{ "bcoid": "GLY_000089", "title": "Human Disease Ontology Mapping", "description": "The Human Disease Ontology Mapping dataset contains human [taxid:9606] UniProtKB canonical accession ...", "filename": "protein_domap.csv", "filetype": "csv", "categories": { "species": "Homo Sapiens", "molecule": "Protein", "tags": "Human Disease Ontology Mapping", "file_type": "csv", "status": "Reviewed", "scope": "internal" }, "minitable": { "content": [ [ "5310...", "glycogen-ric..." ], [ "5310...", "glycogen-ric..." ] ], "headers": [ "do_id...", "do_name..." ], "colwidth": [ "40%", "20%" ] }, "sampledata": { "type": "table", "data": [ [ { "type": "string", "label": "do_id" }, { "type": "string", "label": "do_name" }, { "type": "string", "label": "xref_database" }, { "type": "string", "label": "xref_database_id" } ], [ "5310", "glycogen-rich clear cell breast carcinoma", "umls", "C0334319" ], [ "5310", "glycogen-rich clear cell breast carcinoma", "umls", "C1512224" ], [ "5310", "glycogen-rich clear cell breast carcinoma", "mondo", "0003390" ], [ "2012", "Nezelof syndrome", "icd10cm", "D81.4" ], [ "2012", "Nezelof syndrome", "icd9cm", "279.13" ], [ "2012", "Nezelof syndrome", "mesh", "C536288" ], [ "2012", "Nezelof syndrome", "umls", "C0152094" ], [ "2012", "Nezelof syndrome", "mondo", "0009451" ], [ "13736", "uterine inflammatory disease", "icd10cm", "N71.9" ], [ "13736", "uterine inflammatory disease", "icd9cm", "615.9" ], [ "13736", "uterine inflammatory disease", "umls", "C0269047" ], [ "13736", "uterine inflammatory disease", "mondo", "0001786" ], [ "4024", "scirrhous adenocarcinoma", "mesh", "D002293" ], [ "4024", "scirrhous adenocarcinoma", "umls", "C0007135" ], [ "4024", "scirrhous adenocarcinoma", "mondo", "0005953" ], [ "0070070", "autosomal dominant non-syndromic intellectual disability 40", "mondo", "0014699" ], [ "12385", "shigellosis", "kegg", "05131" ], [ "12385", "shigellosis", "icd10cm", "A03" ], [ "12385", "shigellosis", "icd10cm", "A03.0" ], [ "12385", "shigellosis", "icd10cm", "A03.1" ], [ "12385", "shigellosis", "icd10cm", "A03.2" ], [ "12385", "shigellosis", "icd10cm", "A03.9" ], [ "12385", "shigellosis", "icd9cm", "004" ], [ "12385", "shigellosis", "icd9cm", "004.0" ], [ "12385", "shigellosis", "icd9cm", "004.1" ], [ "12385", "shigellosis", "icd9cm", "004.2" ], [ "12385", "shigellosis", "icd9cm", "004.9" ], [ "12385", "shigellosis", "mesh", "D004405" ], [ "12385", "shigellosis", "umls", "C0013371" ], [ "12385", "shigellosis", "umls", "C0302358" ], [ "12385", "shigellosis", "umls", "C0302359" ], [ "12385", "shigellosis", "umls", "C0302360" ], [ "12385", "shigellosis", "mondo", "0019345" ], [ "2917", "cryoglobulinemia", "icd10cm", "D89.1" ], [ "2917", "cryoglobulinemia", "mesh", "D003449" ], [ "2917", "cryoglobulinemia", "umls", "C0010403" ], [ "2917", "cryoglobulinemia", "mondo", "0005576" ], [ "11549", "Adie syndrome", "mesh", "D000270" ], [ "11549", "Adie syndrome", "umls", "C0001519" ], [ "11549", "Adie syndrome", "mondo", "0018690" ], [ "0070073", "autosomal dominant non-syndromic intellectual disability 43", "mondo", "0014858" ], [ "4028", "angioma serpiginosum", "icd10cm", "L81.7" ], [ "4028", "angioma serpiginosum", "mesh", "C536366" ], [ "4028", "angioma serpiginosum", "umls", "C0263637" ], [ "4028", "angioma serpiginosum", "mondo", "0019803" ], [ "4029", "gastritis", "icd10cm", "K29.7" ], [ "4029", "gastritis", "mesh", "D005756" ], [ "4029", "gastritis", "umls", "C0017152" ], [ "4029", "gastritis", "mondo", "0004966" ], [ "6132", "bronchitis", "icd10cm", "J20" ], [ "6132", "bronchitis", "icd10cm", "J20.9" ], [ "6132", "bronchitis", "icd10cm", "J40" ], [ "6132", "bronchitis", "icd10cm", "J42" ], [ "6132", "bronchitis", "icd9cm", "466.0" ], [ "6132", "bronchitis", "icd9cm", "490" ], [ "6132", "bronchitis", "icd9cm", "491" ], [ "6132", "bronchitis", "icd9cm", "491.9" ], [ "6132", "bronchitis", "mesh", "D001991" ], [ "6132", "bronchitis", "mesh", "D029481" ], [ "6132", "bronchitis", "umls", "C0006277" ], [ "6132", "bronchitis", "umls", "C0008677" ], [ "6132", "bronchitis", "umls", "C0149514" ], [ "6132", "bronchitis", "mondo", "0003781" ], [ "0110434", "dilated cardiomyopathy 1Z", "icd10cm", "I42.0" ], [ "0110434", "dilated cardiomyopathy 1Z", "mondo", "0012745" ], [ "0070072", "autosomal dominant non-syndromic intellectual disability 42", "mondo", "0014855" ], [ "11385", "expressive language disorder", "icd10cm", "F80.1" ], [ "11385", "expressive language disorder", "icd9cm", "315.31" ], [ "11385", "expressive language disorder", "umls", "C0236826" ], [ "11385", "expressive language disorder", "mondo", "0001276" ], [ "0110435", "dilated cardiomyopathy 1GG", "icd10cm", "I42.0" ], [ "0110435", "dilated cardiomyopathy 1GG", "mondo", "0013339" ], [ "10892", "hypospadias", "icd10cm", "Q54" ], [ "10892", "hypospadias", "icd10cm", "Q54.9" ], [ "10892", "hypospadias", "mesh", "D007021" ], [ "10892", "hypospadias", "umls", "C0848558" ], [ "10892", "hypospadias", "mondo", "0005345" ], [ "0110340", "osteogenesis imperfecta type 4", "icd10cm", "Q78.0" ], [ "0110340", "osteogenesis imperfecta type 4", "mondo", "0008148" ], [ "14292", "vulvar dystrophy", "icd10cm", "N90.4" ], [ "14292", "vulvar dystrophy", "icd9cm", "624.0" ], [ "14292", "vulvar dystrophy", "umls", "C0013426" ], [ "14292", "vulvar dystrophy", "mondo", "0001938" ], [ "0050431", "arrhythmogenic right ventricular cardiomyopathy", "mesh", "D019571" ] ] }, "readme": "Name\n - Human Disease Ontology Mapping\n\nVersion\n - 1.5.12\n\nCreated on\n - 2019-01-23T17:21:05.958718\n\nModified on\n - 2019-12-02T15:17:09.595267\n\nCreated by\n - Jeet Vora [jeetvora@gwu.edu], Rahi Navelkar [rsn13@gwu.edu], Robel Kahsay [rykahsay@gwu.edu]\n\nAuthors\n - \n\nChecksum\n - \n\nUsability Domain\n - The Human Disease Ontology Mapping dataset contains human [taxid:9606] UniProtKB canonical accession cross-reference mappings to the Disease Ontology Ids (DOID)\n - If you use this dataset please provide proper attribution to GlyGen and Diease ontology\n\nDescription Domain\n Keywords\n - disease ontology\n - mesh id\n - icd 10\n - icd 9\n - umls id\n - kegg\n\n Pipeline Steps\n - Step-1: The script extract-from-endpoint.py extracts the cross-reference mapping between DOID and other databases such as ICD 9, ICD 10, UMLS, MeSH, Kegg and maps it to UniProtKB canonical accessions to be finally processed into a csv. The source owl file is loaded as triples in into the triplestore prior to the extraction\n\nExecution Domain\n Scripts - https://github.com/glygener/glygen-backend-integration/blob/master/pipeline/extractor/extract-from-endpoint.py\n\n\n Software Prerequisites\n Name: Python\n Version: 2.7.5\n URI: https://www.python.org/download/releases/2.7.5/\n\nI/O Domain\n Input Subdomain\n Name: doid.owl\n URI: https://data.glygen.org/ln2data/releases/data/v-1.5.12/source/doid.owl\n Output Subdomain\n Name: protein_domap.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.5.12/reviewed/protein_domap.csv\n Name: http://data.glygen.org/ln2data/releases/data/v-1.5.12/reviewed/protein_domap.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.5.12/reviewed/protein_domap.csv", "downloadurl": "/ln2data/releases/data/v-1.5.12/reviewed/protein_domap.csv" }