{ "disease_id": "DOID:0080425", "recommended_name": { "id": "DOID:0080425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080425", "name": "developmental and epileptic encephalopathy 47", "description": "A developmental and epileptic encephalopathy characterized by onset in the first days or weeks of life of intractable seizures, developmental regression after seizure onset, intellectual disability, and neurologic impairment that has_material_basis_in heterozygous mutation in the FGF12 gene on chromosome 3q28." }, "synonyms": [ { "id": "DOID:0080425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080425", "name": "DEE47", "description": "" }, { "id": "DOID:0080425", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0080425", "name": "early infantile epileptic encephalopathy 47", "description": "" }, { "id": "MONDO:0014949", "resource": "MONDO", "url": 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"https://monarchinitiative.org/disease/MONDO:0014949", "name": "early infantile epileptic encephalopathy caused by mutation in FGF12", "description": "" }, { "id": "MONDO:0014949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014949", "name": "epileptic encephalopathy, early infantile, 47", "description": "" }, { "id": "MONDO:0014949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014949", "name": "epileptic encephalopathy, early infantile, 47; EIEE47", "description": "" }, { "id": "MONDO:0014949", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0014949", "name": "epileptic encephalopathy, early infantile, type 47", "description": "" }, { "id": "MIM:617166", "resource": "MIM", "url": "https://www.omim.org/entry/617166", "name": "Developmental and epileptic encephalopathy 47", "description": "Developmental and epileptic encephalopathy 47" } ], "children": [], "id_list": [ "DOID:0080425" ], 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"name": "Heparin secretory-transforming protein 2", "type": "synonym" }, { "name": "Heparin-binding growth factor 6", "type": "synonym" }, { "name": "fibroblast growth factor 6 precursor", "type": "synonym" }, { "name": "fibroblast growth factor 7b", "type": "synonym" }, { "name": "heparin secretory-transforming protein 2", "type": "synonym" }, { "name": "heparin-binding growth factor 6", "type": "synonym" } ], "gene_names": [ { "name": "Fgf6", "type": "recommended" }, { "name": "Fgf-6", "type": "synonym" }, { "name": "Fgf6", "type": "synonym" }, { "name": "Fgf7b", "type": "synonym" }, { "name": "HSTF-2", "type": "synonym" }, { "name": "Hstf2", "type": "synonym" } ], "record_id": "P21658-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P70377-1", "uniprot_ac": "P70377", "uniprot_id": "FGF13_MOUSE", "refseq_ac": "NP_001277344", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor 13", "type": "recommended" }, { "name": "FGF-13", "type": "synonym" }, { "name": "FHF-2", "type": "synonym" }, { "name": "Fibroblast growth factor homologous factor 2", "type": "synonym" }, { "name": "fibroblast growth factor 13 isoform 3", "type": "synonym" }, { "name": "fibroblast growth factor 1c", "type": "synonym" }, { "name": "fibroblast growth factor homologous factor 2", "type": "synonym" } ], "gene_names": [ { "name": "Fgf13", "type": "recommended" }, { "name": "Fgf13", "type": "synonym" }, { "name": "Fgf1c", "type": "synonym" }, { "name": "Fhf2", "type": "synonym" } ], "record_id": "P70377-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P15656-1", "uniprot_ac": "P15656", "uniprot_id": "FGF5_MOUSE", 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"0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P70378-1", "uniprot_ac": "P70378", "uniprot_id": "FGF11_MOUSE", "refseq_ac": "NP_001278033", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor 11", "type": "recommended" }, { "name": "FGF-11", "type": "synonym" }, { "name": "FHF-3", "type": "synonym" }, { "name": "Fibroblast growth factor homologous factor 3", "type": "synonym" }, { "name": "fibroblast growth factor 11 isoform 2", "type": "synonym" }, { "name": "fibroblast growth factor 1d", "type": "synonym" }, { "name": "fibroblast growth factor homologous factor 3", "type": "synonym" } ], "gene_names": [ { "name": "Fgf11", "type": "recommended" }, { "name": "Fgf-11", "type": "synonym" }, { "name": "Fgf11", "type": "synonym" }, { 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"evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "Q9ESS2-1", "uniprot_ac": "Q9ESS2", "uniprot_id": "FGF22_MOUSE", "refseq_ac": "NP_075793", "glycoprotein": "no", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Fibroblast growth factor 22", "type": "recommended" }, { "name": "FGF-22", "type": "synonym" }, { "name": "fibroblast growth factor 22 isoform 1 precursor", "type": "synonym" }, { "name": "fibroblast growth factor 5d", "type": "synonym" } ], "gene_names": [ { "name": "Fgf22", "type": "recommended" }, { "name": "2210414E06Rik", "type": "synonym" }, { "name": "FGF-22", "type": "synonym" }, { "name": "Fgf22", "type": "synonym" }, { "name": "Fgf5d", "type": "synonym" } ], "record_id": "Q9ESS2-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": 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"common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fibroblast growth factor 10", "type": "recommended" }, { "name": "FGF-10", "type": "synonym" }, { "name": "fibroblast growth factor 10 precursor", "type": "synonym" }, { "name": "fibroblast growth factor 5a", "type": "synonym" } ], "gene_names": [ { "name": "Fgf10", "type": "recommended" }, { "name": "FGF-10", "type": "synonym" }, { "name": "Fgf10", "type": "synonym" }, { "name": "Fgf5a", "type": "synonym" } ], "record_id": "P70492-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "O54769-1", "uniprot_ac": "O54769", "uniprot_id": "FGF16_RAT", "refseq_ac": "NP_068639", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": 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"synonym" }, { "name": "fibroblast growth factor 5 isoform 1 precursor", "type": "synonym" }, { "name": "fibroblast growth factor FGF-5", "type": "synonym" }, { "name": "heparin-binding growth factor 5", "type": "synonym" } ], "gene_names": [ { "name": "Fgf5", "type": "recommended" }, { "name": "FGF-5", "type": "synonym" }, { "name": "Fgf-5", "type": "synonym" }, { "name": "Fgf3a", "type": "synonym" }, { "name": "Fgf5", "type": "synonym" }, { "name": "HBGF-5", "type": "synonym" } ], "record_id": "P48807-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "Q8R5L9-1", "uniprot_ac": "Q8R5L9", "uniprot_id": "Q8R5L9_RAT", "refseq_ac": "NP_570830", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fibroblast growth factor", "type": "recommended" }, { "name": "FGF", "type": "synonym" }, { "name": "fibroblast growth factor 3 precursor", "type": "synonym" }, { "name": "fibroblast growth factor 5c", "type": "synonym" }, { "name": "interacting gene 2", "type": "synonym" } ], "gene_names": [ { "name": "Fgf3", "type": "recommended" }, { "name": "Fgf3", "type": "synonym" }, { "name": "Fgf5c", "type": "synonym" }, { "name": "Int2", "type": "synonym" } ], "record_id": "Q8R5L9-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "A0ABK0L600-1", "uniprot_ac": "A0ABK0L600", "uniprot_id": "A0ABK0L600_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fibroblast growth factor", "type": "recommended" }, { "name": "FGF", "type": "synonym" } ], 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"0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "Q02195-1", "uniprot_ac": "Q02195", "uniprot_id": "FGF7_RAT", "refseq_ac": "NP_071518", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Fibroblast growth factor 7", "type": "recommended" }, { "name": "FGF-7", "type": "synonym" }, { "name": "HBGF-7", "type": "synonym" }, { "name": "Heparin-binding growth factor 7", "type": "synonym" }, { "name": "Keratinocyte Growth Factor Fgf-7", "type": "synonym" }, { "name": "Keratinocyte growth factor", "type": "synonym" }, { "name": "fibroblast growth factor 5b", "type": "synonym" }, { "name": "fibroblast growth factor 7 precursor", "type": "synonym" }, { "name": "heparin-binding growth factor 7", "type": "synonym" } ], "gene_names": [ { "name": "Fgf7", "type": "recommended" }, { "name": "Fgf-7", "type": "synonym" }, { "name": "Fgf5b", "type": "synonym" }, { "name": "Fgf7", "type": "synonym" }, { "name": "KGF/FGF7", "type": "synonym" }, { "name": "Kgf", "type": "synonym" } ], "record_id": "Q02195-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P55016-1", "uniprot_ac": "P55016", "uniprot_id": "S12A1_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Solute carrier family 12 member 1", "type": "recommended" }, { "name": "BSC1", "type": "synonym" }, { "name": "Bumetanide-sensitive sodium-(potassium)-chloride cotransporter 1", "type": "synonym" }, { "name": "Kidney-specific Na-K-Cl symporter", "type": "synonym" }, { "name": "NKCC2", "type": "synonym" }, { "name": "Na-K-2Cl cotransporter 2", "type": "synonym" } ], "gene_names": [ { "name": "Slc12a1", "type": "recommended" }, { "name": "Nkcc2", "type": "synonym" } ], "record_id": "P55016-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "Q06226-1", "uniprot_ac": "Q06226", "uniprot_id": "SGK1_RAT", "refseq_ac": "", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Serine/threonine-protein kinase Sgk1", "type": "recommended" }, { "name": "2.7.11.1", "type": "synonym" }, { "name": "Serum/glucocorticoid-regulated kinase 1", "type": "synonym" } ], "gene_names": [ { "name": "Sgk1", "type": "recommended" }, { "name": "Sgk", "type": "synonym" } ], "record_id": "Q06226-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P26435-1", "uniprot_ac": "P26435", "uniprot_id": "NTCP_RAT", "refseq_ac": "NP_058743", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Hepatic sodium/bile acid cotransporter", "type": "recommended" }, { "name": "NA-dependent cholate transporting protein", "type": "synonym" }, { "name": "NTCP", "type": "synonym" }, { "name": "Na(+)/bile acid cotransporter", "type": "synonym" }, { "name": "Na(+)/taurocholate transport protein", "type": "synonym" }, { "name": "SLC10A1", "type": "synonym" }, { "name": "Sodium/taurocholate cotransporting polypeptide", "type": "synonym" }, { "name": "Solute carrier family 10 member 1", "type": "synonym" }, { "name": "hepatic sodium/bile acid cotransporter", "type": "synonym" }, { "name": "sodium-dependent bile acid cotransporter", "type": "synonym" }, { "name": "sodium-dependent taurocholate cotransporting polypeptide", "type": "synonym" }, { "name": "sodium/bile acid cotransporter", "type": "synonym" }, { "name": "sodium/taurocholate cotransporting polypeptide", "type": "synonym" }, { "name": "solute carrier family 10 (sodium/bile acid cotransporter family), member 1", "type": "synonym" }, { "name": "solute carrier family 10 (sodium/bile acid cotransporter), member 1", "type": "synonym" } ], "gene_names": [ { "name": "Slc10a1", "type": "recommended" }, { "name": "Ntcp1", "type": "synonym" }, { "name": "Ntcp", "type": "synonym" }, { "name": "SBACT", "type": "synonym" }, { "name": "Slc10a1", "type": "synonym" } ], "record_id": "P26435-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "O55006-1", "uniprot_ac": "O55006", "uniprot_id": "ROB1_RAT", "refseq_ac": "NP_113725", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Protein RoBo-1", "type": "recommended" }, { "name": "Rodent bone protein", "type": "synonym" }, { "name": "divalent metal transporter-1", "type": "synonym" }, { "name": "protein RoBo-1 precursor", "type": "synonym" }, { "name": "protein RoBo-1", "type": "synonym" }, { "name": "rodent bone protein", "type": "synonym" } ], "gene_names": [ { "name": "Lypd8l1", "type": "recommended" }, { "name": "DMT-1", "type": "synonym" }, { "name": "Lypd8l1", "type": "synonym" } ], "record_id": "O55006-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "O54902-1", "uniprot_ac": "O54902", "uniprot_id": "NRAM2_RAT", "refseq_ac": "NP_037305", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Natural resistance-associated macrophage protein 2", "type": "recommended" }, { "name": "DMT-1", "type": "synonym" }, { "name": "Divalent cation transporter 1", "type": "synonym" }, { "name": "Divalent metal transporter 1", "type": "synonym" }, { "name": "NRAMP 2", "type": "synonym" }, { "name": "Solute carrier family 11 member 2 (natural resistance-associated macrophage protein 2)", "type": "synonym" }, { "name": "Solute carrier family 11 member 2", "type": "synonym" }, { "name": "divalent cation transporter 1", "type": "synonym" }, { "name": "divalent metal transporter 1", "type": "synonym" }, { "name": "natural resistance-associated macrophage protein 2 isoform 1", "type": "synonym" }, { "name": "natural resistance-associated macrophage protein 2", "type": "synonym" }, { "name": "solute carrier family 11 (proton-coupled divalent metal ion transporter), member 2", "type": "synonym" }, { "name": "solute carrier family 11 (proton-coupled divalent metal ion transporters), member 2", "type": "synonym" } ], "gene_names": [ { "name": "Slc11a2", "type": "recommended" }, { "name": "Dct1", "type": "synonym" }, { "name": "Dmt1", "type": "synonym" }, { "name": "Nramp2", "type": "synonym" }, { "name": "Slc11a2", "type": "synonym" } ], "record_id": "O54902-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "G3V7T2-1", "uniprot_ac": "G3V7T2", "uniprot_id": "G3V7T2_RAT", "refseq_ac": "NP_036945", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Alpha-N-acetylneuraminide alpha-2,8-sialyltransferase", "type": "recommended" }, { "name": "2.4.3.8", "type": "synonym" }, { "name": 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8-sialytransferase) A", "type": "synonym" } ], "gene_names": [ { "name": "St8sia1", "type": "recommended" }, { "name": "Siat8a", "type": "synonym" }, { "name": "Siat8", "type": "synonym" }, { "name": "St8sia1", "type": "synonym" } ], "record_id": "G3V7T2-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P11685-1", "uniprot_ac": "P11685", "uniprot_id": "PSPC_RAT", "refseq_ac": "NP_059038", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Surfactant protein C", "type": "recommended" }, { "name": "Pulmonary surfactant-associated protein C", "type": "synonym" }, { "name": "Pulmonary surfactant-associated proteolipid SPL(Val)", "type": "synonym" }, { "name": "SP-C", "type": "synonym" }, { "name": "Surfactant, pulmonary-associated protein C", "type": "synonym" }, { "name": "pulmonary surfactant-associated protein C", "type": "synonym" }, { "name": "pulmonary surfactant-associated proteolipid SPL(Val)", "type": "synonym" }, { "name": "surfactant associated protein C", "type": "synonym" }, { "name": "surfactant protein C", "type": "synonym" } ], "gene_names": [ { "name": "Sftpc", "type": "recommended" }, { "name": "SP-C", "type": "synonym" }, { "name": "Sftp2", "type": "synonym" }, { "name": "Sftpc", "type": "synonym" } ], "record_id": "P11685-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "Q62633-1", "uniprot_ac": "Q62633", "uniprot_id": "NTCP2_RAT", "refseq_ac": "NP_058918", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ileal sodium/bile acid 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"https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "P23739-1", "uniprot_ac": "P23739", "uniprot_id": "SUIS_RAT", "refseq_ac": "", "glycoprotein": "yes", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Sucrase-isomaltase, intestinal", "type": "recommended" } ], "gene_names": [ { "name": "Si", "type": "recommended" } ], "record_id": "P23739-1", "evidence": [ { "id": "0080425", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0080425" } ] }, { "uniprot_canonical_ac": "Q9VDT9-1", "uniprot_ac": "Q9VDT9", "uniprot_id": "Q9VDT9_DROME", "refseq_ac": "NP_732452", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": 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