{ "disease_id": "DOID:0060479", "recommended_name": { "id": "DOID:0060479", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060479", "name": "Shwachman-Diamond syndrome", "description": "A syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities." }, "synonyms": [ { "id": "DOID:0060479", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060479", "name": "pancreatic insufficiency and bone marrow dysfunction", "description": "" }, { "id": "DOID:0060479", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060479", "name": "Shwachman syndrome", "description": "" }, { "id": "DOID:0060479", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060479", "name": "Shwachman-Bodian-Diamond syndrome", "description": "" }, { "id": "DOID:0060479", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0060479", "name": "Shwachman-Diamond type metaphyseal dysplasia", "description": "" }, { "id": "MONDO:0044204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044204", "name": "Shwachman-Diamond syndrome 1", "description": "A Shwachman Diamond syndrome in which the cause of the disease is a variation in the SBDS gene." }, { "id": "MONDO:0044204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044204", "name": "SBDS-related Shwachman Diamond syndrome", "description": "" }, { "id": "MONDO:0044204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044204", "name": "Shwachman-Diamond syndrome 1", "description": "" }, { "id": "MONDO:0044204", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0044204", "name": "SDS1", "description": "" }, { "id": "MIM:260400", "resource": "MIM", "url": "https://www.omim.org/entry/260400", "name": "Shwachman-Diamond 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"pescadillo", "type": "synonym" } ], "gene_names": [ { "name": "pes", "type": "recommended" }, { "name": "pes", "type": "synonym" }, { "name": "si:dkeyp-86g2.3", "type": "synonym" } ], "record_id": "P79741-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "A0A8M1PE31-1", "uniprot_ac": "A0A8M1PE31", "uniprot_id": "A0A8M1PE31_DANRE", "refseq_ac": "NP_957415", "glycoprotein": "no", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Ribosome maturation protein SBDS", "type": "recommended" }, { "name": "SBDS, ribosome assembly guanine nucleotide exchange factor", "type": "synonym" }, { "name": "ribosome maturation protein SBDS", "type": "synonym" } ], "gene_names": [ { "name": "sbds", "type": "recommended" }, { "name": "sbds", "type": "synonym" }, { "name": "zgc:56700", "type": "synonym" } ], "record_id": "A0A8M1PE31-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q6ZM19-1", "uniprot_ac": "Q6ZM19", "uniprot_id": "IF6_DANRE", "refseq_ac": "NP_957238", "glycoprotein": "yes", "species": [ { "name": "Danio rerio", "taxid": 7955, "common_name": "Zebrafish", "glygen_name": "Zebrafish", "reference_species": "Danio rerio [7955]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 6", "type": "recommended" }, { "name": "eIF-6", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 6", "type": "synonym" }, { "name": "integrin beta 4 binding protein", "type": "synonym" } ], "gene_names": [ { "name": "eif6", "type": "recommended" }, { "name": "EIF6", "type": "synonym" }, { "name": "Itgb4bp", "type": "synonym" }, { "name": "eIF-6", "type": "synonym" }, { "name": "eif6", "type": "synonym" }, { "name": "itgb4bp4", "type": "synonym" }, { "name": "si:ch211-239j9.6", "type": "synonym" }, { "name": "wu:fc28a04", "type": "synonym" }, { "name": "wu:ft88f05", "type": "synonym" }, { "name": "zgc:56562", "type": "synonym" } ], "record_id": "Q6ZM19-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q9JK88-1", "uniprot_ac": "Q9JK88", "uniprot_id": "SPI2_MOUSE", "refseq_ac": "NP_080736", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Serpin I2", "type": "recommended" }, { "name": "Serine protease inhibitor 14", "type": "synonym" }, { "name": "pancreas-specific serpin", "type": "synonym" }, { "name": "serine protease inhibitor 14", "type": "synonym" }, { "name": "serpin I2 precursor", "type": "synonym" }, { "name": "serpin I2", "type": 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"protein 22A3", "type": "synonym" }, { "name": "ribosome maturation protein SBDS", "type": "synonym" }, { "name": "shwachman-Bodian-Diamond syndrome protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Sbds", "type": "recommended" }, { "name": "4733401P19Rik", "type": "synonym" }, { "name": "CGI-97", "type": "synonym" }, { "name": "SDS", "type": "synonym" }, { "name": "Sbds", "type": "synonym" } ], "record_id": "P70122-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q8C0D5-1", "uniprot_ac": "Q8C0D5", "uniprot_id": "EFL1_MOUSE", "refseq_ac": "NP_001153144", "glycoprotein": "yes", "species": [ { "name": "Mus musculus", "taxid": 10090, "common_name": "Mouse", "glygen_name": "Mouse", "reference_species": "Mus musculus [10090]" } ], "protein_names": [ { "name": "Elongation factor-like GTPase 1", "type": "recommended" }, { "name": "3.6.5.-", "type": "synonym" }, { "name": 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"glygen_name": "Yeast", "reference_species": "Saccharomyces cerevisiae S288C [559292]" } ], "protein_names": [ { "name": "Pescadillo homolog", "type": "recommended" }, { "name": "Nucleolar protein 7", "type": "synonym" }, { "name": "Ribosomal RNA-processing protein 13", "type": "synonym" }, { "name": "mRNA-binding ribosome synthesis protein NOP7", "type": "synonym" } ], "gene_names": [ { "name": "NOP7", "type": "recommended" }, { "name": "NOP7", "type": "synonym" }, { "name": "RRP13", "type": "synonym" }, { "name": "YPH1", "type": "synonym" } ], "record_id": "P53261-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "P20424-1", "uniprot_ac": "P20424", "uniprot_id": "SRP54_YEAST", "refseq_ac": "NP_015413", "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": "Signal recognition particle subunit SRP54", "type": "recommended" }, { "name": "3.6.5.4", "type": "synonym" }, { "name": "RNA-binding signal recognition particle subunit SRP54", "type": "synonym" }, { "name": "Signal recognition particle 54 kDa protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "SRP54", "type": "recommended" }, { "name": "P9513.14", "type": "synonym" }, { "name": "SRH1", "type": "synonym" }, { "name": "SRP54", "type": "synonym" } ], "record_id": "P20424-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "P14126-1", "uniprot_ac": "P14126", "uniprot_id": "RL3_YEAST", "refseq_ac": "NP_014706", "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": "Large ribosomal subunit protein uL3", "type": "recommended" }, { "name": "60S ribosomal protein L3", "type": "synonym" }, { "name": "60S ribosomal protein uL3 RPL3", "type": "synonym" }, { "name": "Maintenance of killer protein 8", "type": "synonym" }, { "name": "RP1", "type": "synonym" }, { "name": "Trichodermin resistance protein", "type": "synonym" }, { "name": "YL1", "type": "synonym" } ], "gene_names": [ { "name": "RPL3", "type": "recommended" }, { "name": "MAK8", "type": "synonym" }, { "name": "RPL3", "type": "synonym" }, { "name": "TCM1", "type": "synonym" }, { "name": "YOR29-14", "type": "synonym" } ], "record_id": "P14126-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "D3ZXJ5-1", "uniprot_ac": "D3ZXJ5", "uniprot_id": "D3ZXJ5_RAT", "refseq_ac": "NP_001101004", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Elongation factor-like GTPase 1", "type": "recommended" }, { "name": "Elongation factor Tu GTP-binding domain-containing protein 1", "type": "synonym" }, { "name": "Elongation factor-like 1", "type": "synonym" }, { "name": "Protein FAM42A", "type": "synonym" }, { "name": "elongation factor Tu GTP binding domain containing 1", "type": "synonym" }, { "name": "elongation factor Tu GTP-binding domain-containing protein 1", "type": "synonym" }, { "name": "elongation factor-like GTPase 1", "type": "synonym" } ], "gene_names": [ { "name": "Efl1", "type": "recommended" }, { "name": "Efl1", "type": "synonym" }, { "name": "Eftud1", "type": "synonym" } ], "record_id": "D3ZXJ5-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q5RK30-1", "uniprot_ac": "Q5RK30", "uniprot_id": "SBDS_RAT", "refseq_ac": "NP_001008290", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Ribosome maturation protein SBDS", "type": "recommended" }, { "name": "SBDS ribosome assembly guanine nucleotide exchange factor", "type": "synonym" }, { "name": "Shwachman-Bodian-Diamond syndrome homolog", "type": "synonym" }, { "name": "Shwachman-Bodian-Diamond syndrome protein homolog", "type": "synonym" }, { "name": "ribosome maturation protein SBDS", "type": "synonym" }, { "name": "shwachman-Bodian-Diamond syndrome protein homolog", "type": "synonym" } ], "gene_names": [ { "name": "Sbds", "type": "recommended" }, { "name": "Sbds", "type": "synonym" } ], "record_id": "Q5RK30-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "A0A8I6AC66-1", "uniprot_ac": "A0A8I6AC66", "uniprot_id": "A0A8I6AC66_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": "Eukaryotic translation initiation factor 6", "type": "recommended" }, { "name": "eIF-6", "type": "synonym" } ], "gene_names": [ { "name": "Eif6-ps1", "type": "recommended" }, { "name": "EIF6", "type": "synonym" }, { "name": "ITGB4BP", "type": "synonym" } ], "record_id": "A0A8I6AC66-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q3KRD8-1", "uniprot_ac": "Q3KRD8", "uniprot_id": "IF6_RAT", "refseq_ac": "NP_001032429", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Eukaryotic translation initiation factor 6", "type": "recommended" }, { "name": "eIF-6", "type": "synonym" }, { "name": "eukaryotic translation initiation factor 6", "type": "synonym" }, { "name": "integrin beta 4 binding protein", "type": "synonym" } ], "gene_names": [ { "name": "Eif6", "type": "recommended" }, { "name": "EIF6", "type": "synonym" }, { "name": "Eif6", "type": "synonym" }, { "name": "ITGB4BP", "type": "synonym" }, { "name": "Itgb4bp", "type": "synonym" }, { "name": "eIF-6", "type": "synonym" } ], "record_id": "Q3KRD8-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "P21531-1", "uniprot_ac": "P21531", "uniprot_id": "RL3_RAT", "refseq_ac": "NP_942048", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Large ribosomal subunit protein uL3", "type": "recommended" }, { "name": "60S ribosomal protein L3", "type": "synonym" }, { "name": "L4", "type": "synonym" }, { "name": "large ribosomal subunit protein uL3", "type": "synonym" } ], "gene_names": [ { "name": "Rpl3", "type": "recommended" }, { "name": "Rpl3", "type": "synonym" } ], "record_id": "P21531-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q6AYB5-1", "uniprot_ac": "Q6AYB5", "uniprot_id": "SRP54_RAT", "refseq_ac": "NP_446323", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Signal recognition particle subunit SRP54", "type": "recommended" }, { "name": "3.6.5.4", "type": "synonym" }, { "name": "Signal recognition particle 54 kDa protein", "type": "synonym" }, { "name": "signal recognition particle 54 kDa protein", "type": "synonym" }, { "name": "signal recognition particle subunit SRP54", "type": "synonym" } ], "gene_names": [ { "name": "Srp54a", "type": "recommended" }, { "name": "Srp54", "type": "recommended" }, { "name": "Srp54a", "type": "synonym" }, { "name": "Srp54", "type": "synonym" } ], "record_id": "Q6AYB5-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q3B8N8-1", "uniprot_ac": "Q3B8N8", "uniprot_id": "PESC_RAT", "refseq_ac": "NP_001037693", "glycoprotein": "no", "species": [ { "name": "Rattus norvegicus", "taxid": 10116, "common_name": "Rat", "glygen_name": "Rat", "reference_species": "Rattus norvegicus [10116]" } ], "protein_names": [ { "name": "Pescadillo homolog", "type": "recommended" }, { "name": "pescadillo homolog 1, containing BRCT domain", "type": "synonym" }, { "name": 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"recommended" }, { "name": "CG10162", "type": "synonym" }, { "name": "CG33158", "type": "synonym" }, { "name": "CG4638", "type": "synonym" }, { "name": "Dmel\\CG33158", "type": "synonym" }, { "name": "Dmel_CG33158", "type": "synonym" } ], "record_id": "Q9VV61-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q9VRY5-1", "uniprot_ac": "Q9VRY5", "uniprot_id": "Q9VRY5_DROME", "refseq_ac": "NP_001261482", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Ribosome maturation protein SBDS", "type": "recommended" }, { "name": "CG8549-PB", "type": "synonym" }, { "name": "SBDS ribosome maturation factor, isoform B", "type": "synonym" }, { "name": "Sbds-PB", "type": "synonym" } ], "gene_names": [ { "name": "Sbds", 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"synonym" } ], "gene_names": [ { "name": "eIF6", "type": "recommended" }, { "name": "CG17611", "type": "synonym" }, { "name": "DeIF6", "type": "synonym" }, { "name": "Dmel\\CG17611", "type": "synonym" }, { "name": "EIF6", "type": "synonym" }, { "name": "anon-WO0172774.153", "type": "synonym" }, { "name": "anon-WO0172774.155", "type": "synonym" }, { "name": "eIF6", "type": "synonym" }, { "name": "eif6", "type": "synonym" }, { "name": "elF6", "type": "synonym" }, { "name": "l(2)k13214", "type": "synonym" } ], "record_id": "P56538-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "O16797-1", "uniprot_ac": "O16797", "uniprot_id": "RL3_DROME", "refseq_ac": "NP_524316", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { 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[ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "Q9VL96-1", "uniprot_ac": "Q9VL96", "uniprot_id": "PESC_DROME", "refseq_ac": "NP_609305", "glycoprotein": "no", "species": [ { "name": "Drosophila melanogaster", "taxid": 7227, "common_name": "Fruit fly", "glygen_name": "Fruit fly", "reference_species": "Drosophila melanogaster [7227]" } ], "protein_names": [ { "name": "Pescadillo homolog", "type": "recommended" }, { "name": "CG4364-PA", "type": "synonym" }, { "name": "uncharacterized protein", "type": "synonym" } ], "gene_names": [ { "name": "CG4364", "type": "synonym" }, { "name": "Dmel\\CG4364", "type": "synonym" } ], "record_id": "Q9VL96-1", "evidence": [ { "id": "0060479", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0060479" } ] }, { "uniprot_canonical_ac": "A1Z6R3-1", "uniprot_ac": "A1Z6R3", "uniprot_id": "A1Z6R3_DROME", "refseq_ac": "NP_610244", "glycoprotein": "no", 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