
                },
                {
                    "name": "MCT 12",
                    "type": "synonym"
                },
                {
                    "name": "Mct12",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8BGC3-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q6ZSM3-1",
            "uniprot_ac": "Q6ZSM3",
            "uniprot_id": "MOT12_HUMAN",
            "refseq_ac": "NP_998771",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 12",
                    "type": "recommended"
                },
                {
                    "name": "CRT2",
                    "type": "synonym"
                },
                {
                    "name": "Creatine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "MCT 12",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 12",
                    "type": "synonym"
                },
                {
                    "name": "creatine transporter 2",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 12",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylic acid transporter 12",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC16A12",
                    "type": "recommended"
                },
                {
                    "name": "CJMG",
                    "type": "synonym"
                },
                {
                    "name": "CRT2",
                    "type": "synonym"
                },
                {
                    "name": "CTRCT47",
                    "type": "synonym"
                },
                {
                    "name": "MCT12",
                    "type": "synonym"
                },
                {
                    "name": "SLC16A12",
                    "type": "synonym"
                }
            ],
            "record_id": "Q6ZSM3-1",
            "evidence": [
                {
                    "id": "612018",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/612018"
                },
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P53918-1",
            "uniprot_ac": "P53918",
            "uniprot_id": "ESBP6_YEAST",
            "refseq_ac": "NP_014274",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Uncharacterized transporter ESBP6",
                    "type": "recommended"
                },
                {
                    "name": "Esbp6p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ESBP6",
                    "type": "recommended"
                },
                {
                    "name": "ESBP6",
                    "type": "synonym"
                },
                {
                    "name": "MCH3",
                    "type": "synonym"
                },
                {
                    "name": "N1223",
                    "type": "synonym"
                },
                {
                    "name": "N1882",
                    "type": "synonym"
                }
            ],
            "record_id": "P53918-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08777-1",
            "uniprot_ac": "Q08777",
            "uniprot_id": "MCH5_YEAST",
            "refseq_ac": "NP_014951",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Riboflavin transporter MCH5",
                    "type": "recommended"
                },
                {
                    "name": "riboflavin transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCH5",
                    "type": "recommended"
                },
                {
                    "name": "MCH5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08777-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q08268-1",
            "uniprot_ac": "Q08268",
            "uniprot_id": "MCH4_YEAST",
            "refseq_ac": "NP_014522",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable transporter MCH4",
                    "type": "recommended"
                },
                {
                    "name": "Mch4p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCH4",
                    "type": "recommended"
                },
                {
                    "name": "MCH4",
                    "type": "synonym"
                }
            ],
            "record_id": "Q08268-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P36032-1",
            "uniprot_ac": "P36032",
            "uniprot_id": "MCH2_YEAST",
            "refseq_ac": "NP_012701",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Probable transporter MCH2",
                    "type": "recommended"
                },
                {
                    "name": "Mch2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "MCH2",
                    "type": "recommended"
                },
                {
                    "name": "MCH2",
                    "type": "synonym"
                }
            ],
            "record_id": "P36032-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "D4A734-1",
            "uniprot_ac": "D4A734",
            "uniprot_id": "MOT12_RAT",
            "refseq_ac": "NP_001178566",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Monocarboxylate transporter 12",
                    "type": "recommended"
                },
                {
                    "name": "MCT 12",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 16 member 12",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 12",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16 (monocarboxylic acid transporters), member 12",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 16, member 12 (monocarboxylic acid transporter 12)",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc16a12",
                    "type": "recommended"
                },
                {
                    "name": "MCT 12",
                    "type": "synonym"
                },
                {
                    "name": "Mct12",
                    "type": "synonym"
                },
                {
                    "name": "RGD1311468",
                    "type": "synonym"
                },
                {
                    "name": "Slc16a12",
                    "type": "synonym"
                }
            ],
            "record_id": "D4A734-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9W509-1",
            "uniprot_ac": "Q9W509",
            "uniprot_id": "Q9W509_DROME",
            "refseq_ac": "NP_001284810",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "CG3456-PB",
                    "type": "synonym"
                },
                {
                    "name": "Mct1-PB",
                    "type": "synonym"
                },
                {
                    "name": "Monocarboxylate transporter 1, isoform A",
                    "type": "synonym"
                },
                {
                    "name": "Monocarboxylate transporter 1, isoform B",
                    "type": "synonym"
                },
                {
                    "name": "monocarboxylate transporter 1, isoform B",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Mct1",
                    "type": "recommended"
                },
                {
                    "name": "CG3456",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3456",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3456",
                    "type": "synonym"
                },
                {
                    "name": "EG:103B4.3",
                    "type": "synonym"
                },
                {
                    "name": "MCT1",
                    "type": "synonym"
                },
                {
                    "name": "Mct1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9W509-1",
            "evidence": [
                {
                    "id": "0070353",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0070353"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0070353"
}