{
    "disease_id": "DOID:0111668",
    "recommended_name": {
        "id": "DOID:0111668",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0111668",
        "name": "Kohlschutter-Tonz syndrome",
        "description": "A syndrome characterized by severe global developmental delay, early-onset intractable seizures, spasticity, and amelogenesis imperfecta that has_material_basis_in homozygous or compound heterozygous mutation in ROGDI on chromosome 16p13.3."
    },
    "synonyms": [
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "KTZS",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "Kohlschutter's syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "amelocerebrohypohidrotic syndrome",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "epilepsy and yellow teeth",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "epilepsy dementia amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "DOID:0111668",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "name": "epilepsy-dementia-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "amelocerebrohypohidrotic syndrome",
            "description": "Kohlschtter-TC6nz syndrome (KTS) is a genetically heterogeneous autosomal recessive syndrome characterized by the triad of amelogenesis imperfect, infantile onset epilepsy, intellectual disability with or without regression and dementia."
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "Kohlschutter-Tonz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "amelocerebrohypohidrotic syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "epilepsy-dementia-amelogenesis imperfecta syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "KOHLSCHUTTER-Tonz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "KTZS",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "Kohlschutter Tonz syndrome",
            "description": ""
        },
        {
            "id": "MONDO:0009185",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "name": "epilepsy dementia amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "MIM:226750",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/226750",
            "name": "Kohlschuetter-Toenz syndrome",
            "description": "Kohlschuetter-Toenz syndrome"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0111668"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0111668",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0111668",
            "categories": []
        },
        {
            "id": "MONDO:0009185",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0009185",
            "categories": []
        },
        {
            "id": "MIM:226750",
            "database": "MIM",
            "url": "https://www.omim.org/entry/226750",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "Q7ZVT5-1",
            "uniprot_ac": "Q7ZVT5",
            "uniprot_id": "ROGDI_DANRE",
            "refseq_ac": "NP_956257",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein rogdi homolog",
                    "type": "recommended"
                },
                {
                    "name": "protein rogdi homolog",
                    "type": "synonym"
                },
                {
                    "name": "rogdi homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "rogdi",
                    "type": "recommended"
                },
                {
                    "name": "fj32e07",
                    "type": "synonym"
                },
                {
                    "name": "rogdi",
                    "type": "synonym"
                },
                {
                    "name": "wu:fj32e07",
                    "type": "synonym"
                },
                {
                    "name": "zgc:55665",
                    "type": "synonym"
                }
            ],
            "record_id": "Q7ZVT5-1",
            "evidence": [
                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q3TDK6-1",
            "uniprot_ac": "Q3TDK6",
            "uniprot_id": "ROGDI_MOUSE",
            "refseq_ac": "NP_573448",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein rogdi homolog",
                    "type": "recommended"
                },
                {
                    "name": "Leucine-zipper-containing LZF",
                    "type": "synonym"
                },
                {
                    "name": "leucine zipper domain protein",
                    "type": "synonym"
                },
                {
                    "name": "leucine-zipper-containing LZF",
                    "type": "synonym"
                },
                {
                    "name": "protein rogdi homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rogdi",
                    "type": "recommended"
                },
                {
                    "name": "0610011C19Rik",
                    "type": "synonym"
                },
                {
                    "name": "Lzf",
                    "type": "synonym"
                },
                {
                    "name": "Rogdi",
                    "type": "synonym"
                }
            ],
            "record_id": "Q3TDK6-1",
            "evidence": [
                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q67BT3-1",
            "uniprot_ac": "Q67BT3",
            "uniprot_id": "S13A5_MOUSE",
            "refseq_ac": "NP_001004148",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/citrate cotransporter",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/citrate cotransporter isoform 1",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/citrate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "NaCT",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-coupled citrate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Sodium-dependent citrate transporter",
                    "type": "synonym"
                },
                {
                    "name": "Solute carrier family 13 member 5",
                    "type": "synonym"
                },
                {
                    "name": "novel solute carrier family 13 (sodium-dependent dicarboxylate transporter) (Slc13a2 or 3) member",
                    "type": "synonym"
                },
                {
                    "name": "sodium-coupled citrate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent citrate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc13a5",
                    "type": "recommended"
                },
                {
                    "name": "Indy",
                    "type": "synonym"
                },
                {
                    "name": "NaC2/NaCT",
                    "type": "synonym"
                },
                {
                    "name": "Nact",
                    "type": "synonym"
                },
                {
                    "name": "Slc13a5",
                    "type": "synonym"
                },
                {
                    "name": "mINDY",
                    "type": "synonym"
                }
            ],
            "record_id": "Q67BT3-1",
            "evidence": [
                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9ES88-1",
            "uniprot_ac": "Q9ES88",
            "uniprot_id": "S13A2_MOUSE",
            "refseq_ac": "NP_071856",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Mus musculus",
                    "taxid": 10090,
                    "common_name": "Mouse",
                    "glygen_name": "Mouse",
                    "reference_species": "Mus musculus [10090]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 13 member 2",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/dicarboxylate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "NaDC-1",
                    "type": "synonym"
                },
                {
                    "name": "Renal sodium/dicarboxylate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "renal sodium/dicarboxylate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium/dicarboxylate co-transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc13a2",
                    "type": "recommended"
                },
                {
                    "name": "Nadc-1",
                    "type": "synonym"
                },
                {
                    "name": "Nadc1",
                    "type": "synonym"
                },
                {
                    "name": "Sdct1",
                    "type": "synonym"
                },
                {
                    "name": "Slc13a2",
                    "type": "synonym"
                },
                {
                    "name": "mNaDC-1",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9ES88-1",
            "evidence": [
                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9GZN7-1",
            "uniprot_ac": "Q9GZN7",
            "uniprot_id": "ROGDI_HUMAN",
            "refseq_ac": "NP_078865",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein rogdi homolog",
                    "type": "recommended"
                },
                {
                    "name": "leucine zipper domain protein",
                    "type": "synonym"
                },
                {
                    "name": "protein rogdi homolog",
                    "type": "synonym"
                },
                {
                    "name": "rogdi homolog",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "ROGDI",
                    "type": "recommended"
                },
                {
                    "name": "KTZS",
                    "type": "synonym"
                },
                {
                    "name": "RAV2",
                    "type": "synonym"
                },
                {
                    "name": "ROGD1",
                    "type": "synonym"
                },
                {
                    "name": "ROGDI",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9GZN7-1",
            "evidence": [
                {
                    "id": "226750",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/226750"
                },
                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q03956-1",
            "uniprot_ac": "Q03956",
            "uniprot_id": "RAV2_YEAST",
            "refseq_ac": "NP_010488",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Regulator of V-ATPase in vacuolar membrane protein 2",
                    "type": "recommended"
                },
                {
                    "name": "Rav2p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "RAV2",
                    "type": "recommended"
                },
                {
                    "name": "RAV2",
                    "type": "synonym"
                },
                {
                    "name": "YD9346.12C",
                    "type": "synonym"
                }
            ],
            "record_id": "Q03956-1",
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                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25360-1",
            "uniprot_ac": "P25360",
            "uniprot_id": "PHO87_YEAST",
            "refseq_ac": "NP_009966",
            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Inorganic phosphate transporter PHO87",
                    "type": "recommended"
                },
                {
                    "name": "SPX domain-containing inorganic phosphate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHO87",
                    "type": "recommended"
                },
                {
                    "name": "PHO87",
                    "type": "synonym"
                },
                {
                    "name": "YCR37C",
                    "type": "synonym"
                },
                {
                    "name": "YCR524",
                    "type": "synonym"
                }
            ],
            "record_id": "P25360-1",
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                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27514-1",
            "uniprot_ac": "P27514",
            "uniprot_id": "PHO91_YEAST",
            "refseq_ac": "NP_014410",
            "glycoprotein": "yes",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-affinity phosphate transporter PHO91",
                    "type": "recommended"
                },
                {
                    "name": "Pho91p",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHO91",
                    "type": "recommended"
                },
                {
                    "name": "N2052",
                    "type": "synonym"
                },
                {
                    "name": "PHO91",
                    "type": "synonym"
                }
            ],
            "record_id": "P27514-1",
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                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
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        {
            "uniprot_canonical_ac": "P39535-1",
            "uniprot_ac": "P39535",
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                {
                    "name": "Saccharomyces cerevisiae S288C",
                    "taxid": 559292,
                    "common_name": "Baker's yeast",
                    "glygen_name": "Yeast",
                    "reference_species": "Saccharomyces cerevisiae S288C [559292]"
                }
            ],
            "protein_names": [
                {
                    "name": "Low-affinity phosphate transporter PHO90",
                    "type": "recommended"
                },
                {
                    "name": "SPX domain-containing inorganic phosphate transporter",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "PHO90",
                    "type": "recommended"
                },
                {
                    "name": "J0336",
                    "type": "synonym"
                },
                {
                    "name": "PHO90",
                    "type": "synonym"
                }
            ],
            "record_id": "P39535-1",
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                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q4V7D2-1",
            "uniprot_ac": "Q4V7D2",
            "uniprot_id": "ROGDI_RAT",
            "refseq_ac": "NP_001020035",
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            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein rogdi homolog",
                    "type": "recommended"
                },
                {
                    "name": "leucine zipper domain protein",
                    "type": "synonym"
                },
                {
                    "name": "protein rogdi homolog",
                    "type": "synonym"
                },
                {
                    "name": "rogdi homolog",
                    "type": "synonym"
                },
                {
                    "name": "rogdi-like protein",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Rogdi",
                    "type": "recommended"
                },
                {
                    "name": "Rogdi",
                    "type": "synonym"
                }
            ],
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                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P70545-1",
            "uniprot_ac": "P70545",
            "uniprot_id": "S13A2_RAT",
            "refseq_ac": "NP_113934",
            "glycoprotein": "yes",
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                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 13 member 2",
                    "type": "recommended"
                },
                {
                    "name": "Intestinal sodium/dicarboxylate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/dicarboxylate cotransporter 1",
                    "type": "synonym"
                },
                {
                    "name": "NaDC-1",
                    "type": "synonym"
                },
                {
                    "name": "intestinal sodium/dicarboxylate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "naDC-1",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dicarboxylate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 (sodium-dependent dicarboxylate transporter), member 2",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 member 2",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc13a2",
                    "type": "recommended"
                },
                {
                    "name": "Nadc1",
                    "type": "synonym"
                },
                {
                    "name": "Sdct1",
                    "type": "synonym"
                },
                {
                    "name": "Slc13a2",
                    "type": "synonym"
                },
                {
                    "name": "mucin",
                    "type": "synonym"
                }
            ],
            "record_id": "P70545-1",
            "evidence": [
                {
                    "id": "0111668",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q8CJ44-1",
            "uniprot_ac": "Q8CJ44",
            "uniprot_id": "S13A5_RAT",
            "refseq_ac": "NP_733768",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Rattus norvegicus",
                    "taxid": 10116,
                    "common_name": "Rat",
                    "glygen_name": "Rat",
                    "reference_species": "Rattus norvegicus [10116]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/citrate cotransporter",
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                {
                    "name": "Na(+)/citrate cotransporter",
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                {
                    "name": "NaCT",
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                {
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                {
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                {
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            ],
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            ],
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                    "name": "Protein rogdi",
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                {
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            ],
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                {
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                {
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                {
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                {
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                    "name": "SUT1",
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            ],
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                {
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                {
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                {
                    "name": "Sodium-dependent high-affinity dicarboxylate transporter 2",
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                {
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                {
                    "name": "hNaDC3",
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                {
                    "name": "naDC-3",
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                {
                    "name": "sodium-dependent high affinity dicarboxylate transporter 3",
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            ],
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                    "name": "SLC13A3",
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                    "name": "ARLIAK",
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                {
                    "name": "NADC3",
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                {
                    "name": "NaC3",
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                {
                    "name": "SDCT2",
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                {
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            ],
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                    "id": "0111668",
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                    "url": "https://www.alliancegenome.org/disease/DOID:0111668"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0111668"
}