[ { "title": "Pancreatic lipase and its related proteins: where are we now?", "journal": "Drug discovery today", "date": "2024-01", "authors": "Yadav Nisha, Paul Atish T", "reference": { "type": "PubMed", "id": "38081381", "url": "https://pubmed.ncbi.nlm.nih.gov/38081381" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P54317-1", "protein_name": "Pancreatic lipase-related protein 2", "gene_name": "PNLIPRP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54315-1", "protein_name": "Inactive pancreatic lipase-related protein 1", "gene_name": "PNLIPRP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16233-1", "protein_name": "Pancreatic triacylglycerol lipase", "gene_name": "PNLIP", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54317", "url": "https://www.uniprot.org/uniprotkb/P54317" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.38081381", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 3 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Studies on the substrate specificity of a carboxyl ester hydrolase from human pancreatic juice. I. Action on carboxyl esters, glycerides and phospholipids.", "journal": "Biochimica et biophysica acta", "date": "1980", "authors": "Lombardo D, Fauvel J, Guy O", "reference": { "type": "PubMed", "id": "7350912", "url": "https://pubmed.ncbi.nlm.nih.gov/7350912" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P54317-1", "protein_name": "Pancreatic lipase-related protein 2", "gene_name": "PNLIPRP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04118-1", "protein_name": "Colipase", "gene_name": "CLPS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19835-1", "protein_name": "Bile salt-activated lipase", "gene_name": "CEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54315-1", "protein_name": "Inactive pancreatic lipase-related protein 1", "gene_name": "PNLIPRP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07098-1", "protein_name": "Gastric triacylglycerol lipase", "gene_name": "LIPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16233-1", "protein_name": "Pancreatic triacylglycerol lipase", "gene_name": "PNLIP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q17RR3-1", "protein_name": "Pancreatic lipase-related protein 3", "gene_name": "PNLIPRP3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54317", "url": "https://www.uniprot.org/uniprotkb/P54317" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7350912", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "phosphorylation", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_reported_with_glycan", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_predicted", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Studies on the substrate specificity of a carboxyl ester hydrolase from human pancreatic juice. II. Action on cholesterol esters and lipid-soluble vitamin esters.", "journal": "Biochimica et biophysica acta", "date": "1980", "authors": "Lombardo D, Guy O", "reference": { "type": "PubMed", "id": "7350913", "url": "https://pubmed.ncbi.nlm.nih.gov/7350913" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P54317-1", "protein_name": "Pancreatic lipase-related protein 2", "gene_name": "PNLIPRP2", "tax_name": "Human" }, { "uniprot_canonical_ac": "P04118-1", "protein_name": "Colipase", "gene_name": "CLPS", "tax_name": "Human" }, { "uniprot_canonical_ac": "P19835-1", "protein_name": "Bile salt-activated lipase", "gene_name": "CEL", "tax_name": "Human" }, { "uniprot_canonical_ac": "P54315-1", "protein_name": "Inactive pancreatic lipase-related protein 1", "gene_name": "PNLIPRP1", "tax_name": "Human" }, { "uniprot_canonical_ac": "P07098-1", "protein_name": "Gastric triacylglycerol lipase", "gene_name": "LIPF", "tax_name": "Human" }, { "uniprot_canonical_ac": "P16233-1", "protein_name": "Pancreatic triacylglycerol lipase", "gene_name": "PNLIP", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q17RR3-1", "protein_name": "Pancreatic lipase-related protein 3", "gene_name": "PNLIPRP3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P54317", "url": "https://www.uniprot.org/uniprotkb/P54317" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.7350913", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 7 } ], "sort_fields": [ "uniprot_canonical_ac", "protein_name", "gene_name", "tax_name" ] }, { "table_id": "referenced_glycans", "table_stats": [ { "field": "total", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation", 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"count": 0 } ], "sort_fields": [] } ] }, { "title": "MPP3 is recruited to the MPP5 protein scaffold at the retinal outer limiting membrane.", "journal": "FEBS J.", "date": "2006", "authors": "Kantardzhieva A, Alexeeva S, Versteeg I, Wijnholds J", "reference": { "type": "PubMed", "id": "16519681", "url": "https://pubmed.ncbi.nlm.nih.gov/16519681" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "Q13368-1", "protein_name": "MAGUK p55 subfamily member 3", "gene_name": "MPP3", "tax_name": "Human" }, { "uniprot_canonical_ac": "O88910-1", "protein_name": "MAGUK p55 subfamily member 3", "gene_name": "Mpp3", "tax_name": "Mouse" }, { "uniprot_canonical_ac": "Q8N3R9-1", "protein_name": "Protein PALS1", "gene_name": "PALS1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q12959-1", "protein_name": "Disks large homolog 1", "gene_name": "DLG1", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q811D0-1", "protein_name": "Disks large homolog 1", "gene_name": "Dlg1", 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to screen for known mutations in hypertrophic cardiomyopathy.", "journal": "Human mutation", "date": "2002", "authors": "Waldmuller S, Freund P, Mauch S, Toder R, Vosberg HP", "reference": { "type": "PubMed", "id": "11968089", "url": "https://pubmed.ncbi.nlm.nih.gov/11968089" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P12883-1", "protein_name": "Myosin-7", "gene_name": "MYH7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprotkb/P12883" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.11968089", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": "total", "count": 1 } ], "sort_fields": [ "uniprot_canonical_ac", 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cardiomyopathy: two homozygous cases with `typical` hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy.", "journal": "Biochemical and biophysical research communications", "date": "2003", "authors": "Nanni L, Pieroni M, Chimenti C, Simionati B, Zimbello R, Maseri A, Frustaci A, Lanfranchi G", "reference": { "type": "PubMed", "id": "12951062", "url": "https://pubmed.ncbi.nlm.nih.gov/12951062" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P12883-1", "protein_name": "Myosin-7", "gene_name": "MYH7", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14896-1", "protein_name": "Myosin-binding protein C, cardiac-type", "gene_name": "MYBPC3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprotkb/P12883" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo 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{ "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] }, { "table_id": "glycosylation_automatic_literature_mining", "table_stats": [ { "field": "total", "count": 0 }, { "field": "total_sites", "count": 0 }, { "field": "n_linked_sites", "count": 0 }, { "field": "o_linked_sites", "count": 0 }, { "field": "n_linked_glycan_sites", "count": 0 }, { "field": "o_linked_glycan_sites", "count": 0 }, { "field": "n_linked_glycans", "count": 0 }, { "field": "o_linked_glycans", "count": 0 } ], "sort_fields": [] } ] }, { "title": "Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.", "journal": "Clinical genetics", "date": "2003", "authors": "Erdmann J, Daehmlow S, Wischke 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chemistry", "date": "2005", "authors": "Song L, Zou Y, Wang J, Wang Z, Zhen Y, Lou K, Zhang Q, Wang X, Wang H, Li J, Hui R", "reference": { "type": "PubMed", "id": "15563892", "url": "https://pubmed.ncbi.nlm.nih.gov/15563892" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P12883-1", "protein_name": "Myosin-7", "gene_name": "MYH7", "tax_name": "Human" }, { "uniprot_canonical_ac": "P45379-1", "protein_name": "Troponin T, cardiac muscle", "gene_name": "TNNT2", "tax_name": "Human" }, { "uniprot_canonical_ac": "Q14896-1", "protein_name": "Myosin-binding protein C, cardiac-type", "gene_name": "MYBPC3", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprotkb/P12883" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.15563892", "abstract": "", "glycosylation": [], 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Cardiovascular genetics", "date": "2011", "authors": "Postma AV, van Engelen K, van de Meerakker J, Rahman T, Probst S, Baars MJ, Bauer U, Pickardt T, Sperling SR, Berger F, Moorman AF, Mulder BJ, Thierfelder L, Keavney B, Goodship J, Klaassen S", "reference": { "type": "PubMed", "id": "21127202", "url": "https://pubmed.ncbi.nlm.nih.gov/21127202" }, "referenced_glycans": [], "referenced_proteins": [ { "uniprot_canonical_ac": "P12883-1", "protein_name": "Myosin-7", "gene_name": "MYH7", "tax_name": "Human" } ], "species": [ { "name": "Homo sapiens", "taxid": 9606, "evidence": [ { "database": "UniProtKB", "id": "P12883", "url": "https://www.uniprot.org/uniprotkb/P12883" } ], "common_name": "Human", "glygen_name": "Human", "reference_species": "Homo sapiens [9606]" } ], "record_id": "pubmed.21127202", "abstract": "", "glycosylation": [], "mutagenesis": [], "snv": [], "phosphorylation": [], "glycation": [], "section_stats": [ { "table_id": "referenced_proteins", "table_stats": [ { "field": 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[9606]" } ], "mutagenesis": [ { "start_pos": 1188, "end_pos": 1188, "sequence_org": "T", "sequence_mut": "", "comment": "No effect on myosin incorporation into sarcomeres.", "evidence": [ { "database": "UniProtKB", "id": "P02564", "url": "https://www.uniprot.org/uniprotkb/P02564" }, { "database": "PubMed", "id": "26150528", "url": "https://pubmed.ncbi.nlm.nih.gov/26150528" } ], "uniprot_canonical_ac": "P02564-1" }, { "start_pos": 1385, "end_pos": 1385, "sequence_org": "E", "sequence_mut": "", "comment": "No effect on myosin incorporation into sarcomeres.", "evidence": [ { "database": "UniProtKB", "id": "P02564", "url": "https://www.uniprot.org/uniprotkb/P02564" }, { "database": "PubMed", "id": "26150528", "url": "https://pubmed.ncbi.nlm.nih.gov/26150528" } ], "uniprot_canonical_ac": "P02564-1" }, { "start_pos": 1582, "end_pos": 1582, "sequence_org": "E", "sequence_mut": "", "comment": "No effect on myosin incorporation into sarcomeres. 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hypertrophic" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" }, { "id": "0110307", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110307" } ] }, { "disease_id": "DOID:0110454", "recommended_name": { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110454", "name": "dilated cardiomyopathy 1S", "description": "A dilated cardiomyopathy that has_material_basis_in mutation in the MYH7 gene on chromosome 14q12." }, "synonyms": [ { "id": "DOID:0110454", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0110454", "name": "CMD1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy 1S", 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"description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "cardiomyopathy, dilated, 1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "dilated cardiomyopathy-1S", "description": "" }, { "id": "MONDO:0013262", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0013262", "name": "left ventricular noncompaction 5", "description": "" }, { "id": "MIM:613426", "resource": "MIM", "url": "https://www.omim.org/entry/613426", "name": "Cardiomyopathy, dilated, 1S", "description": "Cardiomyopathy, dilated, 1S" } ], "unlinked_id_list": [], "evidence": [ { "id": "0110454", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:0110454" } ] }, { "disease_id": "DOID:0070197", "recommended_name": { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070197", "name": "distal myopathy 1", "description": "A distal myopathy that is characterized by autosomal dominant inheritance that has_material_basis_in mutation in the MYH7 gene on chromosome 14q11.2." }, "synonyms": [ { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070197", "name": "Distal myopathy type 1", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070197", "name": "Gowers disease", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070197", "name": "Laing distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070197", "name": "Laing early-onset distal myopathy", "description": "" }, { "id": "DOID:0070197", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0070197", "name": "MPD1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "MYH7-related skeletal myopathy", "description": "A rare autosomal dominant distal myopathy characterized by preferential weakness of the great toe, ankle dorsiflexor, finger extensor and neck flexor. 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"https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, early-onset, autosomal dominant", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, distal, type 1", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myopathy, late distal hereditary", "description": "" }, { "id": "MONDO:0008050", "resource": "MONDO", "url": "https://monarchinitiative.org/disease/MONDO:0008050", "name": "myosin storage myopathy", "description": "" }, { "id": "MIM:160500", "resource": "MIM", "url": "https://www.omim.org/entry/160500", "name": "Myopathy, distal, 1", "description": "Myopathy, distal, 1" } ], "unlinked_id_list": [], "evidence": [ { "id": "11720", "database": "AGR", "url": "https://www.alliancegenome.org/disease/DOID:11720" } ] }, { "disease_id": "DOID:0111268", "recommended_name": { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111268", "name": "autosomal recessive hyaline body myopathy", "description": "A hyaline body myopathy that has_material_basis_in compound heterozygous or homozygous mutation in MYH7 on 14q11.2." }, "synonyms": [ { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111268", "name": "MSMB", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111268", "name": "Myopathy, myosin storage, autosomal recessive", "description": "" }, { "id": "DOID:0111268", "resource": "Disease Ontology", "url": "https://disease-ontology.org/term/DOID:0111268", "name": "congenital myopathy 7B", "description": "" }, { "id": "DOID:0111268", 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