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Dictionary name: disgenet

Creator:

jdkim@dbcls.rois.ac.jp

Description:

Labeling literals extracted from DisGENET, using rdfs:label and dc:title.
PubMed identifiers are removed. Some class lables are manually added.

Entry nameIDLabel
1-30 / 142032 show all
#100800 ACHONDROPLASIA; ACHhttp://identifiers.org/omim/100800
10p Deletion Syndrome (Partial)http://identifiers.org/mesh.2013/C538288
116100 CATARACT, MEMBRANOUShttp://identifiers.org/omim/116100
#118400 CHERUBISM;;CRBMhttp://identifiers.org/omim/118400
118900 CIRRHOSIS, FAMILIALhttp://identifiers.org/omim/118900
11-Beta-hydroxylase deficiencyhttp://linkedlifedata.com/resource/umls/id/C3669121
11 pairs of ribshttp://purl.obolibrary.org/obo/HP_0000878
%121400 CORNEA PLANA 1; CNA1http://identifiers.org/omim/121400
131600 EPIDERMOID CYSTShttp://identifiers.org/omim/131600
1-3 toe syndactylyhttp://purl.obolibrary.org/obo/HP_0001459
#146000 HYPOCHONDROPLASIA; HCHhttp://identifiers.org/omim/146000
#148300 KERATOCONUS 1; KTCN1http://identifiers.org/omim/148300
#150250 LARSEN SYNDROME; LRShttp://identifiers.org/omim/150250
#150699 LEIOMYOMA, UTERINE; ULhttp://identifiers.org/omim/150699
156000 MENIERE DISEASEhttp://identifiers.org/omim/156000
#158000 MONILETHRIXhttp://identifiers.org/omim/158000
1-5 finger syndactylyhttp://purl.obolibrary.org/obo/HP_0010708
15 kDa selenoproteinhttp://identifiers.org/ncbigene/9403
15q11.2 microdeletion syndromehttp://identifiers.org/orphanet/261183
15Q13.3 MICRODELETION SYNDROMEhttps://decipher.sanger.ac.uk/syndrome/74
15q24 Microdeletionhttp://linkedlifedata.com/resource/umls/id/C3697269
15q24 Microdeletionhttp://identifiers.org/mesh.2013/C579849
1-5 toe syndactylyhttp://purl.obolibrary.org/obo/HP_0010713
#168400 PARASTREMMATIC DWARFISMhttp://identifiers.org/omim/168400
16p11.2 Deletion Syndromehttp://linkedlifedata.com/resource/umls/id/C3697355
16p11.2 Deletion Syndromehttp://identifiers.org/mesh.2013/C579850
#170100 PROLIDASE DEFICIENCYhttp://identifiers.org/omim/170100
17,20-Lyase Deficiency, Isolatedhttp://linkedlifedata.com/resource/umls/id/C3277849
17,20-Lyase Deficiency, Isolatedhttp://identifiers.org/mesh.2013/C567076
#176807 PROSTATE CANCERhttp://identifiers.org/omim/176807

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