From: Seth C. <sjc...@us...> - 2011-04-26 07:02:09
|
Update of /cvsroot/obo/obo/ontology/phenotype In directory vz-cvs-4.sog:/tmp/cvs-serv9776/phenotype Modified Files: human_disease.obo mosquito_insecticide_resistance.obo Log Message: Automated file update Index: human_disease.obo =================================================================== RCS file: /cvsroot/obo/obo/ontology/phenotype/human_disease.obo,v retrieving revision 1.347 retrieving revision 1.348 diff -C2 -d -r1.347 -r1.348 *** human_disease.obo 21 Apr 2011 07:02:08 -0000 1.347 --- human_disease.obo 26 Apr 2011 07:02:01 -0000 1.348 *************** *** 1,4 **** format-version: 1.2 ! date: 20:04:2011 16:39 auto-generated-by: OBO-Edit 2.1-beta6 subsetdef: GOLD "GOLD" --- 1,4 ---- format-version: 1.2 ! date: 25:04:2011 16:44 auto-generated-by: OBO-Edit 2.1-beta6 subsetdef: GOLD "GOLD" *************** *** 3959,3964 **** --- 3959,3966 ---- synonym: "hereditary sensory and autonomic neuropathy" EXACT [] xref: OMIM:162400 + xref: OMIM:201300 xref: OMIM:256800 xref: OMIM:608654 + xref: OMIM:613115 xref: OMIM:613640 is_a: DOID:0060053 ! peripheral neuropathy *************** *** 4031,4034 **** --- 4033,4037 ---- xref: OMIM:608840 xref: OMIM:613204 + xref: OMIM:613205 is_a: DOID:9884 ! muscular dystrophy *************** *** 4364,4373 **** name: gummatous syphilis is_a: DOID:8200 ! tertiary syphilis - created_by: snadendla - creation_date: 2011-04-20T12:26:45Z [Term] id: DOID:0050585 ! name: congenital generalized lipodystrophy comment: OMIM mapping confirmed by DO. [SN]. synonym: "Beradinelli-Seip syndrome" EXACT [] --- 4367,4374 ---- name: gummatous syphilis is_a: DOID:8200 ! tertiary syphilis [Term] id: DOID:0050585 ! name: congenital generalized lipodystrophy comment: OMIM mapping confirmed by DO. [SN]. synonym: "Beradinelli-Seip syndrome" EXACT [] *************** *** 4377,4382 **** xref: OMIM:613327 is_a: DOID:811 ! lipodystrophy ! created_by: snadendla ! creation_date: 2011-04-20T03:11:30Z [Term] --- 4378,4452 ---- xref: OMIM:613327 is_a: DOID:811 ! lipodystrophy ! ! [Term] ! id: DOID:0050586 ! name: hereditary nonpolyposis colorectal cancer ! comment: OMIM mapping confirmed by DO. [SN]. ! xref: OMIM:609310 ! xref: OMIM:613244 ! is_a: DOID:0050177 ! simple genetic disease ! ! [Term] ! id: DOID:0050587 ! name: trichotillomania ! comment: OMIM mapping confirmed by DO. [SN]. ! xref: OMIM:613229 ! is_a: DOID:10937 ! impulse control disease ! ! [Term] ! id: DOID:0050588 ! name: muscular dystrophy-dystroglycanopathy ! xref: OMIM:613150 ! xref: OMIM:613151 ! xref: OMIM:613152 ! xref: OMIM:613153 ! xref: OMIM:613154 ! xref: OMIM:613155 ! xref: OMIM:613156 ! is_a: DOID:0050557 ! congenital muscular dystrophy ! ! [Term] ! id: DOID:0050589 ! name: inflammatory bowel disease ! comment: OMIM mapping confirmed by DO. [SN]. ! xref: OMIM:266600 ! xref: OMIM:611081 ! xref: OMIM:612244 ! xref: OMIM:612245 ! xref: OMIM:612261 ! xref: OMIM:612567 ! xref: OMIM:613148 ! is_a: DOID:5295 ! intestinal disease ! ! [Term] ! id: DOID:0050590 ! name: severe congenital neutropenia ! comment: OMIM mapping confirmed by DO. [SN]. ! xref: OMIM:202700 ! xref: OMIM:300299 ! xref: OMIM:610738 ! xref: OMIM:612541 ! xref: OMIM:613107 ! is_a: DOID:1227 ! neutropenia ! ! [Term] ! id: DOID:0050591 ! name: tooth agenesis ! synonym: "familial tooth agenesis" EXACT [] ! synonym: "HYPODONTIA/OLIGODONTIA" EXACT [] ! synonym: "selective tooth agenesis" EXACT [] ! xref: OMIM:106600 ! xref: OMIM:313500 ! xref: OMIM:604625 ! xref: OMIM:613097 ! is_a: DOID:1091 ! tooth disease ! ! [Term] ! id: DOID:0050592 ! name: asphyxiating thoracic dystrophy ! comment: OMIM mapping confirmed by DO. [SN]. ! xref: OMIM:611263 ! xref: OMIM:613091 ! is_a: DOID:0050177 ! simple genetic disease [Term] *************** *** 4801,4804 **** --- 4871,4875 ---- comment: OMIM mapping confirmed by DO. [LS]. xref: OMIM:162000 + xref: OMIM:613092 is_a: DOID:557 ! kidney disease *************** *** 9966,9969 **** --- 10037,10041 ---- xref: ICD9CM_2010:319 xref: MSH2010_2010_02_22:D008607 + xref: OMIM:613192 xref: SNOMEDCT_2010_1_31:110359009 xref: SNOMEDCT_2010_1_31:154978008 *************** *** 10454,10458 **** --- 10526,10535 ---- xref: OMIM:601186 xref: OMIM:607932 + xref: OMIM:610093 xref: OMIM:610125 + xref: OMIM:611038 + xref: OMIM:611040 + xref: OMIM:613094 + xref: OMIM:613704 xref: SNOMEDCT_2010_1_31:156902006 xref: SNOMEDCT_2010_1_31:204104003 *************** *** 10689,10692 **** --- 10766,10772 ---- xref: MSH2010_2010_02_22:D005902 xref: NCI2009_04D:C34641 + xref: OMIM:137750 + xref: OMIM:609887 + xref: OMIM:613100 xref: SNOMEDCT_2010_1_31:111513000 xref: SNOMEDCT_2010_1_31:193538009 *************** *** 14877,14880 **** --- 14957,14961 ---- synonym: "simple buphthalmos" EXACT [SNOMEDCT_2005_07_31:268157004] xref: ICD9CM_2010:743.21 + xref: OMIM:231300 xref: SNOMEDCT_2010_1_31:13832009 xref: SNOMEDCT_2010_1_31:204116009 *************** *** 43337,43340 **** --- 43418,43423 ---- xref: MSH2010_2010_02_22:D002178 xref: NCI2009_04D:C34444 + xref: OMIM:212050 + xref: OMIM:613108 xref: SNOMEDCT_2010_1_31:234568006 xref: UMLS_CUI:C0006845 *************** *** 44476,44479 **** --- 44559,44570 ---- synonym: "Amelogenesis imperfecta (disorder)" EXACT [SNOMEDCT_2005_07_31:78494001] xref: MSH2010_2010_02_22:D000567 + xref: OMIM:104500 + xref: OMIM:104510 + xref: OMIM:130900 + xref: OMIM:204650 + xref: OMIM:204700 + xref: OMIM:301200 + xref: OMIM:612529 + xref: OMIM:613211 xref: SNOMEDCT_2010_1_31:78494001 xref: UMLS_CUI:C0002452 *************** *** 44509,44516 **** --- 44600,44610 ---- id: DOID:2211 name: factor XIII deficiency + comment: OMIM mapping confirmed by DO. [SN]. synonym: "deficiency, Laki-Lorand factor" EXACT [MTHICD9_2006:286.3] synonym: "Factor XIII deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:18604004] synonym: "Hereditary factor XIII deficiency disease (disorder)" EXACT [SNOMEDCT_2005_07_31:50189006] xref: MSH2010_2010_02_22:D005177 + xref: OMIM:613225 + xref: OMIM:613235 xref: SNOMEDCT_2010_1_31:18604004 xref: SNOMEDCT_2010_1_31:50189006 *************** *** 59961,59965 **** xref: UMLS_CUI:C0009405 xref: UMLS_CUI:C1333990 ! is_a: DOID:0050177 ! simple genetic disease [Term] --- 60055,60059 ---- xref: UMLS_CUI:C0009405 xref: UMLS_CUI:C1333990 ! is_a: DOID:0050586 ! hereditary nonpolyposis colorectal cancer [Term] *************** *** 64740,64743 **** --- 64834,64842 ---- xref: MSH2010_2010_02_22:D001477 xref: NCI2009_04D:C34412 + xref: OMIM:241200 + xref: OMIM:601678 + xref: OMIM:602522 + xref: OMIM:607364 + xref: OMIM:613090 xref: SNOMEDCT_2010_1_31:190506003 xref: SNOMEDCT_2010_1_31:71275003 *************** *** 92807,92811 **** xref: UMLS_CUI:C0009324 xref: UMLS_CUI:C0375359 ! is_a: DOID:5295 ! intestinal disease [Term] --- 92906,92910 ---- xref: UMLS_CUI:C0009324 xref: UMLS_CUI:C0375359 ! is_a: DOID:0050589 ! inflammatory bowel disease [Term] *************** *** 94803,94807 **** xref: SNOMEDCT_2010_1_31:56689002 xref: UMLS_CUI:C0156146 ! is_a: DOID:5295 ! intestinal disease [Term] --- 94902,94906 ---- xref: SNOMEDCT_2010_1_31:56689002 xref: UMLS_CUI:C0156146 ! is_a: DOID:0050589 ! inflammatory bowel disease [Term] *************** *** 102593,102598 **** --- 102692,102699 ---- id: DOID:9822 name: partial central choroid dystrophy + comment: OMIM mapping confirmed by DO. [SN]. synonym: "Choroidal dystrophy, central areolar" EXACT [MTHICD9_2006:363.53] xref: ICD9CM_2010:363.53 + xref: OMIM:613105 xref: SNOMEDCT_2010_1_31:193468002 xref: SNOMEDCT_2010_1_31:80526002 |