From: Seth C. <sjc...@us...> - 2011-04-30 07:03:02
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Update of /cvsroot/obo/obo/ontology/phenotype In directory vz-cvs-4.sog:/tmp/cvs-serv9969/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 1.351 retrieving revision 1.352 diff -C2 -d -r1.351 -r1.352 *** human_disease.obo 29 Apr 2011 08:07:32 -0000 1.351 --- human_disease.obo 30 Apr 2011 07:02:54 -0000 1.352 *************** *** 1,4 **** format-version: 1.2 ! date: 28:04:2011 16:35 auto-generated-by: OBO-Edit 2.1-beta6 subsetdef: GOLD "GOLD" --- 1,4 ---- format-version: 1.2 ! date: 29:04:2011 16:17 auto-generated-by: OBO-Edit 2.1-beta6 subsetdef: GOLD "GOLD" *************** *** 8,12 **** subsetdef: tick-borne_infectious_disease "tick-borne infectious disease" subsetdef: zoonotic_infectious_disease "zoonotic infectious disease" ! default-namespace: disease_ontology remark: This is an alpha version and is only for experimental implementation. This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/. --- 8,12 ---- subsetdef: tick-borne_infectious_disease "tick-borne infectious disease" subsetdef: zoonotic_infectious_disease "zoonotic infectious disease" ! synonymtypedef: systematic_synonym "Systematic synonym" EXACT remark: This is an alpha version and is only for experimental implementation. This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/. *************** *** 2804,2807 **** --- 2804,2808 ---- xref: MSH:D011125 xref: OMIM:175100 + xref: OMIM:608456 is_a: DOID:0050177 ! simple genetic disease *************** *** 4501,4504 **** --- 4502,4575 ---- [Term] + id: DOID:0050600 + name: ABCD syndrome + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "ALBINISM, BLACK LOCK, CELL MIGRATION DISORDER OF THE NEUROCYTES OF THE GUT, AND DEAFNESS" EXACT [] + xref: OMIM:600501 + is_a: DOID:0050177 ! simple genetic disease + created_by: snadendla + creation_date: 2011-04-29T09:39:40Z + + [Term] + id: DOID:0050601 + name: ADULT syndrome + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME" EXACT [] + xref: OMIM:103285 + is_a: DOID:0050177 ! simple genetic disease + created_by: snadendla + creation_date: 2011-04-29T09:46:10Z + + [Term] + id: DOID:0050602 + name: triple-A syndrome + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "Achalasia-Addisonianism-Alacrimia syndrome" EXACT [] + synonym: "Allgrove Syndrome" EXACT [] + xref: OMIM:231550 + is_a: DOID:0050177 ! simple genetic disease + created_by: snadendla + creation_date: 2011-04-29T10:04:36Z + + [Term] + id: DOID:0050603 + name: acheiropody + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "Acheiropodia" EXACT [] + synonym: "Horn-Kolb Syndrome" EXACT [] + xref: OMIM:200500 + is_a: DOID:2256 ! osteochondrodysplasia + created_by: snadendla + creation_date: 2011-04-29T10:14:29Z + + [Term] + id: DOID:0050604 + name: acrocapitofemoral dysplasia + comment: OMIM mapping confirmed by DO. [SN]. + xref: OMIM:607778 + is_a: DOID:2256 ! osteochondrodysplasia + created_by: snadendla + creation_date: 2011-04-29T10:41:26Z + + [Term] + id: DOID:0050605 + name: acrodermatitis enteropathica + xref: OMIM:201100 + is_a: DOID:896 ! inborn errors metal metabolism + created_by: snadendla + creation_date: 2011-04-29T10:52:10Z + + [Term] + id: DOID:0050606 + name: acrokeratosis verruciformis + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "Acrokeratosis verruciformis of Hopf" EXACT [] + synonym: "Hopf disease" EXACT [] + xref: OMIM:101900 + is_a: DOID:161 ! keratosis + created_by: snadendla + creation_date: 2011-04-29T11:02:32Z + + [Term] id: DOID:0060000 name: infective endocarditis *************** *** 5311,5314 **** --- 5382,5387 ---- name: acromesomelic dysplasia, Maroteaux type def: "An acromesomelic dysplasia that has_material_basis_in mutation in NPR-B receptor which results_in severe dwarfism, abnormalities of the located_in vertebral column and shortening of middle and distal segments in the located_in limb." [pdf:http\://www.orpha.net/data/patho/GB/uk-Acromesomelic%2805%29.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?PageID=4&diseaseID=507, url:http\://www.ncbi.nlm.nih.gov/omim/602875] + comment: OMIM mapping confirmed by DO. [SN]. + xref: OMIM:602875 is_a: DOID:0080049 ! acromesomelic dysplasia *************** *** 5317,5320 **** --- 5390,5396 ---- name: acromesomelic dysplasia, Hunter-Thompson type def: "An acromesomelic dysplasia that has_material_basis_in mutation in AMDH gene which results_in normal axial skeleton but fused bones in the located_in hand and located_in foot." [pdf:http\://www.orpha.net/data/patho/GB/uk-hunter05.pdf, url:http\://rarediseases.info.nih.gov/GARD/Disease.aspx?diseaseID=506, url:http\://www.ncbi.nlm.nih.gov/omim/201250] + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "acromesomelic dwarfism" EXACT [] + xref: OMIM:201250 is_a: DOID:0080049 ! acromesomelic dysplasia *************** *** 5323,5326 **** --- 5399,5404 ---- name: acromesomelic dysplasia, Grebe type def: "An acromesomelic dysplasia that has_material_basis_in mutation in CDMP-1 which results_in micromelia, absence of middle and proximal phalanges and some metacarpal and metatarsal bones." [pdf:http\://www.orpha.net/data/patho/Pro/en/AcromesomelicDysplasiaGrebe-FRenPro2010.pdf, url:http\://rarediseases.info.nih.gov/GARD/Condition/1300/Chondrodysplasia_Grebe_type.aspx, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=2098] + synonym: "GREBE CHONDRODYSPLASIA" EXACT [] + xref: OMIM:200700 is_a: DOID:0080049 ! acromesomelic dysplasia *************** *** 5337,5341 **** --- 5415,5421 ---- name: achondrogenesis type IA def: "An achondrogenesis that results_in abnormal ossification of the located_in vertebral column and located_in spine." [url:http\://emedicine.medscape.com/article/941176-overview, url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1A, url:http\://www.healthline.com/galecontent/achondrogenesis] + comment: OMIM mapping confirmed by DO. [SN]. synonym: "achondrogenesis Houston-Harris type" EXACT [] + xref: OMIM:200600 is_a: DOID:0080043 ! achondrogenesis *************** *** 5344,5348 **** --- 5424,5430 ---- name: achondrogenesis type IB def: "An achondrogenesis that has_material_basis_in mutation in the SLC26A2 gene which results_in umbilical or inguinal hernia and a prominent rounded abdomen." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_1B, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis, url:http\://www.ncbi.nlm.nih.gov/books/NBK1516/] + comment: OMIM mapping confirmed by DO. [SN]. synonym: "achondrogenesis Fraccaro type" EXACT [] + xref: OMIM:600972 is_a: DOID:0080043 ! achondrogenesis *************** *** 5351,5354 **** --- 5433,5438 ---- name: achondrogenesis type II def: "An achondrogenesis that has_material_basis_in mutations in the COL2A1 gene which results_in underdeveloped lungs, hydrops fetalis,a prominent forehead and abnormal ossification of the located_in vertebral column and located_in pelvis." [url:http\://en.wikipedia.org/wiki/Achondrogenesis_type_2, url:http\://ghr.nlm.nih.gov/condition/achondrogenesis, url:http\://www.healthline.com/galecontent/achondrogenesis] + comment: OMIM mapping confirmed by DO. [SN]. + xref: OMIM:200610 is_a: DOID:0080043 ! achondrogenesis *************** *** 45278,45281 **** --- 45362,45367 ---- id: DOID:2280 name: hidradenitis suppurativa + comment: OMIM mapping confirmed by DO. [SN]. + synonym: "Acne inversa, familial" EXACT [] synonym: "Hidradenitis suppurativa" EXACT [MTHICD9_2006:705.83] synonym: "Hidradenitis suppurativa" EXACT [SNOMEDCT_2005_07_31:156417004] *************** *** 45285,45288 **** --- 45371,45376 ---- xref: MSH2010_2010_02_22:D017497 xref: OMIM:142690 + xref: OMIM:613736 + xref: OMIM:613737 xref: SNOMEDCT_2010_1_31:156417004 xref: SNOMEDCT_2010_1_31:201204008 *************** *** 61665,61670 **** xref: NCI2009_04D:C40408 xref: UMLS_CUI:C1511322 ! is_a: DOID:1625 ! breast adenoma ! is_a: DOID:452 ! mixed salivary gland tumor [Term] --- 61753,61757 ---- xref: NCI2009_04D:C40408 xref: UMLS_CUI:C1511322 ! is_obsolete: true [Term] *************** *** 65302,65305 **** --- 65389,65393 ---- xref: NCI2009_04D:C35691 xref: NCI2009_04D:C8602 + xref: OMIM:181030 xref: SNOMEDCT_2010_1_31:8360001 xref: UMLS_CUI:C0026277 *************** *** 68251,68276 **** [Term] - id: DOID:4888 - name: scrofula - subset: gram-positive_bacterial_infectious_disease - synonym: "king's evil" EXACT [] - xref: MSH2010_2010_02_22:D018601 - xref: UMLS_CUI:C0242830 - is_a: DOID:0050598 ! extrapulmonary tuberculosis - - [Term] id: DOID:4889 name: lymph node tuberculosis subset: gram-positive_bacterial_infectious_disease synonym: "Lymph Node Tuberculosis" EXACT [NCI2004_11_17:C26896] synonym: "Tuberculous adenitis" EXACT [MTHICD9_2006:017.2] synonym: "Tuberculous adenitis" EXACT [SNOMEDCT_2005_07_31:186260002] synonym: "Tuberculous lymphadenopathy" EXACT [SNOMEDCT_2005_07_31:10893003] xref: MSH2010_2010_02_22:D014388 xref: NCI2009_04D:C26896 xref: SNOMEDCT_2010_1_31:10893003 xref: SNOMEDCT_2010_1_31:186260002 xref: UMLS_CUI:C0041316 ! is_obsolete: true [Term] --- 68339,68360 ---- [Term] id: DOID:4889 name: lymph node tuberculosis + alt_id: DOID:4888 subset: gram-positive_bacterial_infectious_disease + synonym: "king's evil" EXACT [] synonym: "Lymph Node Tuberculosis" EXACT [NCI2004_11_17:C26896] + synonym: "scrofula" EXACT [] synonym: "Tuberculous adenitis" EXACT [MTHICD9_2006:017.2] synonym: "Tuberculous adenitis" EXACT [SNOMEDCT_2005_07_31:186260002] synonym: "Tuberculous lymphadenopathy" EXACT [SNOMEDCT_2005_07_31:10893003] xref: MSH2010_2010_02_22:D014388 + xref: MSH2010_2010_02_22:D018601 xref: NCI2009_04D:C26896 xref: SNOMEDCT_2010_1_31:10893003 xref: SNOMEDCT_2010_1_31:186260002 xref: UMLS_CUI:C0041316 ! xref: UMLS_CUI:C0242830 ! is_a: DOID:0050598 ! extrapulmonary tuberculosis [Term] *************** *** 75901,75905 **** xref: OMIM:154400 xref: UMLS_CUI:C1332140 ! is_a: DOID:225 ! syndrome [Term] --- 75985,75989 ---- xref: OMIM:154400 xref: UMLS_CUI:C1332140 ! is_obsolete: true [Term] *************** *** 81458,81464 **** [Term] id: DOID:6683 ! name: Aarskog syndrome def: "A simple genetic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001654.htm] comment: OMIM mapping confirmed by DO. [SN]. synonym: "Aarskog syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:14921002] synonym: "Aarskog syndrome [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:205809002] --- 81542,81549 ---- [Term] id: DOID:6683 ! name: Aarskog-Scott syndrome def: "A simple genetic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. Inherited means that it is passed down through families." [url:http\://www.nlm.nih.gov/medlineplus/ency/article/001654.htm] comment: OMIM mapping confirmed by DO. [SN]. + synonym: "Aarskog syndrome" EXACT [] synonym: "Aarskog syndrome (disorder)" EXACT [SNOMEDCT_2005_07_31:14921002] synonym: "Aarskog syndrome [dup] (disorder)" EXACT [SNOMEDCT_2005_07_31:205809002] *************** *** 104043,104046 **** --- 104128,104135 ---- [Typedef] + id: occurs_with + name: occurs_with + + [Typedef] id: realized_by_supression_with name: realized_by_supression_with Index: worm_phenotype.obo =================================================================== RCS file: /cvsroot/obo/obo/ontology/phenotype/worm_phenotype.obo,v retrieving revision 1.166 retrieving revision 1.167 diff -C2 -d -r1.166 -r1.167 *** worm_phenotype.obo 29 Apr 2011 08:07:33 -0000 1.166 --- worm_phenotype.obo 30 Apr 2011 07:02:59 -0000 1.167 *************** *** 1,4 **** format-version: 1.2 ! date: 28:04:2011 14:52 saved-by: garys auto-generated-by: OBO-Edit 1.002 --- 1,4 ---- format-version: 1.2 ! date: 29:04:2011 14:53 saved-by: garys auto-generated-by: OBO-Edit 1.002 *************** *** 5296,5300 **** synonym: "arrest in meiosis I" RELATED [] synonym: "Emo" BROAD three_letter_name [] ! is_a: WBPhenotype:0000977 ! somatic gonad morphology variant --- 5296,5300 ---- synonym: "arrest in meiosis I" RELATED [] synonym: "Emo" BROAD three_letter_name [] ! is_a: WBPhenotype:0001260 ! oocyte morphology variant *************** *** 13344,13348 **** def: "An increased number of oocytes are retained in the gonad without becoming endomitotic, compared to control. " [WB:WBPaper00006281, WB:WBPaper00030855] synonym: "oocyte number increased" RELATED [] ! is_a: WBPhenotype:0000977 ! somatic gonad morphology variant --- 13344,13348 ---- def: "An increased number of oocytes are retained in the gonad without becoming endomitotic, compared to control. " [WB:WBPaper00006281, WB:WBPaper00030855] synonym: "oocyte number increased" RELATED [] ! is_a: WBPhenotype:0001260 ! oocyte morphology variant *************** *** 15329,15333 **** name: oocytes stacked def: "Oocytes are found one on top of the other in the dorsal to ventral orientation in the gonad." [WB:WBPerson557] ! is_a: WBPhenotype:0000977 ! somatic gonad morphology variant --- 15329,15333 ---- name: oocytes stacked def: "Oocytes are found one on top of the other in the dorsal to ventral orientation in the gonad." [WB:WBPerson557] ! is_a: WBPhenotype:0001260 ! oocyte morphology variant *************** *** 15336,15340 **** name: oocytes disorganized def: "Oocytes are no longer arranged in the gonad in the same manner as control animals." [WB:WBPerson557] ! is_a: WBPhenotype:0000977 ! somatic gonad morphology variant --- 15336,15340 ---- name: oocytes disorganized def: "Oocytes are no longer arranged in the gonad in the same manner as control animals." [WB:WBPerson557] ! is_a: WBPhenotype:0001260 ! oocyte morphology variant *************** *** 15474,15478 **** name: oocyte number decreased def: "A decreased number of oocytes are retained in the gonad compared to control." [WB:WBPerson557] ! is_a: WBPhenotype:0000977 ! somatic gonad morphology variant --- 15474,15478 ---- name: oocyte number decreased def: "A decreased number of oocytes are retained in the gonad compared to control." [WB:WBPerson557] ! is_a: WBPhenotype:0001260 ! oocyte morphology variant *************** *** 15506,15509 **** --- 15506,15546 ---- [Term] + id: WBPhenotype:0001949 + name: diakinesis region organization variant + def: "Animals exhibit variations from control animals in the organization of the germ cell nuclei in the gonad that are in the diakinesis stage. In C. elegans the diakinesis region occurs in the proximal gonad arm and is preceded by the diplotene region. In the diakinesis region oocytes arrest until oocyte maturation occurs." [WB:WBPerson557] + is_a: WBPhenotype:0001355 ! gonad morphology variant + is_a: WBPhenotype:0001948 ! diakinesis progression during oogenesis variant + + + [Term] + id: WBPhenotype:0001950 + name: diplotene region organization variant + def: "Animals exhibit variations from control animals in the organization of the germ cell nuclei in the gonad that are in the diplotene stage. In C. elegans the diplotene region follows the pachytene region and occurs after the loop in the gonad arm (the turn into the proximal gonad arm). In the diplotene region cells become organized into a single file." [WB:WBPerson557] + is_a: WBPhenotype:0001355 ! gonad morphology variant + is_a: WBPhenotype:0001947 ! diplotene progression during oogenesis variant + + + [Term] + id: WBPhenotype:0001951 + name: pachytene region organization variant + def: "Animals exhibit variations from control animals in the organization of the germ cell nuclei in the gonad that are in the pachytene stage. In C. elegans the pachytene region lies just distal to the germline's transition zone, where germ cells coordinately switch into the leptotene/zygotene stage from the premeiosis stage (WormAtlas)." [WB:WBPerson557] + is_a: WBPhenotype:0001355 ! gonad morphology variant + + + [Term] + id: WBPhenotype:0001952 + name: germline nuclear positioning variant + def: "Variations in the directed movement/or positioning of a nucleus to a specific location within the germline compared to control." [WB:WBPerson557] + is_a: WBPhenotype:0000511 ! nuclear positioning variant + + + [Term] + id: WBPhenotype:0001953 + name: nuclear fallout + def: "Nuclei have fallen out of developing compartments in the germline into the rachis." [WB:WBPerson557] + is_a: WBPhenotype:0001952 ! germline nuclear positioning variant + + + [Term] id: WBPhenotype:0004001 name: hermaphrodite mating variant |