From: Seth C. <sjc...@us...> - 2010-09-30 07:02:03
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Update of /cvsroot/obo/obo/ontology/phenotype In directory sfp-cvsdas-4.v30.ch3.sourceforge.com:/tmp/cvs-serv13361/phenotype Modified Files: human_disease.obo mosquito_insecticide_resistance.obo worm_phenotype.obo Log Message: Automated file update Index: human_disease.obo =================================================================== RCS file: /cvsroot/obo/obo/ontology/phenotype/human_disease.obo,v retrieving revision 1.276 retrieving revision 1.277 diff -C2 -d -r1.276 -r1.277 *** human_disease.obo 29 Sep 2010 07:02:36 -0000 1.276 --- human_disease.obo 30 Sep 2010 07:01:53 -0000 1.277 *************** *** 1,4 **** format-version: 1.2 ! date: 28:09:2010 17:16 auto-generated-by: OBO-Edit 2.1-beta4 subsetdef: gram-negative_bacterial_infectious_disease "gram-negative bacterial infectious disease" --- 1,4 ---- format-version: 1.2 ! date: 29:09:2010 17:02 auto-generated-by: OBO-Edit 2.1-beta4 subsetdef: gram-negative_bacterial_infectious_disease "gram-negative bacterial infectious disease" *************** *** 1094,1097 **** --- 1094,1098 ---- def: "A idiopathic interstitial pneumonia which is a distinctive type of chronic fibrosing interstitial pneumonia with thick scarring in the lung creating a honeycomb appearance. The main symptoms start insidiously as shortness of breath on exertion, cough, and diminished stamina. Other common complaints include weight loss and fatigue. The level of oxygen in the blood decreases, and the skin may take on a bluish tinge (called cyanosis) and the ends of the fingers may become thick or club-shape. In most people, symptoms worsen over a period ranging from about 6 months to several years." [url:http\://www.merck.com/mmhe/sec04/ch050/ch050b.html?qt=idiopathic%20interstitial%20pneumonia&alt=sh, url:http\://www.ncbi.nlm.nih.gov/pubmed/11790668] synonym: "cryptogenic fibrosing alveolitis" EXACT [] + xref: MSH:D054990 is_a: DOID:2797 ! idiopathic interstitial pneumonia *************** *** 3214,3223 **** is_a: DOID:0050325 ! genetic disorder is_a: DOID:2121 ! ectodermal dysplasia - created_by: snadendla - creation_date: 2010-09-28T03:44:05Z [Term] id: DOID:0050447 ! name: autosomal recessive hypohidrotic ectodermal dysplasia synonym: "Anhidridic Ectodermal Dysplasia, Autosomal Recessive" EXACT [] synonym: "Autosomal Recessive Anhidrotic Ectodermal Dysplasia" EXACT [] --- 3215,3222 ---- is_a: DOID:0050325 ! genetic disorder is_a: DOID:2121 ! ectodermal dysplasia [Term] id: DOID:0050447 ! name: autosomal recessive hypohidrotic ectodermal dysplasia synonym: "Anhidridic Ectodermal Dysplasia, Autosomal Recessive" EXACT [] synonym: "Autosomal Recessive Anhidrotic Ectodermal Dysplasia" EXACT [] *************** *** 3228,3233 **** is_a: DOID:0050325 ! genetic disorder is_a: DOID:2121 ! ectodermal dysplasia - created_by: snadendla - creation_date: 2010-09-28T03:49:27Z [Term] --- 3227,3230 ---- *************** *** 3240,3245 **** xref: OMIM:193900 is_a: DOID:1698 ! genetic skin disease - created_by: snadendla - creation_date: 2010-09-28T03:56:47Z [Term] --- 3237,3240 ---- *************** *** 3255,3260 **** is_a: DOID:2121 ! ectodermal dysplasia is_a: DOID:4123 ! nail disease - created_by: snadendla - creation_date: 2010-09-28T04:07:05Z [Term] --- 3250,3253 ---- *************** *** 3265,3270 **** xref: OMIM:263800 is_a: DOID:447 ! inborn errors renal tubular transport ! created_by: snadendla ! creation_date: 2010-09-28T04:33:07Z [Term] --- 3258,3451 ---- xref: OMIM:263800 is_a: DOID:447 ! inborn errors renal tubular transport ! ! [Term] ! id: DOID:0050451 ! name: Brugada syndrome ! xref: MSH:D053840 ! is_a: DOID:0050325 ! genetic disorder ! ! [Term] ! id: DOID:0050452 ! name: mevalonic aciduria ! synonym: "Mevalonate Kinase Deficiency" EXACT [] ! xref: MSH:D054078 ! xref: OMIM:610377 ! is_a: DOID:906 ! peroxisomal disorder ! ! [Term] ! id: DOID:0050453 ! name: lissencephaly ! xref: MSH:D054082 ! is_a: DOID:2490 ! congenital nervous system abnormality ! ! [Term] ! id: DOID:0050454 ! name: periventricular nodular heterotopia ! xref: MSH:D054091 ! is_a: DOID:2490 ! congenital nervous system abnormality ! ! [Term] ! id: DOID:0050455 ! name: arachnodactyly ! xref: MSH:D054119 ! is_a: DOID:652 ! congenital musculoskeletal abnormality ! ! [Term] ! id: DOID:0050456 ! name: Buruli ulcer ! synonym: "Bairnsdale ulcer" EXACT [] ! synonym: "Searl ulcer" EXACT [] ! synonym: "Searle's ulcer" EXACT [] ! xref: MSH:D054312 ! is_a: DOID:412 ! atypical Mycobacterium infectious disease ! ! [Term] ! id: DOID:0050457 ! name: Sertoli cell-only syndrome ! synonym: "DEL CASTILLO SYNDROME" EXACT [] ! synonym: "Germinal Cell Aplasia" EXACT [] ! xref: MSH:D054331 ! xref: OMIM:305700 ! is_a: DOID:12336 ! male infertility ! ! [Term] ! id: DOID:0050458 ! name: juvenile myelomonocytic leukemia ! xref: MSH:D054429 ! xref: OMIM:607785 ! is_a: DOID:4972 ! myelodysplastic myeloproliferative cancer ! ! [Term] ! id: DOID:0050459 ! name: hyperphosphatemia ! xref: MSH:D054559 ! is_a: DOID:2485 ! phosphorus metabolism disorder ! ! [Term] ! id: DOID:0050460 ! name: Wolf-Hirschhorn Syndrome ! alt_id: DOID:6684 ! synonym: "4p deletion syndrome" EXACT [] ! synonym: "CHROMOSOME 4p16.3 DELETION SYNDROME" EXACT [] ! synonym: "PITT SYNDROME" EXACT [] ! synonym: "Pitt-Rogers-Danks Syndrome" EXACT [] ! xref: MSH:D054877 ! xref: OMIM:194190 ! xref: UMLS_CUI:C0795810 ! is_a: DOID:1086 ! congenital chromosomal disease ! ! [Term] ! id: DOID:0050461 ! name: aspartylglucosaminuria ! synonym: "ASPARTYLGLUCOSAMINIDASE DEFICIENCY" EXACT [] ! xref: MSH:D054880 ! xref: OMIM:208400 ! is_a: DOID:3211 ! lysosomal storage disease ! ! [Term] ! id: DOID:0050462 ! name: Antley-Bixler syndrome phenotype ! synonym: "trapezoidocephaly-synostosis syndrome" EXACT [] ! xref: MSH:D054882 ! xref: OMIM:207410 ! is_a: DOID:652 ! congenital musculoskeletal abnormality ! ! [Term] ! id: DOID:0050463 ! name: campomelic dysplasia ! synonym: "Acampomelic Campomelic Dysplasia" EXACT [] ! xref: MSH:D055036 ! xref: OMIM:114290 ! is_a: DOID:652 ! congenital musculoskeletal abnormality ! ! [Term] ! id: DOID:0050464 ! name: Farber lipogranulomatosis ! synonym: "Acid Ceramidase Deficiency" EXACT [] ! synonym: "Farber Disease" EXACT [] ! synonym: "N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY" EXACT [] ! xref: MSH:D055577 ! xref: OMIM:228000 ! is_a: DOID:3211 ! lysosomal storage disease ! ! [Term] ! id: DOID:0050465 ! name: Muir-Torre syndrome ! xref: MSH:D055653 ! xref: OMIM:158320 ! is_a: DOID:4840 ! malignant sebaceous neoplasm ! ! [Term] ! id: DOID:0050466 ! name: Loeys-Dietz syndrome ! xref: MSH:D055947 ! is_a: DOID:0050325 ! genetic disorder ! ! [Term] ! id: DOID:0050467 ! name: erythrokeratodermia variabilis ! synonym: "Erythrokeratodermia Figurata Variabilis" EXACT [] ! synonym: "Greither Disease" EXACT [] ! xref: MSH:D056266 ! xref: OMIM:133200 ! is_a: DOID:1698 ! genetic skin disease ! ! [Term] ! id: DOID:0050468 ! name: Yellow nail syndrome ! xref: MSH:D056684 ! is_a: DOID:225 ! syndrome ! is_a: DOID:4123 ! nail disease ! ! [Term] ! id: DOID:0050469 ! name: Costello syndrome ! synonym: "Faciocutaneoskeletal Syndrome" EXACT [] ! synonym: "FCS SYNDROME" EXACT [] ! xref: MSH:D056685 ! xref: OMIM:218040 ! is_a: DOID:759 ! congenital abnormality ! ! [Term] ! id: DOID:0050470 ! name: Donohue Syndrome ! synonym: "Leprechaunism" EXACT [] ! xref: MSH:D056731 ! xref: OMIM:D056731 ! is_a: DOID:0050325 ! genetic disorder ! ! [Term] ! id: DOID:0050471 ! name: Carney complex ! synonym: "Carney Complex, Type 1" EXACT [] ! synonym: "Carney Complex, Type 2" EXACT [] ! synonym: "Carney Syndrome" EXACT [] ! synonym: "LAMB Syndrome" EXACT [] ! xref: MSH:D056733 ! xref: OMIM:160980 ! xref: OMIM:605244 ! is_a: DOID:0050325 ! genetic disorder ! ! [Term] ! id: DOID:0050472 ! name: monilethrix ! xref: MSH:D056734 ! xref: OMIM:158000 ! is_a: DOID:0050325 ! genetic disorder ! ! [Term] ! id: DOID:0050473 ! name: Alstrom syndrome ! xref: MSH:D056769 ! xref: OMIM:203800 ! is_a: DOID:0050325 ! genetic disorder ! ! [Term] ! id: DOID:0050474 ! name: Netherton syndrome ! synonym: "Netherton Disease" EXACT [] ! xref: MSH:D056770 ! xref: OMIM:D056770 ! is_a: DOID:1696 ! congenital ichthyosiform erythroderma [Term] *************** *** 15109,15113 **** xref: UMLS_CUI:C0025958 is_a: DOID:0050324 ! physical disorder ! is_a: DOID:0050325 ! genetic disorder [Term] --- 15290,15294 ---- xref: UMLS_CUI:C0025958 is_a: DOID:0050324 ! physical disorder ! is_a: DOID:2490 ! congenital nervous system abnormality [Term] *************** *** 60996,61001 **** [Term] id: DOID:14681 ! name: SILVER-RUSSELL DWARFISM synonym: "Russell-Silver syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:15069006] xref: MSH2010_2010_02_22:D056730 xref: OMIM2009_05_01:180860 --- 61177,61183 ---- [Term] id: DOID:14681 ! name: Silver-Russell syndrome synonym: "Russell-Silver syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:15069006] + synonym: "Silver Russell Dwarfism" EXACT [] xref: MSH2010_2010_02_22:D056730 xref: OMIM2009_05_01:180860 *************** *** 61003,61007 **** xref: SNOMEDCT_2010_1_31:15069006 xref: UMLS_CUI:C0175693 ! is_obsolete: true [Term] --- 61185,61189 ---- xref: SNOMEDCT_2010_1_31:15069006 xref: UMLS_CUI:C0175693 ! is_a: DOID:1086 ! congenital chromosomal disease [Term] *************** *** 61213,61216 **** --- 61395,61399 ---- synonym: "ketotic II glycinemia" EXACT [] synonym: "PROPIONYL-CoA CARBOXYLASE DEFICIENCY" EXACT [] + xref: MSH:D056693 xref: OMIM:606054 xref: UMLS_CUI:C0220735 *************** *** 61450,61454 **** xref: OMIM2009_05_01:156580 xref: UMLS_CUI:C0220693 ! is_a: DOID:10907 ! microcephaly [Term] --- 61633,61637 ---- xref: OMIM2009_05_01:156580 xref: UMLS_CUI:C0220693 ! is_a: DOID:0050325 ! genetic disorder [Term] *************** *** 62137,62141 **** [Term] id: DOID:14791 ! name: AMAUROSIS CONGENITA OF LEBER I synonym: "Leber's amaurosis (disorder)" EXACT [SNOMEDCT_2005_07_31:193413001] synonym: "Leber's congenital amaurosis" EXACT [CSP2005:1114-9698] --- 62320,62325 ---- [Term] id: DOID:14791 ! name: Leber congenital amaurosis ! synonym: "AMAUROSIS CONGENITA OF LEBER I" EXACT [] synonym: "Leber's amaurosis (disorder)" EXACT [SNOMEDCT_2005_07_31:193413001] synonym: "Leber's congenital amaurosis" EXACT [CSP2005:1114-9698] *************** *** 70279,70283 **** xref: NCI2009_04D:C35784 xref: UMLS_CUI:C1335013 ! is_a: DOID:421 ! hair disease [Term] --- 70463,70467 ---- xref: NCI2009_04D:C35784 xref: UMLS_CUI:C1335013 ! is_obsolete: true [Term] *************** *** 101782,101786 **** xref: SNOMEDCT_2010_1_31:53602002 xref: UMLS_CUI:C0020678 ! is_a: DOID:2102 ! non-neoplastic hair disorder [Term] --- 101966,101970 ---- xref: SNOMEDCT_2010_1_31:53602002 xref: UMLS_CUI:C0020678 ! is_a: DOID:421 ! hair disease [Term] *************** *** 105389,105393 **** xref: UMLS_CUI:C0206684 is_a: DOID:3695 ! adenocarcinoma of the adnexa ! is_a: DOID:4840 ! malignant Sebaceous neoplasm [Term] --- 105573,105577 ---- xref: UMLS_CUI:C0206684 is_a: DOID:3695 ! adenocarcinoma of the adnexa ! is_a: DOID:4840 ! malignant sebaceous neoplasm [Term] *************** *** 105402,105406 **** [Term] id: DOID:4840 ! name: malignant Sebaceous neoplasm synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:188083002] synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:255094009] --- 105586,105590 ---- [Term] id: DOID:4840 ! name: malignant sebaceous neoplasm synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:188083002] synonym: "malignant neoplasm of sebaceous gland" EXACT [SNOMEDCT_2005_07_31:255094009] *************** *** 106995,106999 **** name: myelodysplastic myeloproliferative cancer alt_id: DOID:6470 ! def: "A myeloma that is located_in the bone marrow and results_in the production of too many white blood cells. The cancer possess both dysplastic and proliferative features but are not properly classified as either." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient/print] synonym: "myelodysplastic myeloproliferative disease" RELATED [] synonym: "Myelodysplastic/myeloproliferative disease (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397336008] --- 107179,107183 ---- name: myelodysplastic myeloproliferative cancer alt_id: DOID:6470 ! def: "A bone marrow cancer that is located_in the bone marrow and results_in the production of too many white blood cells. The cancer possess both dysplastic and proliferative features but are not properly classified as either." [url:http\://www.cancer.gov/cancertopics/pdq/treatment/mds-mpd/Patient/print] synonym: "myelodysplastic myeloproliferative disease" RELATED [] synonym: "Myelodysplastic/myeloproliferative disease (morphologic abnormality)" EXACT [SNOMEDCT_2005_07_31:397336008] *************** *** 107005,107009 **** xref: SNOMEDCT_2010_1_31:397336008 xref: UMLS_CUI:C1301355 ! is_a: DOID:0070004 ! myeloma [Term] --- 107189,107193 ---- xref: SNOMEDCT_2010_1_31:397336008 xref: UMLS_CUI:C1301355 ! is_a: DOID:4960 ! bone marrow cancer [Term] *************** *** 125575,125584 **** [Term] - id: DOID:6684 - name: 4p deletion syndrome - xref: UMLS_CUI:C0795810 - is_a: DOID:225 ! syndrome - - [Term] id: DOID:6685 name: COFS syndrome --- 125759,125762 ---- *************** *** 125610,125614 **** [Term] id: DOID:6688 ! name: canale-Smith syndrome synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [CSP2005:0427-1178] synonym: "autoimmune lymphoproliferative syndrome" EXACT [CSP2005:1560-5548] --- 125788,125792 ---- [Term] id: DOID:6688 ! name: Canale-Smith syndrome synonym: "ALPS (autoimmune lymphoproliferative syndrome)" EXACT [CSP2005:0427-1178] synonym: "autoimmune lymphoproliferative syndrome" EXACT [CSP2005:1560-5548] *************** *** 127538,127542 **** xref: NCI2009_04D:C39574 xref: UMLS_CUI:C1519707 ! is_a: DOID:6688 ! canale-Smith syndrome [Term] --- 127716,127720 ---- xref: NCI2009_04D:C39574 xref: UMLS_CUI:C1519707 ! is_a: DOID:6688 ! Canale-Smith syndrome [Term] *************** *** 138386,138390 **** xref: NCI2009_04D:C39577 xref: UMLS_CUI:C1519711 ! is_a: DOID:6688 ! canale-Smith syndrome [Term] --- 138564,138568 ---- xref: NCI2009_04D:C39577 xref: UMLS_CUI:C1519711 ! is_a: DOID:6688 ! Canale-Smith syndrome [Term] *************** *** 142003,142007 **** xref: NCI2009_04D:C39575 xref: UMLS_CUI:C1519708 ! is_a: DOID:6688 ! canale-Smith syndrome [Term] --- 142181,142185 ---- xref: NCI2009_04D:C39575 xref: UMLS_CUI:C1519708 ! is_a: DOID:6688 ! Canale-Smith syndrome [Term] *************** *** 142010,142014 **** xref: NCI2009_04D:C39576 xref: UMLS_CUI:C1519709 ! is_a: DOID:6688 ! canale-Smith syndrome [Term] --- 142188,142192 ---- xref: NCI2009_04D:C39576 xref: UMLS_CUI:C1519709 ! is_a: DOID:6688 ! Canale-Smith syndrome [Term] *************** *** 153247,153251 **** [Term] id: DOID:9267 ! name: disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia synonym: "disorder of the urea cycle metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:36444000] synonym: "disorder of urea cycle metabolism" EXACT [ICD9CM_2006:270.6] --- 153425,153430 ---- [Term] id: DOID:9267 ! name: inborn urea cycle disorder ! synonym: "disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia" EXACT [] synonym: "disorder of the urea cycle metabolism (disorder)" EXACT [SNOMEDCT_2005_07_31:36444000] synonym: "disorder of urea cycle metabolism" EXACT [ICD9CM_2006:270.6] *************** *** 153357,153361 **** xref: UMLS_CUI:C0175683 is_a: DOID:889 ! inborn metabolic brain disease ! is_a: DOID:9267 ! disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia [Term] --- 153536,153540 ---- xref: UMLS_CUI:C0175683 is_a: DOID:889 ! inborn metabolic brain disease ! is_a: DOID:9267 ! inborn urea cycle disorder [Term] *************** *** 153438,153442 **** xref: UMLS_CUI:C0268548 is_a: DOID:889 ! inborn metabolic brain disease ! is_a: DOID:9267 ! disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia [Term] --- 153617,153621 ---- xref: UMLS_CUI:C0268548 is_a: DOID:889 ! inborn metabolic brain disease ! is_a: DOID:9267 ! inborn urea cycle disorder [Term] Index: worm_phenotype.obo =================================================================== RCS file: /cvsroot/obo/obo/ontology/phenotype/worm_phenotype.obo,v retrieving revision 1.152 retrieving revision 1.153 diff -C2 -d -r1.152 -r1.153 *** worm_phenotype.obo 21 Sep 2010 07:02:07 -0000 1.152 --- worm_phenotype.obo 30 Sep 2010 07:01:54 -0000 1.153 *************** *** 1,4 **** format-version: 1.2 ! date: 20:09:2010 16:31 saved-by: garys auto-generated-by: OBO-Edit 1.002 --- 1,4 ---- format-version: 1.2 ! date: 29:09:2010 15:47 saved-by: garys auto-generated-by: OBO-Edit 1.002 *************** *** 15265,15269 **** id: WBPhenotype:0001920 name: twisted pharynx ! def: "The growth of pharyngeal components occurs in a radial fashion around the longitudinal axis of the worm as demonstrated by bent radial contractile arrays within the pharyngeal muscle cells. The defect is more pronounced as development progresses resulting in a more obvious twisting phenotype. Depending on the allele, the twist can be right-handed or left-handed" [WB:WBPaper00030736, WB:WBPaper00037071, WB:WBPerson712] synonym: "pharynx twisted" RELATED [] synonym: "Twp" RELATED [] --- 15265,15269 ---- id: WBPhenotype:0001920 name: twisted pharynx ! def: "The growth of pharyngeal components occurs in a radial fashion around the longitudinal axis of the worm as demonstrated by bent radial contractile arrays within the pharyngeal muscle cells. The defect is more pronounced as development progresses resulting in a more obvious twisting phenotype. Depending on the allele, the twist can be right-handed or left-handed" [WB:WBPaper00030736, WB:WBPerson712] synonym: "pharynx twisted" RELATED [] synonym: "Twp" RELATED [] |