{
    "disease_id": "DOID:0080453",
    "recommended_name": {
        "id": "DOID:0080453",
        "resource": "Disease Ontology",
        "url": "https://disease-ontology.org/term/DOID:0080453",
        "name": "developmental and epileptic encephalopathy 25",
        "description": "A developmental and epileptic encephalopathy characterized by onset in early infancy of refractory seizures, global developmental delay with intellectual disability, persistent neurologic symptoms, and dental anomalies that has_material_basis_in homozygous or compound heterozygous mutation in the SLC13A5 gene on chromosome 17p13."
    },
    "synonyms": [
        {
            "id": "DOID:0080453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080453",
            "name": "developmental and epileptic encephalopathy 25, with amelogenesis imperfecta",
            "description": ""
        },
        {
            "id": "DOID:0080453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080453",
            "name": "DEE25",
            "description": ""
        },
        {
            "id": "DOID:0080453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080453",
            "name": "early infantile epileptic encephalopathy 25",
            "description": ""
        },
        {
            "id": "DOID:0080453",
            "resource": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080453",
            "name": "SLC13A5 citrate transporter disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "developmental and epileptic encephalopathy, 25",
            "description": "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene."
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "DEE25",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "EIEE25",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "SLC13A5 Citrate Transporter Disorder",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "SLC13A5 early infantile epileptic encephalopathy",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "developmental and epileptic encephalopathy, 25",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "early infantile epileptic encephalopathy 25",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "early infantile epileptic encephalopathy caused by mutation in SLC13A5",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "epileptic encephalopathy, early infantile, 25",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "epileptic encephalopathy, early infantile, type 25",
            "description": ""
        },
        {
            "id": "MONDO:0014392",
            "resource": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "name": "SLC13A5 deficiency",
            "description": ""
        },
        {
            "id": "MIM:615905",
            "resource": "MIM",
            "url": "https://www.omim.org/entry/615905",
            "name": "Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta",
            "description": "Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta"
        }
    ],
    "children": [],
    "id_list": [
        "DOID:0080453"
    ],
    "unlinked_id_list": [],
    "crossref": [
        {
            "id": "DOID:0080453",
            "database": "Disease Ontology",
            "url": "https://disease-ontology.org/term/DOID:0080453",
            "categories": []
        },
        {
            "id": "MONDO:0014392",
            "database": "MONDO",
            "url": "https://monarchinitiative.org/disease/MONDO:0014392",
            "categories": []
        },
        {
            "id": "MIM:615905",
            "database": "MIM",
            "url": "https://www.omim.org/entry/615905",
            "categories": []
        }
    ],
    "proteins": [
        {
            "uniprot_canonical_ac": "A0ACD6B734-1",
            "uniprot_ac": "A0ACD6B734",
            "uniprot_id": "A0ACD6B734_DANRE",
            "refseq_ac": "XP_001345110",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/citrate cotransporter isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc13a5b",
                    "type": "recommended"
                },
                {
                    "name": "slc13a5b",
                    "type": "synonym"
                }
            ],
            "record_id": "A0ACD6B734-1",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "A0A2R8QQN0-1",
            "uniprot_ac": "A0A2R8QQN0",
            "uniprot_id": "A0A2R8QQN0_DANRE",
            "refseq_ac": "XP_005161489",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Danio rerio",
                    "taxid": 7955,
                    "common_name": "Zebrafish",
                    "glygen_name": "Zebrafish",
                    "reference_species": "Danio rerio [7955]"
                }
            ],
            "protein_names": [
                {
                    "name": "Solute carrier family 13 member 5a isoform X1",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 member 5a isoform X1",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "slc13a5a",
                    "type": "recommended"
                },
                {
                    "name": "fd44c11",
                    "type": "synonym"
                },
                {
                    "name": "im:7245905",
                    "type": "synonym"
                },
                {
                    "name": "si:ch211-221p4.4",
                    "type": "synonym"
                },
                {
                    "name": "slc13a5a",
                    "type": "synonym"
                },
                {
                    "name": "slc13a5",
                    "type": "synonym"
                },
                {
                    "name": "wu:fd44c11",
                    "type": "synonym"
                }
            ],
            "record_id": "A0A2R8QQN0-1",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "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": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q86YT5-1",
            "uniprot_ac": "Q86YT5",
            "uniprot_id": "S13A5_HUMAN",
            "refseq_ac": "NP_001137310",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Homo sapiens",
                    "taxid": 9606,
                    "common_name": "Human",
                    "glygen_name": "Human",
                    "reference_species": "Homo sapiens [9606]"
                }
            ],
            "protein_names": [
                {
                    "name": "Na(+)/citrate cotransporter",
                    "type": "recommended"
                },
                {
                    "name": "Na(+)/citrate cotransporter isoform b",
                    "type": "synonym"
                },
                {
                    "name": "Na(+)/citrate cotransporter",
                    "type": "synonym"
                },
                {
                    "name": "Na+-coupled citrate transporter protein",
                    "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": "mammalian INDY homolog",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent dicarboxylate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 (sodium-dependent citrate transporter), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "SLC13A5",
                    "type": "recommended"
                },
                {
                    "name": "DEE25",
                    "type": "synonym"
                },
                {
                    "name": "EIEE25",
                    "type": "synonym"
                },
                {
                    "name": "INDY",
                    "type": "synonym"
                },
                {
                    "name": "NACT",
                    "type": "synonym"
                },
                {
                    "name": "SLC13A5",
                    "type": "synonym"
                },
                {
                    "name": "mIndy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q86YT5-1",
            "evidence": [
                {
                    "id": "615905",
                    "database": "MIM",
                    "url": "https://www.omim.org/entry/615905"
                },
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P39535-1",
            "uniprot_ac": "P39535",
            "uniprot_id": "PHO90_YEAST",
            "refseq_ac": "NP_012337",
            "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": "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",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P25360-1",
            "uniprot_ac": "P25360",
            "uniprot_id": "PHO87_YEAST",
            "refseq_ac": "NP_009966",
            "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": "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",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "P27514-1",
            "uniprot_ac": "P27514",
            "uniprot_id": "PHO91_YEAST",
            "refseq_ac": "NP_014410",
            "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": "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",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "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",
                    "type": "recommended"
                },
                {
                    "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": "sodium-coupled citrate transporter",
                    "type": "synonym"
                },
                {
                    "name": "sodium-dependent citrate transporter",
                    "type": "synonym"
                },
                {
                    "name": "solute carrier family 13 (sodium-dependent citrate transporter), member 5",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Slc13a5",
                    "type": "recommended"
                },
                {
                    "name": "Nact",
                    "type": "synonym"
                },
                {
                    "name": "Slc13a5",
                    "type": "synonym"
                }
            ],
            "record_id": "Q8CJ44-1",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VVT2-1",
            "uniprot_ac": "Q9VVT2",
            "uniprot_id": "INDY1_DROME",
            "refseq_ac": "NP_001163465",
            "glycoprotein": "yes",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein I'm not dead yet",
                    "type": "recommended"
                },
                {
                    "name": "CG3979-PD",
                    "type": "synonym"
                },
                {
                    "name": "I am not dead yet",
                    "type": "synonym"
                },
                {
                    "name": "I'm Not dead Yet",
                    "type": "synonym"
                },
                {
                    "name": "I'm not dead yet, isoform D",
                    "type": "synonym"
                },
                {
                    "name": "INDY transporter protein",
                    "type": "synonym"
                },
                {
                    "name": "Indy-PD",
                    "type": "synonym"
                },
                {
                    "name": "anon-fast-evolving-3A7",
                    "type": "synonym"
                },
                {
                    "name": "drIndy",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "Indy",
                    "type": "recommended"
                },
                {
                    "name": "BEST:LP01220",
                    "type": "synonym"
                },
                {
                    "name": "CG3979",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG3979",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG3979",
                    "type": "synonym"
                },
                {
                    "name": "INDY",
                    "type": "synonym"
                },
                {
                    "name": "Indy",
                    "type": "synonym"
                },
                {
                    "name": "anon-EST:fe3A7",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0172774.70",
                    "type": "synonym"
                },
                {
                    "name": "drIndy",
                    "type": "synonym"
                },
                {
                    "name": "indy",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VVT2-1",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "E1JIQ7-1",
            "uniprot_ac": "E1JIQ7",
            "uniprot_id": "E1JIQ7_DROME",
            "refseq_ac": "NP_001163660",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein I'm not dead yet 2",
                    "type": "recommended"
                },
                {
                    "name": "CG33934-PE",
                    "type": "synonym"
                },
                {
                    "name": "uncharacterized protein, isoform E",
                    "type": "synonym"
                }
            ],
            "gene_names": [
                {
                    "name": "CG32921-ORFB",
                    "type": "recommended"
                },
                {
                    "name": "anon-WO0140519.217",
                    "type": "recommended"
                },
                {
                    "name": "CG32921-ORFB",
                    "type": "synonym"
                },
                {
                    "name": "CG32921",
                    "type": "synonym"
                },
                {
                    "name": "CG33934",
                    "type": "synonym"
                },
                {
                    "name": "CG4961",
                    "type": "synonym"
                },
                {
                    "name": "Dmel\\CG33934",
                    "type": "synonym"
                },
                {
                    "name": "Dmel_CG33934",
                    "type": "synonym"
                },
                {
                    "name": "anon-WO0140519.217",
                    "type": "synonym"
                }
            ],
            "record_id": "E1JIQ7-1",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        },
        {
            "uniprot_canonical_ac": "Q9VDQ0-1",
            "uniprot_ac": "Q9VDQ0",
            "uniprot_id": "INDY2_DROME",
            "refseq_ac": "",
            "glycoprotein": "no",
            "species": [
                {
                    "name": "Drosophila melanogaster",
                    "taxid": 7227,
                    "common_name": "Fruit fly",
                    "glygen_name": "Fruit fly",
                    "reference_species": "Drosophila melanogaster [7227]"
                }
            ],
            "protein_names": [
                {
                    "name": "Protein I'm not dead yet 2",
                    "type": "recommended"
                }
            ],
            "gene_names": [
                {
                    "name": "Indy2",
                    "type": "recommended"
                },
                {
                    "name": "CG33933",
                    "type": "synonym"
                }
            ],
            "record_id": "Q9VDQ0-1",
            "evidence": [
                {
                    "id": "0080453",
                    "database": "AGR",
                    "url": "https://www.alliancegenome.org/disease/DOID:0080453"
                }
            ]
        }
    ],
    "glycans": [],
    "biomarkers": [],
    "association_flag": "1000",
    "record_id": "doid.0080453"
}