{ "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": [ [ "13357...", "chondromalac..." ], [ "13357...", "chondromalac..." ] ], "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_key" }, { "type": "string", "label": "xref_id" } ], [ "13357", "chondromalacia patellae", "protein_xref_icd10cm", "M22.4" ], [ "13357", "chondromalacia patellae", "protein_xref_icd9cm", "717.7" ], [ "13357", "chondromalacia patellae", "protein_xref_mesh", "D046789" ], [ "13357", "chondromalacia patellae", "protein_xref_umls", "C0008475" ], [ "13357", "chondromalacia patellae", "protein_xref_mondo", "0008207" ], [ "13356", "senile ectropion", "protein_xref_icd9cm", "374.11" ], [ "13356", "senile ectropion", "protein_xref_umls", "C0155193" ], [ "13356", "senile ectropion", "protein_xref_mondo", "0001695" ], [ "11543", "corneal abscess", "protein_xref_icd10cm", "H16.31" ], [ "11543", "corneal abscess", "protein_xref_icd9cm", "370.55" ], [ "11543", "corneal abscess", "protein_xref_umls", "C0155091" ], [ "11543", "corneal abscess", "protein_xref_mondo", "0001307" ], [ "0070290", "primary autosomal recessive microcephaly 6", "protein_xref_mondo", "0012029" ], [ "11541", "recurrent corneal erosion", "protein_xref_icd10cm", "H18.83" ], [ "11541", "recurrent corneal erosion", "protein_xref_icd9cm", "371.42" ], [ "11541", "recurrent corneal erosion", "protein_xref_umls", "C0155119" ], [ "11541", "recurrent corneal erosion", "protein_xref_mondo", "0001306" ], [ "11547", "corneal deposit", "protein_xref_icd10cm", "H18.00" ], [ "11547", "corneal deposit", "protein_xref_icd9cm", "371.10" ], [ "11547", "corneal deposit", "protein_xref_umls", "C0162281" ], [ "11547", "corneal deposit", "protein_xref_mondo", "0001308" ], [ "11549", "Adie syndrome", "protein_xref_mesh", "D000270" ], [ "11549", "Adie syndrome", "protein_xref_umls", "C0001519" ], [ "11549", "Adie syndrome", "protein_xref_mondo", "0018690" ], [ "5982", "kidney fibrosarcoma", "protein_xref_umls", "C0238208" ], [ "5982", "kidney fibrosarcoma", "protein_xref_mondo", "0003720" ], [ "5983", "kidney osteogenic sarcoma", "protein_xref_umls", "C1335747" ], [ "5983", "kidney osteogenic sarcoma", "protein_xref_mondo", "0003721" ], [ "0110881", "holoprosencephaly 1", "protein_xref_mondo", "0009349" ], [ "13548", "secondary Parkinson disease", "protein_xref_icd10cm", "G21" ], [ "13548", "secondary Parkinson disease", "protein_xref_icd9cm", "332.1" ], [ "13548", "secondary Parkinson disease", "protein_xref_mesh", "D010302" ], [ "13548", "secondary Parkinson disease", "protein_xref_umls", "C0030569" ], [ "13548", "secondary Parkinson disease", "protein_xref_mondo", "0006966" ], [ "0090091", "hypogonadotropic hypogonadism 23 with or without anosmia", "protein_xref_icd10cm", "Q56.1" ], [ "0090091", "hypogonadotropic hypogonadism 23 with or without anosmia", "protein_xref_mondo", "0009223" ], [ "0090110", "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "protein_xref_icd10cm", "E31.0" ], [ "0090110", "immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome", "protein_xref_mondo", "0010580" ], [ "0090093", "hypogonadotropic hypogonadism 21 with or without anosmia", "protein_xref_icd10cm", "E23.0" ], [ "0090093", "hypogonadotropic hypogonadism 21 with or without anosmia", "protein_xref_mondo", "0014107" ], [ "0090092", "hypogonadotropic hypogonadism 3 with or without anosmia", "protein_xref_icd10cm", "E23.0" ], [ "0090092", "hypogonadotropic hypogonadism 3 with or without anosmia", "protein_xref_mondo", "0009482" ], [ "0090094", "hypogonadotropic hypogonadism 1 with or without anosmia", "protein_xref_icd10cm", "E23.0" ], [ "0090094", "hypogonadotropic hypogonadism 1 with or without anosmia", "protein_xref_mondo", "0010635" ], [ "0090111", "PCWH syndrome", "protein_xref_icd10cm", "E75.2" ], [ "0090111", "PCWH syndrome", "protein_xref_mondo", "0012198" ], [ "0110959", "Gaucher's disease type III", "protein_xref_icd10cm", "E75.2" ], [ "0110959", "Gaucher's disease type III", "protein_xref_mondo", "0009267" ], [ "0110958", "Gaucher's disease type II", "protein_xref_icd10cm", "E75.2" ], [ "0110958", "Gaucher's disease type II", "protein_xref_mondo", "0009266" ], [ "0090112", "Nasu-Hakola disease", "protein_xref_mesh", "C536329" ], [ "0090112", "Nasu-Hakola disease", "protein_xref_umls", "C1857316" ], [ "0090112", "Nasu-Hakola disease", "protein_xref_mondo", "0009092" ], [ "0110953", "Waardenburg syndrome type 4A", "protein_xref_mondo", "0010192" ], [ "0110952", "Waardenburg syndrome type 2D", "protein_xref_mondo", "0012144" ], [ "0110951", "Waardenburg syndrome type 2C", "protein_xref_mondo", "0011697" ], [ "0110950", "Waardenburg syndrome type 2A", "protein_xref_mondo", "0008671" ], [ "0110957", "Gaucher's disease type I", "protein_xref_icd10cm", "E75.2" ], [ "0110957", "Gaucher's disease type I", "protein_xref_mondo", "0009265" ], [ "0110956", "Waardenburg syndrome type 2E", "protein_xref_mondo", "0012698" ], [ "0110955", "Waardenburg syndrome type 4C", "protein_xref_mondo", "0013202" ], [ "0110954", "Waardenburg syndrome type 4B", "protein_xref_mondo", "0013201" ], [ "0050696", "fetal alcohol spectrum disorder", "protein_xref_mondo", "0000408" ], [ "2557", "chondromalacia", "protein_xref_icd10cm", "M94.2" ], [ "2557", "chondromalacia", "protein_xref_icd9cm", "733.92" ], [ "2557", "chondromalacia", "protein_xref_mesh", "D002357" ], [ "2557", "chondromalacia", "protein_xref_umls", "C0085700" ], [ "2557", "chondromalacia", "protein_xref_mondo", "0002342" ], [ "270", "liver sarcoma", "protein_xref_umls", "C0345906" ], [ "270", "liver sarcoma", "protein_xref_mondo", "0002397" ], [ "271", "hemangioma of liver", "protein_xref_umls", "C0238246" ], [ "271", "hemangioma of liver", "protein_xref_mondo", "0002404" ], [ "272", "hepatic vascular disease", "protein_xref_umls", "C0400923" ], [ "272", "hepatic vascular disease", "protein_xref_mondo", "0002405" ], [ "0110833", "Usher syndrome type 1E", "protein_xref_icd10cm", "H35.5" ], [ "0110833", "Usher syndrome type 1E", "protein_xref_mondo", "0011195" ], [ "0110834", "Usher syndrome type 1G", "protein_xref_icd10cm", "H35.5" ], [ "0110834", "Usher syndrome type 1G", "protein_xref_mondo", "0011748" ], [ "275", "gastric hemangioma", "protein_xref_umls", "C1333770" ], [ "275", "gastric hemangioma", "protein_xref_mondo", "0002414" ], [ "0060829", "obsolete Brooks-Wisniewski-Brown syndrome", "protein_xref_mondo", "0010376" ], [ "277", "chorioangioma", "protein_xref_mesh", "D006391" ], [ "277", "chorioangioma", "protein_xref_umls", "C0677608" ], [ "277", "chorioangioma", "protein_xref_mondo", "0006375" ] ] }, "readme": "Name\n - Human Disease Ontology Mapping\n\nVersion\n - 1.5.30\n\nCreated on\n - 2019-01-23T17:21:05.958718\n\nModified on\n - 2020-04-10T11:30:24.933100\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-1.5.30/source/doid.owl\n Output Subdomain\n Name: protein_domap.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.5.30/reviewed/protein_domap.csv\n Name: http://data.glygen.org/ln2data/releases/data/v-1.5.30/reviewed/protein_domap.stat.csv\n URI: http://data.glygen.org/ln2data/releases/data/v-1.5.30/reviewed/protein_domap.csv", "downloadurl": "/ln2data/releases/data/v-1.5.30/reviewed/protein_domap.csv" }