diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index 5563da24..d7580426 100644 --- a/src/ontology/efo-edit.owl +++ b/src/ontology/efo-edit.owl @@ -41729,7 +41729,6 @@ SubClassOf(obo:DOID_0050890 efo:EFO_0005772) # Class: obo:DOID_10113 (trypanosomiasis) -AnnotationAssertion(obo:IAO_0000115 obo:DOID_10113 "A parasitic protozoa infectious disease that involves infection caused by parasitic protozoan of the genus Trypanosoma in animals and humans.") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10113 "DOID:10113") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10113 "ICD9:086") AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_10113 "MeSH:D014352") @@ -42736,7 +42735,6 @@ SubClassOf(obo:FMA_6670 obo:UBERON_0001759) # Class: obo:FMA_66762 (synovial membrane) -AnnotationAssertion(obo:IAO_0000115 obo:FMA_66762 "The inner layer of the connective tissue that seals the joint.") AnnotationAssertion(obo:IAO_0000115 obo:FMA_66762 "The inner membrane of a joint capsule surrounding a freely movable joint. It is loosely attached to the external fibrous capsule and secretes synovial fluid. (MeSH)") AnnotationAssertion(obo:IAO_0000117 obo:FMA_66762 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref obo:FMA_66762 "MeSH:D013583") @@ -44711,7 +44709,6 @@ SubClassOf(obo:IDO_0000450 obo:BFO_0000016) # Class: obo:MA_0000191 (hippocampus) -AnnotationAssertion(obo:IAO_0000115 obo:MA_0000191 "A curved elongated ridge that extends over the floor of the descending horn of each lateral ventricle of the brain and consists of gray matter covered on the ventricular surface with white matter;nThe hippocampus is a part of the temporal lobe, which has a well established role in learning, memory and emotion.") AnnotationAssertion(obo:IAO_0000115 obo:MA_0000191 "A part of the brain consisting of a three layered cortex located in the forebrain bordering the medial surface of the lateral ventricle. The term hippocampus is often used synonymously with hippocampal formation which consists of the hippocampus proper or Cornu Ammonis, the dentate gyrus and the subiculum.") AnnotationAssertion(obo:IAO_0000117 obo:MA_0000191 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:MA_0000191 "Tomasz Adamusiak") @@ -62852,11 +62849,9 @@ SubClassOf(obo:OBA_2050333 obo:OBA_2040037) # Class: obo:OBI_0000018 (material supplier role) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0000018 "The role of a person or organisation in supplying materials such as animal subjects, reagents or other materials used in an investigation.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0000018 "James Malone (modified from original)") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0000018 "Jennifer Fostel") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_0000018 "biosource provider") -AnnotationAssertion(rdfs:label obo:OBI_0000018 "material supplier role") SubClassOf(obo:OBI_0000018 obo:BFO_0000023) SubClassOf(obo:OBI_0000018 ObjectSomeValuesFrom(obo:RO_0000052 ObjectIntersectionOf(obo:NCBITaxon_9606 obo:OBI_0000245))) @@ -62952,11 +62947,8 @@ SubClassOf(obo:OBI_0000272 obo:IAO_0000030) # Class: obo:OBI_0000275 (analyte role) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0000275 "Analyte role is a role borne by a material entity and realized by implementation of an analyte measuring assay with objective to detect the magnitude/concentration/ amount of the analyte in the entity bearing evaluant role.") -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0000275 "Analyte role is a role borne by a molecular entity and realized in an analyte assay which achieves the objective to measure the magnitude/concentration/amount of the analyte in the entity bearing evaluant role") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0000275 "James Malone") AnnotationAssertion(efo:EFO_URI obo:OBI_0000275 "http://www.ebi.ac.uk/efo/EFO_0001452") -AnnotationAssertion(rdfs:label obo:OBI_0000275 "analyte role") SubClassOf(obo:OBI_0000275 obo:BFO_0000023) # Class: obo:OBI_0000415 (polymerase chain reaction) @@ -62990,11 +62982,9 @@ SubClassOf(obo:OBI_0000512 efo:EFO_0009106) # Class: obo:OBI_0000552 (reverse transcribed polymerase chain reaction) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0000552 "Reverse transcription PCR is a process which allow amplification of cDNA during a pcr reaction while the cDNA results from a retrotranscription of messenger RNA isolated from a material entity.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0000552 "OBI Consortium") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_0000552 "RT-PCR") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_0000552 "reverse transcription polymerase chain reaction") -AnnotationAssertion(rdfs:label obo:OBI_0000552 "reverse transcription PCR") SubClassOf(obo:OBI_0000552 efo:EFO_0009107) SubClassOf(obo:OBI_0000552 ObjectSomeValuesFrom(obo:BFO_0000050 efo:EFO_0004184)) @@ -63033,9 +63023,7 @@ SubClassOf(obo:OBI_0000711 efo:EFO_0002694) # Class: obo:OBI_0000724 (Solexa sequencing assay) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0000724 "Illumina sequencing is a DNA sequencing which allows sequence identification by relying on use of DNA polymerase and reversible terminator. The methods requires immobilization of genomic DNA fragment onto a surface and a specific clonal amplification step known as bridge PCR. Reliance on reversible terminator allow cycles of DNA chain extension by DNA polymerase and imaging without the need of electrophoretic separation of newly synthesized DNA fragment as with Sanger sequencing.") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_0000724 "Solexa sequencing") -AnnotationAssertion(rdfs:label obo:OBI_0000724 "Illumina sequencing") SubClassOf(obo:OBI_0000724 obo:OBI_0000070) SubClassOf(obo:OBI_0000724 ObjectSomeValuesFrom(obo:BFO_0000055 ObjectIntersectionOf(obo:OBI_0000275 ObjectSomeValuesFrom(obo:RO_0000081 obo:CHEBI_16991)))) SubClassOf(obo:OBI_0000724 ObjectSomeValuesFrom(obo:RO_0000057 efo:EFO_0003739)) @@ -63102,9 +63090,7 @@ SubClassOf(obo:OBI_0000971 obo:OBI_0001472) # Class: obo:OBI_0000981 (agar stab specimen) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0000981 "a specimen that is output of a process that cell culture inoculated into agar for long term storage") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0000981 "Dani Welter") -AnnotationAssertion(rdfs:label obo:OBI_0000981 "agar stab specimen") SubClassOf(obo:OBI_0000981 obo:OBI_0001472) # Class: obo:OBI_0001140 (spike-in quality control role) @@ -63218,12 +63204,10 @@ SubClassOf(obo:OBI_0100026 obo:BFO_0000040) # Class: obo:OBI_0100051 (specimen) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0100051 "A material which is obtained and stored for potential use during an investigation.") AnnotationAssertion(efo:definition_citation obo:OBI_0100051 "James Malone") AnnotationAssertion(efo:definition_citation obo:OBI_0100051 "Philippe Rocca-Serra") AnnotationAssertion(oboInOwl:hasDbXref obo:OBI_0100051 "NCIt:C19157") AnnotationAssertion(oboInOwl:hasDbXref obo:OBI_0100051 "SNOMEDCT:123038009") -AnnotationAssertion(rdfs:label obo:OBI_0100051 "specimen") SubClassOf(obo:OBI_0100051 obo:BFO_0000040) # Class: obo:OBI_0200000 (data transformation) @@ -63240,26 +63224,20 @@ SubClassOf(obo:OBI_0200000 efo:EFO_0002694) # Class: obo:OBI_0200006 (biexponential transformation) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0200006 "A biexponential transformation is a data transformation that, for each (one dimensional) real number input x, outputs an approximation (found, e.g. with the Newton's method) to a solution y of the equation B(y)-x=0, where B denotes a b transformation.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0200006 "James Malone") AnnotationAssertion(efo:EFO_URI obo:OBI_0200006 "http://www.ebi.ac.uk/efo/EFO_0002031") -AnnotationAssertion(rdfs:label obo:OBI_0200006 "biexponential transformation") SubClassOf(obo:OBI_0200006 obo:OBI_0200169) # Class: obo:OBI_0200071 (loess transformation) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0200071 "A loess transformation is a data transformation that takes as input a collection of real number pairs (x, y) and, after performing (one or more) loess fittings, utilizes the resulting curves to transform each (x, y) in the input into (x, y-f(x)) where f(x) is one of the fitted curves.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0200071 "James Malone") AnnotationAssertion(efo:EFO_URI obo:OBI_0200071 "http://www.ebi.ac.uk/efo/EFO_0002093") -AnnotationAssertion(rdfs:label obo:OBI_0200071 "loess transformation") SubClassOf(obo:OBI_0200071 obo:OBI_0200169) # Class: obo:OBI_0200169 (normalization data transformation) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0200169 "A normalization data transformation is a data transformation that has objective normalization.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0200169 "James Malone") AnnotationAssertion(efo:EFO_URI obo:OBI_0200169 "http://www.ebi.ac.uk/efo/EFO_0002030") -AnnotationAssertion(rdfs:label obo:OBI_0200169 "normalization data transformation") SubClassOf(obo:OBI_0200169 obo:OBI_0200000) # Class: obo:OBI_0302903 (nucleic acid hybridization) @@ -63304,7 +63282,6 @@ SubClassOf(obo:OBI_0400105 efo:EFO_0000548) # Class: obo:OBI_0400106 (centrifuge) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0400106 "A centrifuge is an instrument, generally driven by a motor, that puts an object in rotation around a fixed axis, applying force perpendicular to the axis. The centrifuge works using the sedimentation principle, where the centripetal acceleration is used to separate substances of greater and lesser density.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0400106 "James Malone") AnnotationAssertion(efo:EFO_URI obo:OBI_0400106 "http://www.ebi.ac.uk/efo/EFO_0002013") AnnotationAssertion(oboInOwl:hasDbXref obo:OBI_0400106 "MO:476") @@ -63366,14 +63343,11 @@ SubClassOf(obo:OBI_0400111 efo:EFO_0000548) # Class: obo:OBI_0400112 (liquid handler) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0400112 "A liquid_handler is an instrument used for automated liquid transfer and handling.") -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0400112 "a device that is used for automated liquid transfer and handling.") AnnotationAssertion(obo:IAO_0000117 obo:OBI_0400112 "James Malone") AnnotationAssertion(efo:EFO_URI obo:OBI_0400112 "http://www.ebi.ac.uk/efo/EFO_0002021") AnnotationAssertion(oboInOwl:hasDbXref obo:OBI_0400112 "MO:868") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_0400112 "liquid_handler") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_0400112 "liquid_handling_instrument") -AnnotationAssertion(rdfs:label obo:OBI_0400112 "liquid handler") SubClassOf(obo:OBI_0400112 efo:EFO_0000548) # Class: obo:OBI_0400113 (oligonucleotide synthesizer) @@ -63456,9 +63430,7 @@ SubClassOf(obo:OBI_0400155 efo:EFO_0000548) # Class: obo:OBI_0600002 (tumor grading) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_0600002 "Determination of the grade (severity/stage) of a tumor sample, used in cancer biology to describe abnormalities/qualities of tumor cells or tissues. Values can be described by terms from NCI Thesaurus.") AnnotationAssertion(efo:definition_citation obo:OBI_0600002 "Helen Parkinson and Adam Witney") -AnnotationAssertion(rdfs:label obo:OBI_0600002 "tumor grading") SubClassOf(obo:OBI_0600002 efo:EFO_0000410) # Class: obo:OBI_0600005 (collecting specimen from organism) @@ -63485,10 +63457,8 @@ SubClassOf(obo:OBI_0600044 obo:OBI_0600005) # Class: obo:OBI_1000023 (cell culture supernatant) -AnnotationAssertion(obo:IAO_0000115 obo:OBI_1000023 "The clear fluid above a sediment or precipitate of a cell culture.") AnnotationAssertion(oboInOwl:hasDbXref obo:OBI_1000023 "BTO:0002217") AnnotationAssertion(oboInOwl:hasExactSynonym obo:OBI_1000023 "culture supernatant") -AnnotationAssertion(rdfs:label obo:OBI_1000023 "cell culture supernatant") SubClassOf(obo:OBI_1000023 obo:BTO_0000214) # Class: obo:OBI_1110021 (infection process) @@ -63884,10 +63854,7 @@ SubClassOf(obo:PATO_0001869 obo:PATO_0000460) # Class: obo:PATO_0001894 (phenotypic sex) -AnnotationAssertion(obo:IAO_0000115 obo:PATO_0001894 "An organismal quality inhering in a bearer by virtue of the bearer's ability to undergo sexual reproduction in order to differentiate the individuals or types involved.") AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PATO:0001894") obo:IAO_0000115 obo:PATO_0001894 "An organismal quality inhering in a bearer by virtue of the bearer's physical expression of sexual characteristics.") -AnnotationAssertion(obo:IAO_0000115 obo:PATO_0001894 "Term applied to any organism able to undergo sexual reproduction in order to differentiate the individuals or types involved. Sexual reproduction is defined as the ability to exchange genetic material with the potential of recombinant progeny.") -AnnotationAssertion(obo:IAO_0000115 obo:PATO_0001894 "The assemblage of physical properties or qualities by which male is distinguished from female; the physical difference between male and female; the distinguishing peculiarity of male or female.") AnnotationAssertion(obo:IAO_0000117 obo:PATO_0001894 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:PATO_0001894 "Jie Zheng") AnnotationAssertion(obo:IAO_0000117 obo:PATO_0001894 "Tomasz Adamusiak") @@ -64871,10 +64838,7 @@ SubClassOf(obo:PO_0009012 efo:EFO_0000399) # Class: obo:PO_0009013 (portion of meristem tissue) -AnnotationAssertion(obo:IAO_0000115 obo:PO_0009013 "A formative plant tissue usually made up of small cells capable of dividing indefinitely and giving rise to similar cells or to cells that differentiate to produce the definitive tissues and organs.") AnnotationAssertion(obo:IAO_0000115 obo:PO_0009013 "A portion of plant tissue (PO:0009007) in which plant cells (PO:0009002) have retained their embryonic characteristics, or have reverted to them secondarily, and that divide to produce new cells that can undergo differentiation to form mature tissues, i.e. they have a capacity for morphogenesis and growth.") -AnnotationAssertion(obo:IAO_0000115 obo:PO_0009013 "Meristem is a plant component consisting of undifferentiated plant issue - the botanical equivalent of animal stem cells.") -AnnotationAssertion(obo:IAO_0000115 obo:PO_0009013 "Undifferentiated plant issue - the botanical equivalent of animal stem cells") AnnotationAssertion(obo:IAO_0000117 obo:PO_0009013 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref obo:PO_0009013 "BTO:0000852") AnnotationAssertion(oboInOwl:hasDbXref obo:PO_0009013 "MAT:0000006") @@ -66884,8 +66848,6 @@ SubClassOf(obo:UO_0000003 obo:UO_0000045) # Class: obo:UO_0000004 (electric current unit) AnnotationAssertion(obo:IAO_0000115 obo:UO_0000004 "A base unit which is a standard measure of the flow of electric charge.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000004 "A unit which is a standard measure of the flow of electric charge.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000004 "An electric current unit is a base unit which is a standard measure of the flow of electric charge.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000004 "James Malone") AnnotationAssertion(efo:EFO_URI obo:UO_0000004 "http://www.ebi.ac.uk/efo/EFO_0001681") AnnotationAssertion(efo:definition_citation obo:UO_0000004 "UO_0000004") @@ -66894,8 +66856,6 @@ SubClassOf(obo:UO_0000004 obo:UO_0000045) # Class: obo:UO_0000005 (temperature unit) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000005 "A base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000005 "A temperature unit is a base unit which is a standard measure of the average kinetic energy of the particles in a sample of matter.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000005 "A unit which is a standard measure of the average kinetic energy of the particles in a sample of matter.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000005 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000005 "Jie Zheng") @@ -66920,8 +66880,6 @@ SubClassOf(obo:UO_0000006 obo:UO_0000045) # Class: obo:UO_0000007 (luminous intensity unit) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000007 "A base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000007 "A luminous intensity unit is a base unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000007 "A unit which is a standard measure of the wavelength-weighted power emitted by a light source in a particular direction.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000007 "James Malone") AnnotationAssertion(efo:EFO_URI obo:UO_0000007 "http://www.ebi.ac.uk/efo/EFO_0001684") @@ -66964,7 +66922,6 @@ SubClassOf(obo:UO_0000009 obo:UO_0000002) # Class: obo:UO_0000010 (second) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000010 "A second is a time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000010 "A time unit which is equal to the duration of 9 192 631 770 periods of the radiation corresponding to the transition between the two hyperfine levels of the ground state of the caesium 133 atom.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000010 "James Malone") AnnotationAssertion(efo:EFO_URI obo:UO_0000010 "http://www.ebi.ac.uk/efo/EFO_0001687") @@ -67010,7 +66967,6 @@ SubClassOf(obo:UO_0000012 obo:UO_0000005) # Class: obo:UO_0000013 (mole) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000013 "A mole is a substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000013 "A substance unit which is equal to the amount of substance of a molecular system which contains as many elementary entities as there are atoms in 0.012 kilogram of carbon 12.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000013 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000013 "Jie Zheng") @@ -67119,7 +67075,6 @@ SubClassOf(obo:UO_0000020 obo:UO_0000001) # Class: obo:UO_0000021 (gram) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000021 "A gram is a mass unit which is equal to one-thousanth of a kilogram.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000021 "A mass unit which is equal to one thousandth of a kilogram or 10^[-3] kg.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000021 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000021 "Jie Zheng") @@ -67185,7 +67140,6 @@ SubClassOf(obo:UO_0000024 obo:UO_0000002) # Class: obo:UO_0000025 (picogram) AnnotationAssertion(obo:IAO_0000115 obo:UO_0000025 "A mass unit which is equal to one millionth of one millionth of a gram.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000025 "A picogram is a mass unit which is equal to 1 gram x 10^-12") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000025 "Jon Ison") AnnotationAssertion(efo:EFO_URI obo:UO_0000025 "http://www.ebi.ac.uk/efo/EFO_0004360") AnnotationAssertion(oboInOwl:hasDbXref obo:UO_0000025 "MO:363") @@ -67230,7 +67184,6 @@ SubClassOf(obo:UO_0000027 obo:UO_0000126) # Class: obo:UO_0000029 (microsecond) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000029 "A microsecond is a time unit which is equal to one millionth of a second or 10^-6 s.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000029 "A time unit which is equal to one millionth of a second or 10^[-6] s.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000029 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000029 "Jie Zheng") @@ -67273,7 +67226,6 @@ SubClassOf(obo:UO_0000032 obo:UO_0000149) # Class: obo:UO_0000033 (day) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000033 "A day is a derived time unit which is equal to 24 hours.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000033 "A time unit which is equal to 24 hours.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000033 "James Malone") AnnotationAssertion(efo:EFO_URI obo:UO_0000033 "http://www.ebi.ac.uk/efo/EFO_0001789") @@ -67350,7 +67302,6 @@ SubClassOf(obo:UO_0000040 obo:UO_0000006) # Class: obo:UO_0000041 (nanomole) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000041 "A nanomole is a substance unit equal to one thousandth of one millionth of a mole or 10^-9 mol.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000041 "A substance unit equal to one thousandth of one millionth of a mole or 10^[-9] mol.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000041 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000041 "Jie Zheng") @@ -67366,7 +67317,6 @@ SubClassOf(obo:UO_0000041 obo:UO_0000006) # Class: obo:UO_0000042 (picomole) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000042 "A picomole is a substance unit equal to 10^-12 mol.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000042 "A substance unit equal to 10^[-12] mol.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000042 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000042 "Jie Zheng") @@ -67433,9 +67383,7 @@ SubClassOf(obo:UO_0000046 obo:UO_0000000) # Class: obo:UO_0000047 (area unit) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000047 "A derived unit which is a standard measure of the amount of a 2-dimensional flat surface.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000047 "A unit which is a standard measure of the amount of a 2-dimensional flat surface.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000047 "An area unit is a derived unit which is a standard measure of the amount of a 2-dimensional flat surface.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000047 "James Malone") AnnotationAssertion(efo:EFO_URI obo:UO_0000047 "http://www.ebi.ac.uk/efo/EFO_0001693") AnnotationAssertion(efo:definition_citation obo:UO_0000047 "UO_0000047") @@ -67445,8 +67393,6 @@ SubClassOf(obo:UO_0000047 ObjectSomeValuesFrom(efo:EFO_0001697 efo:EFO_0001696)) # Class: obo:UO_0000051 (concentration unit) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000051 "A concentration unit is a dervied unit which represents a standard measurement of how much of a given substance there is mixed with another substance.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000051 "A derived unit which represents a standard measurement of how much of a given substance there is mixed with another substance.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000051 "A unit which represents a standard measurement of how much of a given substance there is mixed with another substance.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000051 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000051 "Jie Zheng") @@ -67607,7 +67553,6 @@ SubClassOf(obo:UO_0000097 obo:UO_0000095) # Class: obo:UO_0000098 (milliliter) -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000098 "A milliliter is a volume unit which is equal to one thousandth of a liter or 10^-3 L, or to 1 cubic centimeter.") AnnotationAssertion(obo:IAO_0000115 obo:UO_0000098 "A volume unit which is equal to one thousandth of a liter or 10^[-3] L, or to 1 cubic centimeter.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000098 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000098 "Jie Zheng") @@ -67758,7 +67703,6 @@ SubClassOf(obo:UO_0000127 obo:UO_0000046) # Class: obo:UO_0000129 (absorbed dose unit) AnnotationAssertion(obo:IAO_0000115 obo:UO_0000129 "A derived unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000129 "A unit which is a standard measure of the energy imparted by ionizing radiation to unit mass of matter such as tissue.") AnnotationAssertion(rdfs:label obo:UO_0000129 "absorbed dose unit") SubClassOf(obo:UO_0000129 obo:UO_0000127) @@ -67932,7 +67876,6 @@ SubClassOf(obo:UO_0000191 obo:UO_0000186) # Class: obo:UO_0000195 (degree fahrenheit) AnnotationAssertion(obo:IAO_0000115 obo:UO_0000195 "A temperature derived unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius.") -AnnotationAssertion(obo:IAO_0000115 obo:UO_0000195 "A temperature unit which is equal to 5/9ths of a kelvin. Negative 40 degrees Fahrenheit is equal to negative 40 degrees Celsius.") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000195 "James Malone") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000195 "Jie Zheng") AnnotationAssertion(obo:IAO_0000117 obo:UO_0000195 "Tomasz Adamusiak") @@ -69243,7 +69186,6 @@ SubClassOf(efo:EFO_0000095 ObjectSomeValuesFrom(obo:RO_0002573 obo:HP_0011010)) # Class: efo:EFO_0000096 (neoplasm of mature B-cells) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378") obo:IAO_0000115 efo:EFO_0000096 "A neoplasm of follicle centre B cells which has at least a partial follicular pattern. Follicular lymphomas comprise about 35% of adult non-Hodgkin lymphomas in the U.S. and 22% worldwide. Most patients have widespread disease at diagnosis. Morphologically, follicular lymphomas are classified as Grade 1, Grade 2, and Grade 3, depending on the percentage of the large lymphocytes present. The vast majority of cases (70-95%) express the BCL-2 rearrangement [t(14;18)]. Histological grade correlates with prognosis. Grades 1 and 2 follicular lymphomas are indolent and grade 3 is more aggressive (adapted from WHO, 2001).") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_0000096 "DOID:706") AnnotationAssertion(Annotation(oboInOwl:source "DOID:706") Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_0000096 "EFO:0000096") AnnotationAssertion(Annotation(oboInOwl:source "EFO:0000096") oboInOwl:hasDbXref efo:EFO_0000096 "ICD9:202.0") @@ -70325,7 +70267,6 @@ SubClassOf(efo:EFO_0000186 efo:EFO_1000307) # Class: efo:EFO_0000187 (Kaposi's sarcoma cell) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000187 "A malignant neoplasm characterized by a vascular proliferation which usually contains blunt endothelial cells. Erythrocyte extravasation and hemosiderin deposition are frequently present. The most frequent site of involvement is the skin; however it may also occur internally. It generally develops in people with compromised immune systems including those with acquired immune deficiency syndrome (AIDS).") AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000187 "A multicentric, malignant neoplastic vascular proliferation characterized by bluish-red cutaneous nodules, usually on the legs, toes, or feet, that slowly increase in size and number and spread to more proximal sites. The tumors have endothelium-lined channels and vascular spaces mixed with aggregates of spindle-shaped cells; they may remain confined to skin and subcutaneous tissue, but widespread visceral involvement may occur.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000187 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000187 "Tomasz Adamusiak") @@ -70917,9 +70858,6 @@ SubClassOf(efo:EFO_0000216 efo:EFO_0000228) # Class: efo:EFO_0000217 (gastritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000217 "A stomach disease that is an inflammation of the lining of the stomach.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000217 "Inflammation of the GASTRIC MUCOSA, a lesion observed in a number of unrelated disorders.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000217 "Inflammation of the stomach.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000217 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000217 "DOID:4029") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000217 "ICD10:K29") @@ -72222,7 +72160,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000271 "true"^^xsd:boolean) # Class: efo:EFO_0000272 (astrocytoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:C6958") Annotation(oboInOwl:hasDbXref "https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23") obo:IAO_0000115 efo:EFO_0000272 "A glial tumor of the brain or spinal cord showing astrocytic differentiation. It includes the following clinicopathological entities: pilocytic astrocytoma, diffuse astrocytoma, anaplastic astrocytoma, pleomorphic xanthoastrocytoma, subependymal giant cell astrocytoma, and glioblastoma.") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_0000272 "DOID:3069") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_0000272 "EFO:0000272") AnnotationAssertion(Annotation(oboInOwl:source "ORDO:94/e") Annotation(oboInOwl:source "Orphanet:94") oboInOwl:hasDbXref efo:EFO_0000272 "MedDRA:10003571") @@ -72391,8 +72328,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000277 "true"^^xsd:boolean) # Class: efo:EFO_0000278 (pancreatitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000278 "INFLAMMATION of the PANCREAS. Pancreatitis is classified as acute unless there are computed tomographic or endoscopic retrograde cholangiopancreatographic findings of CHRONIC PANCREATITIS (International Symposium on Acute Pancreatitis, Atlanta, 1992). The two most common forms of acute pancreatitis are ALCOHOLIC PANCREATITIS and gallstone pancreatitis.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000278 "Inflammation of the pancreas.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000278 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000278 "DOID:4989") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000278 "MeSH:D010195") @@ -72447,7 +72382,6 @@ SubClassOf(efo:EFO_0000279 ObjectAllValuesFrom(efo:EFO_0000784 obo:UBERON_000007 # Class: efo:EFO_0000280 (Barrett's esophagus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000280 "A condition with damage to the lining of the lower ESOPHAGUS resulting from chronic acid reflux (ESOPHAGITIS, REFLUX). Through the process of metaplasia, the squamous cells are replaced by a columnar epithelium with cells resembling those of the INTESTINE or the salmon-pink mucosa of the STOMACH. Barrett's columnar epithelium is a marker for severe reflux and precursor to ADENOCARCINOMA of the esophagus.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000280 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000280 "DOID:9206") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000280 "ICD9:530.85") @@ -72510,10 +72444,6 @@ SubClassOf(efo:EFO_0000283 efo:EFO_0002694) # Class: efo:EFO_0000284 (benign prostatic hyperplasia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000284 "A disease caused by hyperplastic process of non-transformed prostatic cells.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000284 "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000284 "A non-cancerous nodular enlargement of the prostate gland. It is characterized by the presence of epithelial cell nodules, and stromal nodules containing fibrous and smooth muscle elements. It is the most common urologic disorder in men, causing blockage of urine flow.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000284 "Increase in constituent cells in the PROSTATE, leading to enlargement of the organ (hypertrophy) and adverse impact on the lower urinary tract function. This can be caused by increased rate of cell proliferation, reduced rate of cell death, or both.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000284 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000284 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000284 "DOID:11132") @@ -73270,8 +73200,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000317 "true"^^xsd:boolean) # Class: efo:EFO_0000318 (cardiomyopathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000318 "A disease of the heart muscle or myocardium proper. Cardiomyopathies may be classified as either primary or secondary, on the basis of etiology, or on the pathophysiology of the lesion: hypertrophic, dilated, or restrictive.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000318 "A group of diseases in which the dominant feature is the involvement of the CARDIAC MUSCLE itself. Cardiomyopathies are classified according to their predominant pathophysiological features (DILATED CARDIOMYOPATHY; HYPERTROPHIC CARDIOMYOPATHY; RESTRICTIVE CARDIOMYOPATHY) or their etiological/pathological factors (CARDIOMYOPATHY, ALCOHOLIC; ENDOCARDIAL FIBROELASTOSIS).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000318 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000318 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000318 "DOID:0050700") @@ -74019,7 +73947,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000343 "true"^^xsd:boolean) # Class: efo:EFO_0000344 (circular visceral mesoderm primordium) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000344 "Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when 2 distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut.") AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000344 "Primordium of the circular visceral muscle of the trunk. Becomes distinct from the rest of the trunk mesoderm by stage 11 when two distinct layers of trunk mesoderm are apparent, the inner of which is the circular visceral muscle primordium. By stage 12, these cells form a palisade consisting of a dorsal row an a ventral row of tightly packed cells. These cells adhere to the anterior and posterior midgut rudiments as they extend. During dorsal closure they spread out to encircle the midgut.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000344 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000344 "FBbt:00017015") @@ -74746,7 +74673,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000383 "true"^^xsd:boolean) # Class: efo:EFO_0000384 (Crohn's disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000384 "A chronic transmural inflammation that may involve any part of the DIGESTIVE TRACT from MOUTH to ANUS, mostly found in the ILEUM, the CECUM, and the COLON. In Crohn disease, the inflammation, extending through the intestinal wall from the MUCOSA to the serosa, is characteristically asymmetric and segmental. Epithelioid GRANULOMAS may be seen in some patients.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000384 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000384 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000384 "DOID:8778") @@ -75063,8 +74989,6 @@ SubClassOf(efo:EFO_0000399 obo:BFO_0000015) # Class: efo:EFO_0000400 (diabetes mellitus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000400 "A heterogeneous group of disorders characterized by HYPERGLYCEMIA and GLUCOSE INTOLERANCE.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000400 "A metabolic disorder characterized by abnormally high blood sugar levels due to diminished production of insulin or insulin resistance/desensitization.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000400 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000400 "DOID:9351") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000400 "ICD10:E13") @@ -75233,9 +75157,6 @@ SubClassOf(efo:EFO_0000404 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00000 # Class: efo:EFO_0000405 (digestive system disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000405 "Chronic or recurrent gastrointestinal disorders without an identifiable structural or biochemical explanation by the routine diagnostic tests. Functional gastrointestinal disorders are classified according to the presumed site of the disorder, such as IRRITABLE BOWEL SYNDROME, non-ulcer DYSPEPSIA, and non-cardiac CHEST PAIN.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000405 "Diseases in any part of the GASTROINTESTINAL TRACT or the accessory organs (LIVER; BILIARY TRACT; PANCREAS).") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000405 "Diseases in any segment of the GASTROINTESTINAL TRACT from ESOPHAGUS to RECTUM.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000405 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000405 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000405 "DOID:5295") @@ -76158,9 +76079,6 @@ SubClassOf(efo:EFO_0000473 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0004420) # Class: efo:EFO_0000474 (epilepsy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000474 "A brain disorder characterized by episodes of abnormally increased neuronal discharge resulting in transient episodes of sensory or motor neurological dysfunction, or psychic dysfunction. These episodes may or may not be associated with loss of consciousness or convulsions.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000474 "A disorder characterized by recurrent episodes of paroxysmal brain dysfunction due to a sudden, disorderly, and excessive neuronal discharge. Epilepsy classification systems are generally based upon: (1) clinical features of the seizure episodes (e.g., motor seizure), (2) etiology (e.g., post-traumatic), (3) anatomic site of seizure origin (e.g., frontal lobe seizure), (4) tendency to spread to other structures in the brain, and (5) temporal patterns (e.g., nocturnal epilepsy) (MeSH).") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000474 "A disorder characterized by recurrent seizures") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000474 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000474 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000474 "ICD10:G40") @@ -77375,7 +77293,6 @@ DisjointClasses(efo:EFO_0000536 efo:EFO_0001460) # Class: efo:EFO_0000537 (hypertension) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000537 "Persistently high systemic arterial BLOOD PRESSURE. Based on multiple readings (BLOOD PRESSURE DETERMINATION), hypertension is currently defined as when SYSTOLIC PRESSURE is consistently greater than 140 mm Hg or when DIASTOLIC PRESSURE is consistently 90 mm Hg or more.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000537 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000537 "DOID:10763") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000537 "ICD10:O10") @@ -77834,7 +77751,6 @@ SubClassOf(efo:EFO_0000556 ObjectSomeValuesFrom(obo:BFO_0000051 ObjectIntersecti # Class: efo:EFO_0000557 (juvenile dermatomyositis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000557 "A subacute or chronic inflammatory disease of muscle and skin, marked by proximal muscle weakness and a characteristic skin rash. The illness occurs with approximately equal frequency in children and adults. The skin lesions usually take the form of a purplish rash (or less often an exfoliative dermatitis) involving the nose, cheeks, forehead, upper trunk, and arms. The disease is associated with a complement mediated intramuscular microangiopathy, leading to loss of capillaries, muscle ischemia, muscle-fiber necrosis, and perifascicular atrophy. The childhood form of this disease tends to evolve into a systemic vasculitis. Dermatomyositis may occur in association with malignant neoplasms. (From Adams et al., Principles of Neurology, 6th ed, pp1405-6)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000557 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000557 "DOID:14203") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000557 "MedDRA:10078425") @@ -78319,9 +78235,6 @@ SubClassOf(efo:EFO_0000580 efo:EFO_0000186) # Class: efo:EFO_0000584 (infectious meningitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000584 "A disorder characterized by acute inflammation of the meninges of the brain and/or spinal cord.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000584 "Inflammation of the meninges of the brain and/or spinal cord caused by an infectious agent (viral, bacterial, or fungal). Symptoms include headache, fever, vomiting, neck stiffness, photophobia, confusion, and seizures.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000584 "Meningitis is a nervous system infectious disease characterized as an inflammation of the pia-arachnoid meninges. It can be caused by growth of bacteria, fungi, or parasites within the subarachnoid space or by the growth of bacteria or viruses within the meningeal or ependymal cells. Meningitis is a diffuse infection caused by a variety of different agents.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000584 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000584 "DOID:9471") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000584 "ICD10:G03") @@ -78379,9 +78292,6 @@ SubClassOf(efo:EFO_0000588 efo:EFO_1001044) # Class: efo:EFO_0000589 (metabolic disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000589 "A congenital (due to inherited enzyme abnormality) or acquired (due to failure of a metabolic important organ) disorder resulting from an abnormal metabolic process. -- 2003") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000589 "A disease that involving errors in metabolic processes.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000589 "Generic term for diseases caused by an abnormal metabolic process. It can be congenital due to inherited enzyme abnormality (METABOLISM, INBORN ERRORS) or acquired due to disease of an endocrine organ or failure of a metabolically important organ such as the liver. (Stedman, 26th ed)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000589 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000589 "DOID:0014667") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000589 "ICD9:277.9") @@ -78809,9 +78719,6 @@ DisjointClasses(efo:EFO_0000618 efo:EFO_0001460) # Class: efo:EFO_0000621 (neuroblastoma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000621 "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome (MeSH).") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000621 "A common neoplasm of early childhood arising from neural crest cells in the sympathetic nervous system, and characterized by diverse clinical behavior, ranging from spontaneous remission to rapid metastatic progression and death. This tumor is the most common intraabdominal malignancy of childhood, but it may also arise from thorax, neck, or rarely occur in the central nervous system. Histologic features include uniform round cells with hyperchromatic nuclei arranged in nests and separated by fibrovascular septa. Neuroblastomas may be associated with the opsoclonus-myoclonus syndrome. (From DeVita et al., Cancer: Principles and Practice of Oncology, 5th ed, pp2099-2101; Curr Opin Oncol 1998 Jan;10(1):43-51)") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000621 "A neuroblastic tumor characterized by the presence of neuroblastic cells, the absence of ganglion cells, and the absence of a prominent Schwannian stroma formation.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000621 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000621 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000621 "DOID:769") @@ -79387,7 +79294,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000659 "true"^^xsd:boolean) # Class: efo:EFO_0000660 (polycystic ovary syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000660 "A complex disorder characterized by infertility, HIRSUTISM; OBESITY; and various menstrual disturbances such as OLIGOMENORRHEA; AMENORRHEA; ANOVULATION. Polycystic ovary syndrome is usually associated with bilateral enlarged ovaries studded with atretic follicles, not with cysts. The term, polycystic ovary, is misleading.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000660 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000660 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000660 "DOID:11612") @@ -79443,9 +79349,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000661 "true"^^xsd:boolean) # Class: efo:EFO_0000662 (polyp) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000662 "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000662 "A usually exophytic mass attached to the underlying tissue by a broad base or a thin stalk. Polyps can be neoplastic or non-neoplastic. Neoplastic polyps usually represent proliferations of the epithelium, and are commonly seen in the gastrointestinal tract. Polyps of the gastrointestinal tract are often called adenomas, are associated with dysplasia, and may eventually transform into carcinomas. Non-neoplastic polyps may be inflammatory, degenerative, or the result of malformations. -- 2004") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000662 "Discrete abnormal tissue masses that protrude into the lumen of the DIGESTIVE TRACT or the RESPIRATORY TRACT. Polyps can be spheroidal, hemispheroidal, or irregular mound-shaped structures attached to the MUCOUS MEMBRANE of the lumen wall either by a stalk, pedunculus, or by a broad base.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000662 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000662 "MeSH:D011127") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000662 "MedDRA:10061529") @@ -79733,8 +79636,6 @@ SubClassOf(efo:EFO_0000676 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00000 # Class: efo:EFO_0000677 (mental or behavioural disorder) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000677 "Disorders in which there is a loss of ego boundaries or a gross impairment in reality testing with delusions or prominent hallucinations. (From DSM-IV, 1994)") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000677 "Psychiatric illness or diseases manifested by breakdowns in the adaptational process expressed primarily as abnormalities of thought, feeling, and behavior producing either distress or impairment of function (MeSH).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000677 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000677 "Tomasz Adamusiak") AnnotationAssertion(obo:UBPROP_0000001 efo:EFO_0000677 "A disease that involves a psychological or behavioral pattern generally associated with subjective distress or disability that occurs in an individual, and which are not a part of normal development or culture.") @@ -79975,9 +79876,6 @@ DisjointClasses(efo:EFO_0000684 efo:EFO_0001460) # Class: efo:EFO_0000685 (rheumatoid arthritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000685 "A chronic systemic disease, primarily of the joints, marked by inflammatory changes in the synovial membranes and articular structures, widespread fibrinoid degeneration of the collagen fibers in mesenchymal tissues, and by atrophy and rarefaction of bony structures. Etiology is unknown, but autoimmune mechanisms have been implicated.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000685 "An arthritis that results_from an autoimmune disease which attacks healthy cells and tissue located_in joint.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000685 "Rheumatoid arthritis is a rheumatologic disorder described as an autoimmune disease that is usually a chronic disease and is characterized especially by pain, stiffness, inflammation, swelling, and sometimes destruction of joints.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000685 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000685 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000685 "DOID:7148") @@ -80733,7 +80631,6 @@ SubClassOf(efo:EFO_0000712 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00034 # Class: efo:EFO_0000713 (subarachnoid hemorrhage) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000713 "Bleeding into the intracranial or spinal SUBARACHNOID SPACE, most resulting from INTRACRANIAL ANEURYSM rupture. It can occur after traumatic injuries (SUBARACHNOID HEMORRHAGE, TRAUMATIC). Clinical features include HEADACHE; NAUSEA; VOMITING, nuchal rigidity, variable neurological deficits and reduced mental status.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000713 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000713 "ICD10:I60") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000713 "ICD9:430") @@ -80952,7 +80849,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000728 "true"^^xsd:boolean) # Class: efo:EFO_0000729 (ulcerative colitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000729 "Inflammation of the COLON that is predominantly confined to the MUCOSA. Its major symptoms include DIARRHEA, rectal BLEEDING, the passage of MUCUS, and ABDOMINAL PAIN.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000729 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000729 "Sirarat Sarntivijai") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000729 "Tomasz Adamusiak") @@ -81737,8 +81633,6 @@ SubClassOf(efo:EFO_0000768 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00020 # Class: efo:EFO_0000769 (Epstein-Barr virus infection) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000769 "A Herpesviridae infectious disease that results_in infection, has_agent Human herpesvirus 4, which is transmitted_by contact with the saliva.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000769 "Infection with human herpesvirus 4 (HERPESVIRUS 4, HUMAN); which may facilitate the development of various lymphoproliferative disorders. These include BURKITT LYMPHOMA (African type), INFECTIOUS MONONUCLEOSIS, and oral hairy leukoplakia (LEUKOPLAKIA, HAIRY).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000769 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000769 "MeSH:D020031") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000769 "MedDRA:10015108") @@ -81809,7 +81703,6 @@ SubClassOf(efo:EFO_0000771 ObjectSomeValuesFrom(obo:RO_0000057 obo:NCBITaxon_2)) # Class: efo:EFO_0000772 (pneumococcal infection) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000772 "Infections with bacteria of the species STREPTOCOCCUS PNEUMONIAE.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000772 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000772 "ICD10:J13") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000772 "MeSH:D011008") @@ -81958,7 +81851,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0000774 "true"^^xsd:boolean) # Class: efo:EFO_0000775 (Whipple's disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0000775 "A chronic systemic infection by a gram-positive bacterium, Tropheryma whippelii, mainly affecting the SMALL INTESTINE but also the JOINTS; CARDIOVASCULAR SYSTEM; and the CENTRAL NERVOUS SYSTEM. The disease is characterized by fat deposits in the INTESTINAL MUCOSA and LYMPH NODES, malabsorption, DIARRHEA with fatty stools, MALNUTRITION, and ARTHRITIS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0000775 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000775 "DOID:8476") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0000775 "ICD9:040.2") @@ -87075,7 +86967,6 @@ SubClassOf(efo:EFO_0001055 efo:EFO_0001054) # Class: efo:EFO_0001056 (tuberculoid leprosy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001056 "A principal or polar form of LEPROSY in which the skin lesions are few and are sharply demarcated. Peripheral nerve involvement is pronounced and may be severe. Unlike lepromatous leprosy (LEPROSY, LEPROMATOUS), the lepromin test is positive. Tuberculoid leprosy is rarely a source of infection to others.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001056 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001056 "DOID:1025") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001056 "ICD9:030.1") @@ -87106,7 +86997,6 @@ SubClassOf(efo:EFO_0001056 efo:EFO_0001054) # Class: efo:EFO_0001057 (lepromatous leprosy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001057 "A chronic communicable infection which is a principal or polar form of LEPROSY. This disorder is caused by MYCOBACTERIUM LEPRAE and produces diffuse granulomatous skin lesions in the form of nodules, macules, or papules. The peripheral nerves are involved symmetrically and neural sequelae occur in the advanced stage.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001057 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001057 "DOID:10887") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001057 "ICD9:030.0") @@ -87316,8 +87206,6 @@ SubClassOf(efo:EFO_0001061 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00000 # Class: efo:EFO_0001062 (cytomegalovirus infection) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001062 "A Herpesviridae infectious disease that results_in infection in animals and humans, has_agent Cytomegalovirus, which is transmitted_by contact with the infected person's bodily fluids or transmitted_by sexual contact, or transmitted_by blood transfusions.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001062 "Infection with CYTOMEGALOVIRUS, characterized by enlarged cells bearing intranuclear inclusions. Infection may be in almost any organ, but the salivary glands are the most common site in children, as are the lungs in adults.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001062 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001062 "ICD10:B25") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001062 "ICD9:078.5") @@ -87736,9 +87624,6 @@ SubClassOf(efo:EFO_0001073 ObjectSomeValuesFrom(efo:EFO_0006351 efo:EFO_0004340) # Class: efo:EFO_0001074 (morbid obesity) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001074 "A status with BODY WEIGHT that is grossly above the acceptable or desirable weight, usually due to accumulation of excess FATS in the body. The standards may vary with age, sex, genetic or cultural background. In the BODY MASS INDEX, a BMI greater than 30.0 kg/m2 is considered obese, and a BMI greater than 40.0 kg/m2 is considered morbidly obese (MORBID OBESITY).") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001074 "Extreme form of obesity where body bass index is 40 or more, which is roughly equivalent to 100 pounds or more over ideal body weight.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001074 "The condition of weighing two, three, or more times the ideal weight, so called because it is associated with many serious and life-threatening disorders. In the BODY MASS INDEX, morbid obesity is defined as having a BMI greater than 40.0 kg/m2.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001074 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001074 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001074 "DOID:11981") @@ -90464,7 +90349,6 @@ SubClassOf(efo:EFO_0001355 efo:EFO_0000399) # Class: efo:EFO_0001356 (familial amyotrophic lateral sclerosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001356 "Familial amyotrophic lateral sclerosis is a amyotrophic lateral sclerosis in which a family history of the disease exists.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001356 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001356 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001356 "MedDRA:10077024") @@ -92100,7 +91984,6 @@ DisjointClasses(efo:EFO_0001460 efo:EFO_0005755) # Class: efo:EFO_0001461 (control) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001461 "A control role is borne by a material in a process in which results obtained from an experimental sample and a control sample are compared.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001461 "The act of directing or determining; regulation or maintenance of a function or action; a relation of constraint of one entity (thing or person or group) by another.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001461 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001461 "NCIt:C61299") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001461 "SNOMEDCT:246106000") @@ -92533,7 +92416,6 @@ SubClassOf(efo:EFO_0001667 ObjectSomeValuesFrom(obo:RO_0001000 ObjectIntersectio # Class: efo:EFO_0001668 (human papilloma virus infection) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001668 "A viral infectious disease that has_material_basis_in human papillomaviruses, which establish productive infections only in the stratified epithelium of the skin or mucous membranes. These viruses cause warts and sometimes tumors. They are transmitted_by sexual contact.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001668 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001668 "MedDRA:10063001") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001668 "NCIt:C27851") @@ -92589,7 +92471,6 @@ SubClassOf(efo:EFO_0001675 efo:EFO_0000763) # Class: efo:EFO_0001695 (size) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001695 "A morphology quality inhering in a bearer by virtue of the bearer's physical magnitude.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001695 "Size is a morphology quality which describes a material entity's physical magnitude.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001695 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001695 "NCIt:C25681") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001695 "PATO:0000117") @@ -92635,7 +92516,6 @@ SubClassOf(efo:EFO_0001703 obo:UO_0000046) # Class: efo:EFO_0001715 (volume) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001715 "A 3-D extent quality inhering in a bearer by virtue of the bearer's amount of 3-dimensional space it occupies.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0001715 "A volume is a size quality which describes the amount of 3-dimensional space an object occupies.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001715 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0001715 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0001715 "NCIt:C25335") @@ -98673,8 +98553,6 @@ SubClassOf(efo:EFO_0002430 efo:EFO_0004251) # Class: efo:EFO_0002431 (tumour of cranial and spinal nerves) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002431 "A benign or malignant neoplasm arising from a peripheral nerve or the perineural sheaths.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002431 "Neoplasms which arise from peripheral nerve tissue. This includes NEUROFIBROMAS; SCHWANNOMAS; GRANULAR CELL TUMORS; and malignant peripheral NERVE SHEATH NEOPLASMS. (From DeVita Jr et al., Cancer: Principles and Practice of Oncology, 5th ed, pp1750-1)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0002431 "James Malone") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0002431 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0002431 "DOID:1192") @@ -100328,8 +100206,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0002607 "true"^^xsd:boolean) # Class: efo:EFO_0002608 (AIDS dementia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002608 "A HIV encephalopathy and is_a brain disease that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002608 "A brain disease and is_a HIV encephalopathy that results_in infection in adults located_in brain, has_agent Human immunodeficiency virus 1 or has_agent Human immunodeficiency virus 2. The infection has_symptom cognitive impairment, has_symptom motor dysfunction, has_symptom behavioral change, and has_symptom speech problems.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0002608 "Ele Holloway") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0002608 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0002608 "MeSH:D015526") @@ -100768,7 +100644,6 @@ SubClassOf(efo:EFO_0002628 efo:EFO_0009683) # Class: efo:EFO_0002629 (viral cardiomyopathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002629 "Viral cardiomyopathy occurs when viral infections cause myocarditis with a resulting thickening of the myocardium and dilation of the ventricles. These viruses include Coxsackie B and adenovirus, echoviruses, influenza H1N1, Epstein-Barr virus, rubella (German measles virus), varicella (chickenpox virus), mumps, measles, parvoviruses, yellow fever, dengue fever, polio, rabies and the viruses that cause hepatitis A and C") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0002629 "Sirarat Sarntivijai") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0002629 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0002629 "MedDRA:10068767") @@ -101905,7 +101780,6 @@ SubClassOf(efo:EFO_0002792 ObjectSomeValuesFrom(obo:RO_0001000 ObjectIntersectio # Class: efo:EFO_0002793 (HL-60) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002793 "HL-60 is a cell line which is the bearer of human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.") AnnotationAssertion(obo:IAO_0000115 efo:EFO_0002793 "Human acute myeloid leukemia established from the peripheral blood of a 35-year-old woman with acute myeloid leukemia (AML FAB M2) in 1976.") AnnotationAssertion(efo:definition_citation efo:EFO_0002793 "https://www.sigmaaldrich.com/catalog/product/sigma/cb_98070106?lang=en®ion=US&gclid=EAIaIQobChMIw-Pa7aCq3wIVEMRkCh2bGA2iEAAYAiAAEgKrzPD_BwE") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0002793 "BTO:0000738") @@ -105346,7 +105220,6 @@ SubClassOf(efo:EFO_0003084 efo:EFO_0000569) # Class: efo:EFO_0003085 (dedifferentiated liposarcoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "Orphanet:99970") obo:IAO_0000115 efo:EFO_0003085 "Dedifferentiated liposarcoma (DDLS) is a high-grade subtype of liposarcoma (LS) that progresses from well-differentiated liposarcoma (WDLS), and most often occurs in the retroperitoneum. It is defined as a region of nonlipogenic sarcoma associated with WDLS.") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_0003085 "DOID:0080531") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_0003085 "EFO:0003085") AnnotationAssertion(Annotation(oboInOwl:source "ORDO:99970/ntbt") Annotation(oboInOwl:source "Orphanet:99970") oboInOwl:hasDbXref efo:EFO_0003085 "ICD10:C49.9") @@ -105566,7 +105439,6 @@ SubClassOf(efo:EFO_0003096 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00018 # Class: efo:EFO_0003097 (empyema) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003097 "An accumulation of pus, usually in a body cavity") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003097 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003097 "ICD9:510") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003097 "MeSH:D004653") @@ -105616,7 +105488,6 @@ SubClassOf(efo:EFO_0003099 efo:EFO_0001379) # Class: efo:EFO_0003100 (peripheral neuropathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003100 "A disorder affecting the peripheral nervous system. It manifests with pain, tingling, numbness, and muscle weakness. It may be the result of physical injury, toxic substances, viral diseases, diabetes, renal failure, cancer, and drugs.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003100 "Catherine Leroy") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003100 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003100 "DOID:0060053") @@ -111702,7 +111573,6 @@ SubClassOf(efo:EFO_0003763 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00034 # Class: efo:EFO_0003764 (transient ischemic attack) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003764 "Brief reversible episodes of focal, nonconvulsive ischemic dysfunction of the brain having a duration of less than 24 hours, and usually less than one hour, caused by transient thrombotic or embolic blood vessel occlusion or stenosis. Events may be classified by arterial distribution, temporal pattern, or etiology (e.g., embolic vs. thrombotic). (From Adams et al., Principles of Neurology, 6th ed, pp814-6)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003764 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003764 "DOID:224") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003764 "ICD10:G45") @@ -111798,7 +111668,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0003766 "true"^^xsd:boolean) # Class: efo:EFO_0003767 (inflammatory bowel disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003767 "A spectrum of small and large bowel inflammatory diseases of unknown etiology. It includes Crohn's disease, ulcerative colitis, and colitis of indeterminate type. --2003[accessedResource: NCIt:C3138][accessDate: 05-04-2011]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003767 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003767 "DOID:0050589") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003767 "MeSH:D015212") @@ -111824,8 +111693,6 @@ SubClassOf(efo:EFO_0003767 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00024 # Class: efo:EFO_0003768 (nicotine dependence) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003768 "Inhaling and exhaling the smoke of tobacco or something similar to tobacco.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003768 "Tobacco used to the detriment of a person's health or social functioning. Tobacco dependence is included.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003768 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003768 "DOID:0050742") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003768 "ICD10:F17") @@ -112145,8 +112012,6 @@ SubClassOf(efo:EFO_0003779 efo:EFO_0006812) # Class: efo:EFO_0003780 (Behcet's syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003780 "A autoimmune disease of cardiovascular system and is_a vasculitis that causes chronic inflammation in blood vessels throughout the body leading to ulcerations on the mouth and sometimes the genitals, notorious for causing hypopyon uveitis.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003780 "Rare chronic inflammatory disease involving the small blood vessels. It is of unknown etiology and characterized by mucocutaneous ulceration in the mouth and genital region and uveitis with hypopyon. The neuro-ocular form may cause blindness and death. SYNOVITIS; THROMBOPHLEBITIS; gastrointestinal ulcerations; RETINAL VASCULITIS; and OPTIC ATROPHY may occur as well.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003780 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003780 "DOID:13241") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003780 "ICD9:136.1") @@ -112213,7 +112078,6 @@ SubClassOf(efo:EFO_0003781 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00053 # Class: efo:EFO_0003782 (motor neuron disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003782 "Diseases characterized by a selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In AMYOTROPHIC LATERAL SCLEROSIS there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes (see MUSCULAR ATROPHY, SPINAL) the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy (BULBAR PALSY, PROGRESSIVE), the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation. (Adams et al., Principles of Neurology, 6th ed, p1089)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003782 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003782 "DOID:231") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003782 "ICD9:335.2") @@ -112642,7 +112506,6 @@ SubClassOf(efo:EFO_0003816 ObjectSomeValuesFrom(efo:is_executed_in obo:OBI_02001 # Class: efo:EFO_0003817 (laryngeal neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003817 "Cancers or tumors of the LARYNX or any of its parts: the GLOTTIS; EPIGLOTTIS; LARYNGEAL CARTILAGES; LARYNGEAL MUSCLES; and VOCAL CORDS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003817 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003817 "DOID:2596") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003817 "MeSH:D007822") @@ -112877,7 +112740,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0003823 "true"^^xsd:boolean) # Class: efo:EFO_0003824 (eye neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003824 "Tumors or cancer of the EYE.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003824 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003824 "ICD10:C69") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003824 "MeSH:D005134") @@ -112939,7 +112801,6 @@ SubClassOf(efo:EFO_0003826 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0003827 (pulmonary embolism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003827 "Blocking of the PULMONARY ARTERY or one of its branches by an EMBOLUS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003827 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003827 "DOID:9477") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003827 "HP:0002204") @@ -113389,7 +113250,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0003845 "true"^^xsd:boolean) # Class: efo:EFO_0003846 (urethral neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003846 "Cancer or tumors of the URETHRA. Benign epithelial tumors of the urethra usually consist of squamous and transitional cells. Primary urethral carcinomas are rare and typically of squamous cells. Urethral carcinoma is the only urological malignancy that is more common in females than in males.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003846 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003846 "DOID:734") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003846 "MeSH:D014523") @@ -113693,7 +113553,6 @@ SubClassOf(efo:EFO_0003856 efo:EFO_0002571) # Class: efo:EFO_0003857 (arthrogryposis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003857 "Persistent flexure or contracture of a joint. (Dorland, 27th ed)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003857 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003857 "MeSH:D001176") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003857 "NCIt:C84572") @@ -113722,7 +113581,6 @@ EquivalentClasses(efo:EFO_0003858 ObjectIntersectionOf(obo:UBERON_0000061 Object # Class: efo:EFO_0003859 (uterine neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003859 "Tumors of the UTERUS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003859 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003859 "DOID:363") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003859 "ICD10:D26") @@ -113972,8 +113830,6 @@ SubClassOf(efo:EFO_0003868 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00001 # Class: efo:EFO_0003869 (breast neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003869 "A benign or malignant neoplasm of the breast parenchyma. It can originate from the ducts, lobules or the breast adipose tissue. Breast neoplasms are much more common in females than males.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003869 "Abnormal growth located in the breast or mammory gland.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003869 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003869 "HP:0100013") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003869 "ICD10:C50") @@ -114096,7 +113952,6 @@ SubClassOf(efo:EFO_0003871 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00017 # Class: efo:EFO_0003872 (colitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003872 "Inflammation of the COLON section of the large intestine (INTESTINE, LARGE), usually with symptoms such as DIARRHEA (often with blood and mucus), ABDOMINAL PAIN, and FEVER.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003872 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003872 "DOID:0060180") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003872 "MeSH:D003092") @@ -114221,7 +114076,6 @@ SubClassOf(efo:EFO_0003877 efo:EFO_0008568) # Class: efo:EFO_0003878 (urethritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003878 "Inflammation involving the URETHRA. Similar to CYSTITIS, clinical symptoms range from vague discomfort to painful urination (DYSURIA), urethral discharge, or both.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003878 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003878 "DOID:1343") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003878 "ICD10:N34") @@ -114282,7 +114136,6 @@ SubClassOf(efo:EFO_0003881 efo:EFO_0002571) # Class: efo:EFO_0003882 (osteoporosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003882 "Reduction of bone mass without alteration in the composition of bone, leading to fractures. Primary osteoporosis can be of two major types: postmenopausal osteoporosis (OSTEOPOROSIS, POSTMENOPAUSAL) and age-related or senile osteoporosis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003882 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003882 "DOID:11476") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003882 "ICD10:M80") @@ -114802,7 +114655,6 @@ SubClassOf(efo:EFO_0003901 efo:EFO_0003765) # Class: efo:EFO_0003902 (spinal fracture) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003902 "Broken bones in the vertebral column.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003902 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003902 "ICD10:S12") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003902 "ICD10:S32") @@ -115046,7 +114898,6 @@ SubClassOf(efo:EFO_0003913 ObjectSomeValuesFrom(obo:RO_0000052 obo:UBERON_000162 # Class: efo:EFO_0003914 (atherosclerosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003914 "A thickening and loss of elasticity of the walls of ARTERIES that occurs with formation of ATHEROSCLEROTIC PLAQUES within the ARTERIAL INTIMA.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003914 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003914 "DOID:1936") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003914 "ICD10:I70") @@ -115393,7 +115244,6 @@ SubClassOf(efo:EFO_0003931 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00014 # Class: efo:EFO_0003932 (bacterial vaginosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003932 "Polymicrobial, nonspecific vaginitis associated with positive cultures of Gardnerella vaginalis and other anaerobic organisms and a decrease in lactobacilli. It remains unclear whether the initial pathogenic event is caused by the growth of anaerobes or a primary decrease in lactobacilli.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003932 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003932 "DOID:3385") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003932 "MeSH:D016585") @@ -115555,11 +115405,11 @@ SubClassOf(efo:EFO_0003940 obo:GO_0008150) # Class: efo:EFO_0003941 (sex hormone-binding globulin) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003941 "A glycoprotein migrating as a beta-globulin. Its molecular weight, 52,000 or 95,000-115,000, indicates that it exists as a dimer. The protein binds testosterone, dihydrotestosterone, and estradiol in the plasma. Sex hormone-binding protein has the same amino acid sequence as ANDROGEN-BINDING PROTEIN. They differ by their sites of synthesis and post-translational oligosaccharide modifications.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003941 "http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003941 "Tomasz Adamusiak") AnnotationAssertion(efo:definition_citation efo:EFO_0003941 "http://en.wikipedia.org/wiki/Sex_hormone-binding_globulin") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003941 "MeSH:D012738") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003941 "NCIt:C17128") +AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003941 "Wikipedia:Sex_hormone-binding_globulin") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003941 "Binding Globulin, Testosterone-Estradiol") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003941 "Globulin, Sex Hormone-Binding") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0003941 "Globulin, Testosterone-Estradiol Binding") @@ -115809,7 +115659,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0003954 "true"^^xsd:boolean) # Class: efo:EFO_0003955 (bacterial sexually transmitted disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003955 "Bacterial diseases transmitted or propagated by sexual conduct.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003955 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003955 "ICD10:A63") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003955 "MeSH:D015231") @@ -115987,7 +115836,6 @@ SubClassOf(efo:EFO_0003963 efo:EFO_0003784) # Class: efo:EFO_0003964 (hip fracture) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0003964 "Fractures of the FEMUR HEAD; the FEMUR NECK; (FEMORAL NECK FRACTURES); the trochanters; or the inter- or subtrochanteric region. Excludes fractures of the acetabulum and fractures of the femoral shaft below the subtrochanteric region (FEMORAL FRACTURES).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0003964 "Tomasz Adamusiak") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003964 "MeSH:D006620") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0003964 "MedDRA:10020MedDRA:100") @@ -117575,7 +117423,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0004151 "true"^^xsd:boolean) # Class: efo:EFO_0004152 (chorea) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004152 "Chorea is a movement disease characterized by brief, quasi-purposeful, irregular contractions that are not repetitive or rhythmic, but appear to flow from one muscle to the next.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004152 "MeSH:D002819") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004152 "MedDRA:10008748") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004152 "NCIt:C84633") @@ -117903,7 +117750,6 @@ SubClassOf(efo:EFO_0004189 ObjectSomeValuesFrom(obo:BFO_0000050 efo:EFO_0004184) # Class: efo:EFO_0004190 (open-angle glaucoma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004190 "Glaucoma in which the angle of the anterior chamber is open and the trabecular meshwork does not encroach on the base of the iris.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004190 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004190 "DOID:1067") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004190 "ICD9:365.1") @@ -118374,7 +118220,6 @@ SubClassOf(efo:EFO_0004224 efo:EFO_0001645) # Class: efo:EFO_0004225 (Coronary Vasospasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004225 "Spasm of the large- or medium-sized coronary arteries.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004225 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004225 "DOID:11840") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004225 "MeSH:D003329") @@ -118387,7 +118232,6 @@ SubClassOf(efo:EFO_0004225 efo:EFO_0001645) # Class: efo:EFO_0004226 (Creutzfeldt Jacob Disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004226 "A rare transmissible encephalopathy most prevalent between the ages of 50 and 70 years. Affected individuals may present with sleep disturbances, personality changes, ATAXIA; APHASIA, visual loss, weakness, muscle atrophy, MYOCLONUS, progressive dementia, and death within one year of disease onset. A familial form exhibiting autosomal dominant inheritance and a new variant CJD (potentially associated with ENCEPHALOPATHY, BOVINE SPONGIFORM) have been described. Pathological features include prominent cerebellar and cerebral cortical spongiform degeneration and the presence of PRIONS. (From N Engl J Med, 1998 Dec 31;339(27)).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004226 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004226 "DOID:11949") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004226 "MeSH:D007562") @@ -118587,7 +118431,6 @@ SubClassOf(efo:EFO_0004237 ObjectSomeValuesFrom(obo:BFO_0000054 ObjectIntersecti # Class: efo:EFO_0004238 (hearing loss) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004238 "A general term for the complete or partial loss of the ability to hear from one or both ears.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004238 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004238 "ICD10:H91") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004238 "ICD9:389") @@ -118716,7 +118559,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0004245 "true"^^xsd:boolean) # Class: efo:EFO_0004246 (mucocutaneous lymph node syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004246 "An acute, febrile, mucocutaneous condition accompanied by swelling of cervical lymph nodes in infants and young children. The principal symptoms are fever, congestion of the ocular conjunctivae, reddening of the lips and oral cavity, protuberance of tongue papillae, and edema or erythema of the extremities.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004246 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004246 "DOID:13378") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004246 "MeSH:D009080") @@ -119024,7 +118866,6 @@ SubClassOf(efo:EFO_0004260 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00014 # Class: efo:EFO_0004261 (osteitis deformans) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004261 "A disease marked by repeated episodes of increased bone resorption followed by excessive attempts at repair, resulting in weakened, deformed bones of increased mass. The resultant architecture of the bone assumes a mosaic pattern in which the fibers take on a haphazard pattern instead of the normal parallel symmetry.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004261 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004261 "ICD10:M88") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004261 "MeSH:D010001") @@ -119040,7 +118881,6 @@ SubClassOf(efo:EFO_0004261 efo:EFO_0004260) # Class: efo:EFO_0004262 (panic disorder) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004262 "A type of anxiety disorder characterized by unexpected panic attacks that last minutes or, rarely, hours. Panic attacks begin with intense apprehension, fear or terror and, often, a feeling of impending doom. Symptoms experienced during a panic attack include dyspnea or sensations of being smothered; dizziness, loss of balance or faintness; choking sensations; palpitations or accelerated heart rate; shakiness; sweating; nausea or other form of abdominal distress; depersonalization or derealization; paresthesias; hot flashes or chills; chest discomfort or pain; fear of dying and fear of not being in control of oneself or going crazy. Agoraphobia may also develop. Similar to other anxiety disorders, it may be inherited as an autosomal dominant trait.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004262 "Dani Welter") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004262 "Gautier Koscielny") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004262 "DOID:594") @@ -119156,7 +118996,6 @@ SubClassOf(efo:EFO_0004267 efo:EFO_0001422) # Class: efo:EFO_0004268 (sclerosing cholangitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004268 "Chronic inflammatory disease of the BILIARY TRACT. It is characterized by fibrosis and hardening of the intrahepatic and extrahepatic biliary ductal systems leading to bile duct strictures, CHOLESTASIS, and eventual BILIARY CIRRHOSIS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004268 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004268 "DOID:14268") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004268 "MeSH:D015209") @@ -121184,12 +121023,12 @@ SubClassOf(efo:EFO_0004508 ObjectSomeValuesFrom(obo:IAO_0000136 obo:UBERON_00014 # Class: efo:EFO_0004509 (hemoglobin measurement) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004509 "Hemoglobin measurement is a measure of the quantity of the metallo protein hemoglobin in blood often used in the diagnosis of anaemia.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004509 "hemoglobin levels") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004509 "Helen Parkinson") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004509 "NCIt:C64848") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0004509 "Hb") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0004509 "haemoglobin measurement") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0004509 "hemoglobin count") +AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0004509 "hemoglobin levels") AnnotationAssertion(rdfs:label efo:EFO_0004509 "hemoglobin measurement") SubClassOf(efo:EFO_0004509 efo:EFO_0001444) SubClassOf(efo:EFO_0004509 efo:EFO_0004503) @@ -121558,7 +121397,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0004538 "true"^^xsd:boolean) # Class: efo:EFO_0004540 (chronic fatigue syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004540 "A syndrome characterized by persistent or recurrent fatigue, diffuse musculoskeletal pain, sleep disturbances, and subjective cognitive impairment of 6 months duration or longer. Symptoms are not caused by ongoing exertion; are not relieved by rest; and result in a substantial reduction of previous levels of occupational, educational, social, or personal activities. Minor alterations of immune, neuroendocrine, and autonomic function may be associated with this syndrome. There is also considerable overlap between this condition and FIBROMYALGIA. (From Semin Neurol 1998;18(2):237-42; Ann Intern Med 1994 Dec 15;121(12): 953-9)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004540 "Gautier Koscielny") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004540 "Helen Parkinson") AnnotationAssertion(efo:definition_citation efo:EFO_0004540 "D015673") @@ -121665,7 +121503,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0004561 "true"^^xsd:boolean) # Class: efo:EFO_0004562 (cryptorchidism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004562 "Cryptorchidism (derived from the Greek κρυπτός, kryptos, meaning hidden and ὄρχις, orchis, meaning testicle) is the absence of one or both testes from the scrotum. It is the most common birth defect regarding male genitalia. In unique cases, cryptorchidism can develop later in life, often as late as young adulthood. About 3% of full-term and 30% of premature infant boys are born with at least one undescended testis. However, about 80% of cryptorchid testes descend by the first year of life (the majority within three months), making the true incidence of cryptorchidism around 1% overall. Cryptorchidism is distinct from monorchism the condition of having only one testicle.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004562 "Helen Parkinson") AnnotationAssertion(efo:definition_citation efo:EFO_0004562 "http://en.wikipedia.org/wiki/Cryptorchidism") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004562 "DOID:11383") @@ -122194,7 +122031,6 @@ SubClassOf(efo:EFO_0004607 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00021 # Class: efo:EFO_0004608 (cystic fibrosis associated meconium ileus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004608 "Cystic fibrosis associated meconium ileus is a thickening and congestion of the meconium in the ileum in newborns, often the first sign of cystic fibrosis. In cystic fibrosis, the meconium can form a bituminous black-green mechanical obstruction in a segment of the ileum. Beyond this there may be a few separate grey-white globular pellets. Below this level, the bowel is a narrow and empty micro-colon. Above the level of the obstruction, there are several loops of hypertrophied bowel distended with fluid. No meconium is passed, and abdominal distension and vomiting appear soon after birth. About 20% of cases of cystic fibrosis present with meconium ileus, while approximately 20% of one series of cases of meconium ileus did not have cystic fibrosis The presence of meconium ileus is not related to the severity of the cystic fibrosis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004608 "Helen Parkinson") AnnotationAssertion(efo:definition_citation efo:EFO_0004608 "http://en.wikipedia.org/wiki/Meconium_ileus#Meconium_ileus") AnnotationAssertion(rdfs:label efo:EFO_0004608 "cystic fibrosis associated meconium ileus") @@ -122810,7 +122646,6 @@ SubClassOf(efo:EFO_0004682 ObjectSomeValuesFrom(obo:IAO_0000136 obo:UBERON_00045 # Class: efo:EFO_0004683 (wet macular degeneration) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004683 "A form of RETINAL DEGENERATION in which abnormal CHOROIDAL NEOVASCULARIZATION occurs under the RETINA and MACULA LUTEA, causing bleeding and leaking of fluid. This leads to bulging and or lifting of the macula and the distortion or destruction of central vision.") AnnotationAssertion(efo:definition_citation efo:EFO_0004683 "D057135") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004683 "DOID:10873") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004683 "MeSH:D057135") @@ -123076,7 +122911,6 @@ SubClassOf(efo:EFO_0004704 ObjectSomeValuesFrom(obo:IAO_0000136 obo:GO_0042697)) # Class: efo:EFO_0004705 (hypothyroidism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004705 "A deficiency of thyroid hormone.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004705 "Helen Parkinson") AnnotationAssertion(efo:definition_citation efo:EFO_0004705 "http://purl.obolibrary.org/obo/HP_0000821") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004705 "DOID:1459") @@ -123151,7 +122985,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0004709 "true"^^xsd:boolean) # Class: efo:EFO_0004710 (pelvic organ prolapse) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004710 "Abnormal descent of a pelvic organ resulting in the protrusion of the organ beyond its normal anatomical confines.") AnnotationAssertion(efo:definition_citation efo:EFO_0004710 "D056887") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004710 "MeSH:D056887") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004710 "SNOMEDCT:237113009") @@ -123176,7 +123009,6 @@ SubClassOf(efo:EFO_0004710 efo:EFO_0000512) # Class: efo:EFO_0004711 (elephantiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004711 "Elephantiasis is a result of a complex interplay between several factors: the worm, the symbiotic Wolbachia bacteria within the worm, the host’s immune response, and the numerous opportunistic infections and disorders that arise.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004711 "DOID:4976") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004711 "MeSH:D004604") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004711 "MedDRA:10014472") @@ -123265,8 +123097,6 @@ SubClassOf(efo:EFO_0004718 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00034 # Class: efo:EFO_0004719 (pemphigus vulgaris) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004719 "An autoimmune blistering disorder. It is characterized by the presence of painful blisters and erosions in the skin and mucous membranes.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004719 "Pemphigus vulgaris is a rare chronic blistering skin disease and the most common form of pemphigus.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004719 "Helen Parkinson") AnnotationAssertion(efo:definition_citation efo:EFO_0004719 "http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#Pemphigus_Vulgaris") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004719 "MedDRA:10052802") @@ -123816,7 +123646,6 @@ SubClassOf(efo:EFO_0004774 obo:GO_0007610) # Class: efo:EFO_0004775 (toxic epidermal necrolysis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004775 "An exfoliative disease of skin seen primarily in adults and characterized by flaccid bullae and spreading erythema so that the skin has the appearance of being scalded. It results primarily from a toxic reaction to various drugs, but occasionally occurs as a result of infection, neoplastic conditions, or other exposure.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004775 "Helen Parkinson") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004775 "ICD9:695.15") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004775 "MedDRA:10043221") @@ -124355,7 +124184,6 @@ SubClassOf(efo:EFO_0004832 ObjectSomeValuesFrom(obo:IAO_0000136 obo:UBERON_00010 # Class: efo:EFO_0004833 (neutrophil count) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004833 "Is a quantification of neutrophils in blood.") AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004833 "The number of granulocytes (polymorphonuclear leukocytes) in a specified volume of blood, usually 1 cubic millimeter.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004833 "Helen Parkinson") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004833 "CMO:0000030") @@ -125566,7 +125394,6 @@ SubClassOf(efo:EFO_0004990 ObjectSomeValuesFrom(obo:RO_0001000 ObjectIntersectio # Class: efo:EFO_0004991 (Myasthenia gravis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004991 "A disorder of neuromuscular transmission characterized by weakness of cranial and skeletal muscles. Autoantibodies directed against acetylcholine receptors damage the motor endplate portion of the neuromuscular junction, impairing the transmission of impulses to skeletal muscles. Clinical manifestations may include diplopia, ptosis, and weakness of facial, bulbar, respiratory, and proximal limb muscles. The disease may remain limited to the ocular muscles. THYMOMA is commonly associated with this condition. (Adams et al., Principles of Neurology, 6th ed, p1459)") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004991 "DOID:437") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004991 "ICD10:G70") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004991 "ICD9:358.0") @@ -125582,7 +125409,6 @@ SubClassOf(efo:EFO_0004991 efo:EFO_1002003) # Class: efo:EFO_0004992 (Otitis media) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004992 "An acute or chronic inflammatory process affecting the middle ear.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004992 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004992 "DOID:10754") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004992 "MeSH:D010033") @@ -125607,7 +125433,6 @@ SubClassOf(efo:EFO_0004993 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0002616) # Class: efo:EFO_0004994 (lumbar disc degeneration) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0004994 "lumbar disc degeneration is a degeneration of one or more intervertebral disc(s) of the spine.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0004994 "James Malone") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004994 "DOID:90") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0004994 "MeSH:C535531") @@ -126724,7 +126549,6 @@ SubClassOf(efo:EFO_0005138 efo:EFO_0005137) # Class: efo:EFO_0005139 (serum ceruloplasmin measurement) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005139 "Quantification of some ceruloplasmin in the blood. ") AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005139 "Quantification of some ceruloplasmin in the blood. Ceruloplasmin is a copper containing enzyme synthesized in tge liver that plays a role in iron metabolism and Copper ion transport. It is measured in combination with copper tests in the diagnosis of Wilson's disease. Ceruloplasmin is a copper containing enzyme that plays a role in iron metabolism measured in combination with copper tests in the diagnosis of Wilson's disease.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005139 "Dani Welter") AnnotationAssertion(efo:definition_citation efo:EFO_0005139 "http://labtestsonline.org.uk/understanding/analytes/caeruloplasmin") @@ -127501,7 +127325,6 @@ SubClassOf(efo:EFO_0005223 efo:EFO_0010098) # Class: efo:EFO_0005224 (Q fever) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005224 " bacterial infection caused by Coxiella burnetii. It is transmitted to humans by the inhalation of infected air particles or contact with fluids and feces of infected animals. Signs and symptoms include the abrupt onset of fever, headache, myalgias, and weakness.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005224 "Helen Parkinson") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005224 "DOID:11100") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005224 "ICD9:083.0") @@ -127527,7 +127350,6 @@ SubClassOf(efo:EFO_0005225 obo:DOID_10113) # Class: efo:EFO_0005226 (swine influenza) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005226 "An influenza that results_in infection located_in respiratory tract of pigs and humans, has_material_basis_in Influenza C virus, or has_material_basis_in Influenza A virus subtypes (H1N1, H1N2, H3N1, H3N2, and H2N3), which are transmitted_by direct contact with infected pigs. The infection in humans has_symptom fever, has_symptom lethargy, has_symptom lack of appetite, has_symptom coughing, has_symptom runny nose, has_symptom sore throat, has_symptom nausea, has_symptom vomiting, and has_symptom diarrhea.") AnnotationAssertion(efo:definition_citation efo:EFO_0005226 "http://en.wikipedia.org/wiki/Swine_influenza") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005226 "DOID:0050211") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005226 "MedDRA:10069500") @@ -127730,7 +127552,6 @@ SubClassOf(efo:EFO_0005238 obo:OBI_0000181) # Class: efo:EFO_0005239 (aortic valve calcification) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005239 "calcification of the aortic valve") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005239 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005239 "MedDRA:10050559") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005239 "SNOMEDCT:250978003") @@ -127850,7 +127671,6 @@ SubClassOf(efo:EFO_0005252 efo:EFO_0005251) # Class: efo:EFO_0005253 (postprandial hypotension) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005253 "drastic decline in blood pressure which happens after eating a meal and most likely due to insufficient compensation in cardiac output by the autonomic nervous sytem for the diversion of blood to the intestines ") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005253 "Dani Welter") AnnotationAssertion(rdfs:label efo:EFO_0005253 "postprandial hypotension") SubClassOf(efo:EFO_0005253 efo:EFO_0005251) @@ -128324,7 +128144,6 @@ SubClassOf(efo:EFO_0005306 efo:EFO_0004269) # Class: efo:EFO_0005307 (torsades de pointes) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005307 "A type of ventricular tachycardia characterized by polymorphioc QRS complexes that change in amplitue and cycle length, and thus have the appearance of oscillating around the baseline in the EKG.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005307 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005307 "HP:0001664") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005307 "MeSH:D016171") @@ -128405,7 +128224,6 @@ SubClassOf(efo:EFO_0005318 ObjectSomeValuesFrom(obo:IAO_0000136 obo:UBERON_00009 # Class: efo:EFO_0005319 (contact dermatitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005319 "a type of skin inflammation (dermatitis) that results from exposure to allergens (allergic contact dermatitis) or irritants (irritant contact dermatitis)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005319 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005319 "DOID:2773") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005319 "ICD10:L25") @@ -129051,7 +128869,6 @@ SubClassOf(efo:EFO_0005399 efo:EFO_0005397) # Class: efo:EFO_0005400 (chemotherapy-induced alopecia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005400 "hair loss as a result of chemotherapy treatment") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005400 "Dani Welter") AnnotationAssertion(rdfs:label efo:EFO_0005400 "chemotherapy-induced alopecia") SubClassOf(efo:EFO_0005400 efo:EFO_0000408) @@ -129152,7 +128969,6 @@ SubClassOf(efo:EFO_0005409 efo:EFO_0004302) # Class: efo:EFO_0005410 (tooth agenesis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005410 "Failure of some or all of an individual's teeth to develop.It occurs most often in the third molar (wisdom tooth).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005410 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005410 "DOID:0050591") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005410 "ICD10:K00") @@ -129992,7 +129808,6 @@ SubClassOf(efo:EFO_0005518 obo:OBI_0000272) # Class: efo:EFO_0005519 (dissection protocol) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005519 "Describes the procedure which dissects biological materials into anatomical sub-components, e.g. specific organs or tissues.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005519 "describes the procedure for dissection.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005519 "Drashtti Vasant") AnnotationAssertion(rdfs:label efo:EFO_0005519 "dissection protocol") SubClassOf(efo:EFO_0005519 obo:OBI_0000272) @@ -130027,7 +129842,6 @@ SubClassOf(efo:EFO_0005523 obo:IAO_0000030) # Class: efo:EFO_0005524 (large artery stroke) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005524 "stroke caused by the blockage of blood flow in one of the large arteries feeding the brain") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005524 "PMID:7678184") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0005524 "atherosclerotic stroke") AnnotationAssertion(rdfs:label efo:EFO_0005524 "large artery stroke") @@ -130080,7 +129894,6 @@ SubClassOf(efo:EFO_0005530 ObjectSomeValuesFrom(obo:IAO_0000136 obo:DOID_10113)) # Class: efo:EFO_0005531 (urticaria) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005531 "Urticaria is a kind of skin rash notable for pale red, raised, itchy bumps that might also cause a burning or stinging sensation. It is often but not necessarily caused by an allergic reaction.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005531 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005531 "DOID:1555") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005531 "ICD10:L50") @@ -130315,7 +130128,6 @@ SubClassOf(efo:EFO_0005548 efo:EFO_0000677) # Class: efo:EFO_0005549 (diphtheria) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005549 "A primary bacterial infectious disease that is characterized by sore throat, low fever, and an adherent membrane (a pseudomembrane) on the tonsils, pharynx, and/or nasal cavity. A milder form of diphtheria can be restricted to the skin. It is caused by Corynebacterium diphtheriae, an aerobic Gram-positive bacterium. Diphtheria toxin spreads through the bloodstream and can lead to potentially life-threatening complications that affect other organs of the body, such as the heart and kidneys.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005549 "DOID:11405") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005549 "ICD9:032") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005549 "MeSH:D004165") @@ -130403,7 +130215,6 @@ SubClassOf(efo:EFO_0005555 efo:EFO_0000540) # Class: efo:EFO_0005556 (Gilbert syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005556 "A bilirubin metabolic disorder that involves elevated levels of unconjugated bilirubin as bilirubin is not being conjugated as a result of reduced glucuronyltransferase activity.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005556 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005556 "DOID:2739") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005556 "MeSH:D005878") @@ -130610,7 +130421,6 @@ SubClassOf(efo:EFO_0005568 efo:EFO_0000508) # Class: efo:EFO_0005569 (microphthalmia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005569 "An eye disease where one or both eyeballs are abnormally small.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005569 "Catherine Leroy") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005569 "DOID:10629") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005569 "ICD9:743.1") @@ -130781,7 +130591,6 @@ SubClassOf(efo:EFO_0005577 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00010 # Class: efo:EFO_0005578 (pituitary cancer) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005578 "An endocrine gland cancer located_in the pituitary gland located at the base of the brain.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005578 "DOID:1785") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005578 "NCIt:C3330") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0005578 "Pituitary gland neoplasm") @@ -130891,9 +130700,6 @@ SubClassOf(efo:EFO_0005583 ObjectSomeValuesFrom(obo:RO_0001000 efo:EFO_0003762)) # Class: efo:EFO_0005584 (seborrheic keratosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005584 "seborrheic keratosis is a noncancerous benign skin growth that originates in keratinocytes. Like liver spots, seborrheic keratoses are seen more often as people age. In fact, they are sometimes humorously referred to as the \"barnacles of old age\". - -The lesions appear in various colors, from light tan to black. They are round or oval, feel flat or slightly elevated (like the scab from a healing wound), and range in size from very small to more than 2.5 centimetres (1 in) across. They can resemble warts,[4] though they have no viral origins. They can also resemble melanoma skin cancer, though they are unrelated to melanoma. Because only the top layers of the epidermis are involved, seborrheic keratoses are often described as having a \"pasted on\" appearance.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005584 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005584 "DOID:6498") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005584 "ICD10:L82") @@ -131022,7 +130828,6 @@ SubClassOf(efo:EFO_0005592 efo:EFO_0004289) # Class: efo:EFO_0005593 (tetanus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005593 "A primary bacterial infectious disease that results_in prolonged contraction of skeletal muscle fibers, has_material_basis_in Clostridium tetani, which produces tetanospasmin, a neurotoxin, which is carried to the brain and spinal cord, where it binds irreversibly to receptors inhibiting neurotransmission. Damaged upper motor neurons cannot control reflex responses to afferent sensory stimuli.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005593 "DOID:11338") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005593 "ICD9:037") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005593 "MeSH:D013742") @@ -131212,7 +131017,6 @@ SubClassOf(efo:EFO_0005620 obo:OBI_0600002) # Class: efo:EFO_0005622 (Crohn's colitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005622 "Crohn's colitis is a type of Crohn's disease that affects the large intestine.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005622 "DOID:0060192") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005622 "MedDRA:10011400") AnnotationAssertion(rdfs:label efo:EFO_0005622 "Crohn's colitis") @@ -131257,7 +131061,6 @@ SubClassOf(efo:EFO_0005626 efo:EFO_0000729) # Class: efo:EFO_0005627 (perianal Crohn's disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005627 "Perianal Crohn's disease is a type of Crohn's disease affecting the anus.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005627 "SNOMEDCT:235796008") AnnotationAssertion(rdfs:label efo:EFO_0005627 "perianal Crohn's disease") SubClassOf(efo:EFO_0005627 efo:EFO_0000384) @@ -131278,7 +131081,6 @@ SubClassOf(efo:EFO_0005628 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00010 # Class: efo:EFO_0005629 (small bowel Crohn's disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005629 "Small bowel Crohn's disease is a chronic inflammatory bowel disease affecting the small instestine.") AnnotationAssertion(rdfs:label efo:EFO_0005629 "small bowel Crohn's disease") SubClassOf(efo:EFO_0005629 efo:EFO_0000384) SubClassOf(efo:EFO_0005629 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_0002108)) @@ -132186,7 +131988,6 @@ EquivalentClasses(efo:EFO_0005671 ObjectIntersectionOf(efo:EFO_0001444 ObjectSom # Class: efo:EFO_0005672 (acute coronary syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005672 "A disorder characterized by signs and symptoms related to acute ischemia of the myocardium secondary to coronary artery disease. The clinical presentation covers a spectrum of heart diseases from unstable angina to myocardial infarction.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005672 "MeSH:D054058") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005672 "MedDRA:10051592") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005672 "NCIt:C53652") @@ -132248,7 +132049,6 @@ SubClassOf(efo:EFO_0005677 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0001382) # Class: efo:EFO_0005678 (hippocampal sclerosis of aging) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005678 "age-related neuropathological condition with severe neuronal cell loss and gliosis in the hippocampus") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005678 "Dani Welter") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0005678 "HS") AnnotationAssertion(rdfs:label efo:EFO_0005678 "hippocampal sclerosis of aging") @@ -133131,7 +132931,6 @@ SubClassOf(efo:EFO_0005752 ObjectSomeValuesFrom(obo:BFO_0000066 obo:UBERON_00009 # Class: efo:EFO_0005753 (ocular vascular disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005753 "a disease that occurs in the vasculature of the eye") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005753 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005753 "NCIt:C35664") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0005753 "disorder of the ocular vasculature") @@ -133360,7 +133159,6 @@ SubClassOf(efo:EFO_0005772 ObjectSomeValuesFrom(obo:BFO_0000054 ObjectIntersecti # Class: efo:EFO_0005773 (retinal detachment) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005773 "Retinal detachment is a disorder of the eye in which the retina peels away from its underlying layer of support tissue. Initial detachment may be localized or broad, but without rapid treatment the entire retina may detach, leading to vision loss and blindness.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005773 "Helen Parkinson") AnnotationAssertion(efo:definition_citation efo:EFO_0005773 "http://en.wikipedia.org/wiki/Retinal_detachment") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005773 "DOID:5327") @@ -134014,7 +133812,6 @@ SubClassOf(efo:EFO_0005845 ObjectSomeValuesFrom(obo:IAO_0000136 obo:CHEBI_36080) # Class: efo:EFO_0005846 (cryoglobulinemia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0005846 "A condition characterized by the presence of cryoglobulins in the blood. Cryoglobulins are abnormal proteins that precipitate within the microvasculature on exposure to cold; microvasculature effects of cryoglobulinemia may result in restricted tissue blood flow, tissue hypoxia, and tissue necrosis. --2004") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0005846 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005846 "DOID:2917") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0005846 "MeSH:D003449") @@ -135742,7 +135539,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0006345 "true"^^xsd:boolean) # Class: efo:EFO_0006346 (severe cutaneous adverse reaction) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0006346 "Group of severe, sometimes life-threatening skin reactions that are often drug-induced. Severe cutaneous adverse reactions (SCARs) include: Erythema multiforme, Stevens-Johnson syndrome, toxic epidermal necrolysis, drug reaction with eosinophilia and systemic symptoms, and acute generalized exanthematous pustulosis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0006346 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0006346 "NCIt:C34483") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0006346 "SNOMEDCT:12402003") @@ -136222,7 +136018,6 @@ SubClassOf(efo:EFO_0006390 ObjectSomeValuesFrom(obo:RO_0001000 ObjectIntersectio # Class: efo:EFO_0006391 (dopaminergic neuroblastoma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0006391 "a neuroblastoma associated with increased dopamine excretion.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0006391 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0006391 "PMID:3385588") AnnotationAssertion(rdfs:label efo:EFO_0006391 "dopaminergic neuroblastoma") @@ -140842,7 +140637,6 @@ SubClassOf(efo:EFO_0006788 efo:EFO_0000677) # Class: efo:EFO_0006789 (typhoid fever) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0006789 "A primary bacterial infectious disease that is a communicable systemic illness, has_material_basis_in Salmonella enterica subsp enterica serovar Typhi, which is transmitted_by ingestion of food or water contaminated with the feces of an infected person. The infection has_symptom fever, has_symptom diarrhea, has_symptom prostration, has_symptom headache, has_symptom splenomegaly, has_symptom liver enlargement, has_symptom eruption of rose-colored spots, and has_symptom leukopenia.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0006789 "DOID:13258") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0006789 "ICD9:002.0") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0006789 "MeSH:D014435") @@ -143795,7 +143589,6 @@ SubClassOf(efo:EFO_0007128 efo:EFO_0000771) # Class: efo:EFO_0007129 (acute chest syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007129 "A lung disease that involves a vasoocclusive crisis of the pulmonary vasculature seen in patients with sickle cell anemia. The crisis is initiated by a lung infection, and the resulting inflammation and loss of oxygen tension leads to sickling of red cells and further vasoocclusion. The disease has_symptom fever, has_symptom pleuritic chest pain, has_symptom tachypnea, has_symptom cough, has_symptom hypoxemia, has_symptom marked leukocytosis, and has_symptom diffuse infiltrates on chest radiograph.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007129 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007129 "DOID:1584") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007129 "MeSH:D056586") @@ -143807,7 +143600,6 @@ SubClassOf(efo:EFO_0007129 efo:EFO_0003818) # Class: efo:EFO_0007130 (acute disseminated encephalomyelitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007130 "An encephalomyelitis characterized by inflammation located_in brain and located_in spinal cord that damages myelin. It usually occurs after viral infection, but also following vaccination, bacterial or parasitic infection.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007130 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007130 "DOID:639") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007130 "MeSH:D004673") @@ -143822,7 +143614,6 @@ SubClassOf(efo:EFO_0007130 efo:EFO_0001423) # Class: efo:EFO_0007131 (acute hemorrhagic conjunctivitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007131 "A viral infectious disease that results_in inflammation located in conjunctiva, has_material_basis_in Human coxsackievirus A24 or has_material_basis_in Human enterovirus 70, which are transmitted_by contaminated fomites or transmitted_by contact with contaminated hands. The infection has_symptom vascular dilation, has_symptom eyelid edema, has_symptom photophobia, has_symptom redness of the eyes, has_symptom watering of the eye, has_symptom conjunctival congestion, and has_symptom superficial punctate epithelial keratitis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007131 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007131 "DOID:11227") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007131 "MeSH:D003232") @@ -144052,7 +143843,6 @@ SubClassOf(efo:EFO_0007143 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007144 (amebiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007144 "A parasitic protozoa infectious disease that involves infection caused by the amoeba Entamoeba histolytica. Amebic invasion of the intestinal lining causes dysentery, colitis or diarrhea. The infection can also spread through the blood to the liver and, rarely, to the lungs, brain or other organs.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007144 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007144 "DOID:9181") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007144 "ICD10:A06") @@ -144094,7 +143884,6 @@ SubClassOf(efo:EFO_0007146 efo:EFO_0009561) # Class: efo:EFO_0007147 (anogenital venereal wart) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007147 "A viral infectious disease that results_in infection located_in skin of vagina, cervix, uterus, anus, penis, scrotum, mouth, and throat, has_material_basis_in human papillomaviruses (types 6 and 11), which are transmitted_by direct contact with the skin during oral, genital, or anal sex with an infected partner. The infection has_symptom anogenital warts.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007147 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007147 "DOID:11168") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007147 "MeSH:D003218") @@ -144151,7 +143940,6 @@ SubClassOf(efo:EFO_0007149 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007150 (Arenaviridae infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007150 "A (-)ssRNA virus infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007150 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007150 "DOID:3944") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007150 "MeSH:D001117") @@ -144268,7 +144056,6 @@ SubClassOf(efo:EFO_0007159 efo:EFO_0000684) # Class: efo:EFO_0007160 (autoimmune thrombocytopenic purpura) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007160 "A primary thrombocytopenia that involves relatively few platelets in blood as a result of autoantibodies.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007160 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007160 "DOID:8924") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007160 "MeSH:D016553") @@ -144309,7 +144096,6 @@ SubClassOf(efo:EFO_0007162 efo:EFO_0001067) # Class: efo:EFO_0007163 (balantidiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007163 "A parasitic protozoa infectious disease involving infection caused by Balantidium coli. The trophozoites are capable of attacking the intestinal epithelium, creating ulcers and causing bloody diarrhea. The infectiou has_symptom cramping, has_symptom abdominal pain, has_symptom nausea and has_symptom foul breath.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007163 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007163 "DOID:12386") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007163 "MeSH:D001447") @@ -144335,7 +144121,6 @@ SubClassOf(efo:EFO_0007164 efo:EFO_1002050) # Class: efo:EFO_0007165 (Barre-Lieou syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007165 "A syndrome that involves occipital head aches, nystagmus on head movement, tinnitus, spasms, blurred vision, corneal hyperaesthesia, and corneal ulcers.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007165 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007165 "DOID:6692") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007165 "MeSH:D055010") @@ -144433,7 +144218,6 @@ SubClassOf(efo:EFO_0007171 efo:EFO_0005741) # Class: efo:EFO_0007172 (blackwater fever) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007172 "A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007172 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007172 "DOID:14068") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007172 "MeSH:D001742") @@ -144458,7 +144242,6 @@ SubClassOf(efo:EFO_0007173 efo:EFO_0009561) # Class: efo:EFO_0007174 (blastomycosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007174 "A primary systemic mycosis that results_in a systemic fungal infection, has_material_basis_in Blastomyces dermatitidis, transmitted_by airborne spores and has_symptom skin lesions, has_symptom lung lesions and has_symptom pleural thickening.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007174 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007174 "DOID:12663") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007174 "MeSH:D001759") @@ -144479,7 +144262,6 @@ SubClassOf(efo:EFO_0007174 efo:EFO_0005741) # Class: efo:EFO_0007175 (blind loop syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007175 "An intestinal disease characterized by a dysbalance of the bacterial flora of the small intestine, causing derangement to the normal physiological processes of digestion and absorption.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007175 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007175 "DOID:10606") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007175 "MeSH:D001765") @@ -144535,7 +144317,6 @@ SubClassOf(efo:EFO_0007176 efo:EFO_0000691) # Class: efo:EFO_0007177 (border disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007177 "A viral infectious disease that results_in infection in sheep and goats, has_material_basis_in Border disease virus, which is transmitted_by congenital method. The infection has_symptom abortion, has_symptom stillbirth, has_symptom hairy fleece in lambs, and has_symptom abnormal body conformation.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007177 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007177 "DOID:4804") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007177 "MeSH:D001882") @@ -144583,7 +144364,6 @@ AnnotationAssertion(rdfs:label efo:EFO_0007180 "bovine respiratory disease compl # Class: efo:EFO_0007181 (bovine virus diarrhea-mucosal disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007181 "A viral infectious disease that results_in infection in cattle, located_in intestine, has_material_basis_in Bovine viral diarrhea virus 1, which is transmitted_by ingestion of infected food, or transmitted_by nasal secretions. The infection has_symptom lesions in the mucosa of digestive tract, has_symptom necrosis of lymphoid tissue, has_symptom hoof inflammation and dermatitis, and has_symptom diarrhea.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007181 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007181 "DOID:5115") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007181 "MeSH:D001912") @@ -144607,7 +144387,6 @@ SubClassOf(efo:EFO_0007182 efo:EFO_0009117) # Class: efo:EFO_0007183 (bronchiolitis obliterans) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007183 "A obstructive lung disease involving obstruction of the bronchioles due to inflammation and fibrosis which occurs as a complication of various lung conditions or physiological insults.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007183 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007183 "DOID:2799") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007183 "MeSH:D001989") @@ -144621,7 +144400,6 @@ SubClassOf(efo:EFO_0007183 efo:EFO_0004244) # Class: efo:EFO_0007184 (bronchopneumonia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007184 "A pneumonia involving inflammation of lungs that begins in the terminal bronchioles, which become clogged with thick mucus that forms consolidated patches in adjacent lobules. It is caused by bacteria and viruses.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007184 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007184 "DOID:12375") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007184 "MeSH:D001996") @@ -144636,7 +144414,6 @@ SubClassOf(efo:EFO_0007184 efo:EFO_0003106) # Class: efo:EFO_0007185 (brucellosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007185 "A primary bacterial infectious disease that is caused by the bacteria of the genus Brucella, when humans come in contact with contaminated animals or animal products or ingestion of infected food products. The disease has_symptom fever, has_symptom sweat, has_symptom headache, has_symptom back pain, has_symptom physical weakness, has_symptom joint pain and has_symptom fatigue.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007185 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007185 "DOID:11077") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007185 "MeSH:D002006") @@ -144687,7 +144464,6 @@ SubClassOf(efo:EFO_0007188 efo:EFO_0000763) # Class: efo:EFO_0007189 (Caliciviridae infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007189 "A (+)ssRNA virus infectious disease that results_in infection in animals and humans, has_material_basis_in Caliciviridae viruses.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007189 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007189 "DOID:4091") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007189 "MeSH:D017250") @@ -144697,7 +144473,6 @@ SubClassOf(efo:EFO_0007189 efo:EFO_0000763) # Class: efo:EFO_0007190 (campylobacteriosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007190 "A primary bacterial infectious disease that results_in infection located_in intestine, has_material_basis_in Campylobacter jejuni, which is transmitted_by ingestion of contaminated food or water or transmitted_by contact with infected people or animals. The infection has_symptom diarrhea or has_symptom dysentery, has_symptom abdominal cramps and pain, and has_symptom fever.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007190 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007190 "DOID:13622") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007190 "MeSH:D002169") @@ -144850,7 +144625,6 @@ SubClassOf(efo:EFO_0007199 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007200 (cerebral toxoplasmosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007200 "A toxoplasmosis that occurs in patients with AIDS or weakened immune system, who develop the infection due to reactivation, present with ring-enhancing intracranial mass lesions or encephalitis. The symptoms include headache, altered mental status, seizures, coma, fever, motor or sensory loss, cranial nerve palsies, visual abnormalities, and focal seizures.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007200 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007200 "DOID:10551") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007200 "MeSH:D016781") @@ -144879,7 +144653,6 @@ SubClassOf(efo:EFO_0007201 efo:EFO_0003833) # Class: efo:EFO_0007202 (cervical incompetence) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007202 "A cervix disease that is characterized by the beginning of dilation and effacement of a pregnant woman's cervix before her pregnancy has reached term.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007202 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007202 "DOID:9681") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007202 "MeSH:D002581") @@ -144896,7 +144669,6 @@ SubClassOf(efo:EFO_0007202 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007203 (cervicofacial actinomycosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007203 "An actinomycosis that involves invasion and infiltration located_in head and located_in neck, has_material_basis_in Actinomyces israelii. The infection results_in_formation_of abscesses following oral surgery or in patients with poor dental hygiene.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007203 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007203 "DOID:12633") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007203 "MeSH:D000197") @@ -144922,7 +144694,6 @@ SubClassOf(efo:EFO_0007204 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007205 (Chlamydia trachomatis infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007205 "A commensal Chlamydiaceae infectious disease that is caused by a member of the genus Chlamydia, specifically C. trachomatis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007205 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007205 "DOID:11263") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007205 "MeSH:D002690") @@ -145028,7 +144799,6 @@ SubClassOf(efo:EFO_0007211 efo:EFO_0005741) # Class: efo:EFO_0007212 (coccidiosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007212 "A parasitic protozoa infectious disease that occurs in the intestinal tract of animals and humans caused by Coccidia protozoa. Immunocompromised persons are at greater risk of developing the infection.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007212 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007212 "DOID:2113") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007212 "MeSH:D003048") @@ -145122,7 +144892,6 @@ SubClassOf(efo:EFO_0007217 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007218 (congenital rubella) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007218 "A rubella that results_in infection has_material_basis_in Rubella virus, which is transmitted_by congenital method to the developing fetus of a pregnant woman who has contracted rubella during her first trimester.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007218 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007218 "DOID:9228") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007218 "MeSH:D012410") @@ -145137,7 +144906,6 @@ SubClassOf(efo:EFO_0007218 efo:EFO_0000763) # Class: efo:EFO_0007219 (congenital syphilis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007219 "A syphilis that results_in a multisystem infection in the fetus via the placenta.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007219 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007219 "DOID:9856") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007219 "MeSH:D013590") @@ -145190,7 +144958,6 @@ SubClassOf(efo:EFO_0007222 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007223 (Coronaviridae infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007223 "A Nidovirales infectious disease that results_in infection in animals and humans, has_material_basis_in Coronaviridae viruses, which is transmitted_by droplet spread of respiratory secretions or transmitted_by ingestion of contaminated food.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007223 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007223 "DOID:2948") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007223 "MeSH:D003333") @@ -145224,7 +144991,6 @@ SubClassOf(efo:EFO_0007225 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007226 (coxsackievirus infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007226 "An Enterovirus infectious disease that results_in infection, has_material_basis_in group A coxsackievirus or has_material_basis_in group B coxsackievirus, which are transmitted_by ingestion of food contaminated with feces, transmitted_by contact with pharyngeal secretions, or transmitted_by droplet spread of oronasal secretions. The infection has_symptom paralysis, has_symptom myositis, and has_symptom degeneration of neuronal tissue.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007226 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007226 "DOID:10545") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007226 "MeSH:D003384") @@ -145234,7 +145000,6 @@ SubClassOf(efo:EFO_0007226 efo:EFO_0005741) # Class: efo:EFO_0007227 (croup) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007227 "A respiratory system infectious disease that involves inflammation, edema, and subsequent obstruction of the larynx, trachea, and bronchi. The disease is caused by viruses, bacteria, allergies and inhaled irritants. It is marked by episodes of difficult breathing and hoarse metallic cough in infants and young children. Croup is caused by parainfluenza virus (types 1 and 2), Influenza A and B viruses, Measles virus, adenovirus, respiratory syncytial virus, Staphylococcus and Streptococcus.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007227 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007227 "DOID:9395") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007227 "MeSH:D003440") @@ -145310,7 +145075,6 @@ SubClassOf(efo:EFO_0007231 efo:EFO_0001067) # Class: efo:EFO_0007232 (cystoisosporiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007232 "A coccidiosis that involves infection of the epithelial cells of the small intestine with Cystoisospora belli, which results in nonbloody diarrhea with crampy abdominal pain, malabsorption and weight loss.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007232 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007232 "DOID:2112") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007232 "MeSH:D021865") @@ -145387,7 +145151,6 @@ SubClassOf(efo:EFO_0007237 efo:EFO_0000701) # Class: efo:EFO_0007238 (diphyllobothriasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007238 "A parasitic helminthiasis infectious disease that involves parasitic infection caused by Diphyllobothrium latum through the consumption of raw or undercooked fish. The symptoms include abdominal discomfort, diarrhea, vomiting, weight loss and vitamin B12 deficiency with pernicious anemia.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007238 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007238 "DOID:10075") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007238 "MeSH:D004169") @@ -145401,7 +145164,6 @@ SubClassOf(efo:EFO_0007238 efo:EFO_0001067) # Class: efo:EFO_0007239 (dirofilariasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007239 "A filariasis that is a zoonotic infection caused by nematodes Dirofilaria immitis or Dirofilaria repens, which are transmitted to humans from dogs, cats, wolves and coyotes by infected mosquitoes. The disease manifests as either subcutaneous nodules or pulmonary lesions.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007239 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007239 "DOID:1082") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007239 "MeSH:D004184") @@ -145452,7 +145214,6 @@ SubClassOf(efo:EFO_0007242 efo:EFO_0001423) # Class: efo:EFO_0007243 (Ebola hemorrhagic fever) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007243 "A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Zaire ebolavirus, has_material_basis_in Sudan ebolavirus, has_material_basis_in Cote d'Ivoire ebolavirus, or has_material_basis_in Bundibugyo ebolavirus, which are transmitted_by contact with the body fluids of an infected animal or person, transmitted_by contaminated fomites, or transmitted_by infected medical equipment. The infection has_symptom fever, has_symptom headache, has_symptom joint pain, has_symptom muscle aches, has_symptom sore throat, has_symptom weakness, has_symptom diarrhea, has_symptom vomiting, has_symptom stomach pain, has_symptom rash, has_symptom red eyes, has_symptom hiccups, and has_symptom internal and external bleeding.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007243 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007243 "DOID:4325") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007243 "MeSH:D019142") @@ -145503,7 +145264,6 @@ SubClassOf(efo:EFO_0007245 efo:EFO_0001067) # Class: efo:EFO_0007246 (echinostomiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007246 "A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007246 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007246 "DOID:1218") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007246 "MeSH:D004451") @@ -145690,7 +145450,6 @@ SubClassOf(efo:EFO_0007258 efo:EFO_0005932) # Class: efo:EFO_0007259 (epidemic pleurodynia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007259 "A viral infectious disease that results_in necrosis located_in intercostal muscle, has_material_basis_in Human enterovirus B. The infection has_symptom severe chest pain, has_symptom fever, has_symptom malaise, has_symptom pleuritis, and has_symptom headache.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007259 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007259 "DOID:10882") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007259 "MeSH:D011000") @@ -145863,7 +145622,6 @@ SubClassOf(efo:EFO_0007269 efo:EFO_0000685) # Class: efo:EFO_0007270 (femoral cancer) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007270 "A bone cancer that is located_in the femur.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007270 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007270 "DOID:5546") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007270 "MeSH:D005266") @@ -145891,7 +145649,6 @@ SubClassOf(efo:EFO_0007271 efo:EFO_0000616) # Class: efo:EFO_0007272 (filarial elephantiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007272 "A filariasis that is characterized by the thickening of the skin and underlying tissues, especially in the legs, male genitals and female breasts, caused by thread-like parasitic worms Wuchereria bancrofti, Brugia malayi or Brugia timori, which inhabit the lymphatics. These nematodes are transmitted by mosquitoes. Acute symptoms include fever, lymphadenitis, lymphangitis, funiculitis, and epididymitis. Chronic symptoms include abscesses, hyperkeratosis, polyarthritis, hydroceles, lymphedema, and elephantiasis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007272 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007272 "DOID:12211") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007272 "MeSH:D004605") @@ -145974,7 +145731,6 @@ SubClassOf(efo:EFO_0007276 ObjectSomeValuesFrom(efo:EFO_0000784 obo:CL_0000451)) # Class: efo:EFO_0007277 (foot and mouth disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007277 "A viral infectious disease that results_in infection in cattle and swine, has_material_basis_in Foot-and-mouth disease virus, which is transmitted_by contaminated fomites, or transmitted_by ingestion of food contaminated with infected meat or animal products. The infection results_in_formation_of vesicles in the mouth, or on the feet and has_symptom lameness.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007277 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007277 "DOID:11261") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007277 "MeSH:D005536") @@ -145986,7 +145742,6 @@ SubClassOf(efo:EFO_0007277 efo:EFO_0005932) # Class: efo:EFO_0007278 (fungal lung infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007278 "A lung disease that is a mycosis caused by fungal growth in the lungs.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007278 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007278 "DOID:11341") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007278 "MeSH:D008172") @@ -145996,7 +145751,6 @@ SubClassOf(efo:EFO_0007278 efo:EFO_0003818) # Class: efo:EFO_0007279 (gas gangrene) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007279 "A commensal bacterial infectious disease that results_in infection, located_in muscle tissue, has_material_basis_in Clostridium perfringens, which produce gas that becomes trapped in the infected tissue. Gas gangrene usually develops after injuries or surgery. The infection has_symptom large blisters, has_symptom pain in the infected area, has_symptom myonecrosis, has_symptom gas production, and has_symptom sepsis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007279 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007279 "DOID:9159") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007279 "MeSH:D005738") @@ -146047,7 +145801,6 @@ SubClassOf(efo:EFO_0007281 efo:EFO_0006510) # Class: efo:EFO_0007282 (genital herpes) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007282 "A herpes simplex that results_in infection located_in genital system, or located_in rectum, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which is transmitted_by sexual contact. The infection has_symptom sores, has_symptom fever, and has_symptom swollen glands.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007282 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007282 "DOID:8704") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007282 "ICD10:A60") @@ -146064,7 +145817,6 @@ SubClassOf(efo:EFO_0007282 efo:EFO_0000763) # Class: efo:EFO_0007283 (geographic tongue) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007283 "An atrophic glossitis that is characterized as an inflammatory condition of the mucous membrane of the tongue, usually on the dorsal surface.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007283 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007283 "DOID:1455") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007283 "MeSH:D005929") @@ -146116,7 +145868,6 @@ SubClassOf(efo:EFO_0007286 efo:EFO_0000771) # Class: efo:EFO_0007287 (glucosephosphate dehydrogenase deficiency) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007287 "A carbohydrate metabolic disorder that is characterised by abnormally low levels of glucose-6-phosphate dehydrogenase (abbreviated G6PD or G6PDH).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007287 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007287 "DOID:2862") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007287 "MeSH:D005955") @@ -146168,7 +145919,6 @@ SubClassOf(efo:EFO_0007290 efo:EFO_0005809) # Class: efo:EFO_0007291 (granuloma inguinale) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007291 "A primary bacterial infectious disease that results_in infection located_in skin or located_in mucosa of genital tract, has_material_basis_in Klebsiella granulomatis, transmitted by sexual contact or transmitted_by contact with the open sores. The infection has_symptom painless genital ulcers.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007291 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007291 "DOID:9113") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007291 "ICD10:A58") @@ -146206,7 +145956,6 @@ SubClassOf(efo:EFO_0007292 efo:EFO_0005140) # Class: efo:EFO_0007293 (haemonchiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007293 "A trichostrongyloidiasis that involves parasitic infection of the ruminant abomasum by nematodes of the genus Haemonchus resulting in anemia, dehydration, diarrhea and accumulation of fluid in the abdomen, gut wall, thoracic cavity and submandibular tissue.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007293 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007293 "DOID:3332") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007293 "MeSH:D006188") @@ -146293,7 +146042,6 @@ SubClassOf(efo:EFO_0007299 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007300 (Henipavirus infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007300 "A Paramyxoviridae infectious disease that results_in infection in domestic animals and humans, has_material_basis_in Henipavirus, which is transmitted_by direct contact with the urine, feces, and nasal secretions of an infected animal.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007300 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007300 "DOID:4393") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007300 "MeSH:D045464") @@ -146368,7 +146116,6 @@ SubClassOf(efo:EFO_0007306 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007307 (Herpes simplex virus gingivostomatitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007307 "A Simplexvirus infectious disease that results_in inflammation located_in mucosa of mouth, has_material_basis_in Human herpesvirus 1, and has_symptom cold sores, has_symptom bad breath, and has_symptom fever.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007307 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007307 "DOID:9059") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007307 "MeSH:D013283") @@ -146380,7 +146127,6 @@ SubClassOf(efo:EFO_0007307 efo:EFO_1002022) # Class: efo:EFO_0007308 (Herpes simplex virus keratitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007308 "A Simplexvirus infectious disease that results_in inflammation located_in cornea of the eye, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, and has_symptom photophobia, has_symptom blurred vision, has_symptom tearing, has_symptom pain, and has_symptom redness.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007308 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007308 "DOID:0080158") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007308 "MeSH:D016849") @@ -146450,7 +146196,6 @@ SubClassOf(efo:EFO_0007312 efo:EFO_0009528) # Class: efo:EFO_0007313 (HIV-associated nephropathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007313 "A renal infectious disease and is_a Human immunodeficiency virus infectious disease that results_in infection located_in kidney, has_material_basis_in has_material_basis_in Human immunodeficiency virus 1 or has_material_basis_in Human immunodeficiency virus 2. The infection has_symptom nephrotic-range proteinuria (>3.5 g/d), has_symptom azotemia, has_symptom hypoalbuminemia, and has_symptom hyperlipidemia.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007313 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007313 "DOID:1311") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007313 "MeSH:D016263") @@ -146643,7 +146388,6 @@ SubClassOf(efo:EFO_0007323 efo:EFO_0000783) # Class: efo:EFO_0007324 (inclusion conjunctivitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007324 "A commensal bacterial infectious disease that results_in inflammation, located_in conjunctiva of the eye, has_material_basis_in Chlamydia trachomatis, which is transmitted_by sexual contact. The infection has_symptom swollen conjunctiva and eyelids and has_symptom discharge of pus and mucus.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007324 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007324 "DOID:13800") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007324 "MeSH:D003235") @@ -146659,7 +146403,6 @@ SubClassOf(efo:EFO_0007324 efo:EFO_1000829) # Class: efo:EFO_0007325 (infectious ectromelia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007325 "A viral infectious disease that results_in infection located in skin of mice, has_material_basis_in Ectromelia virus. The infection has_symptom swelling of the feet, has_symptom gangrene, and has_symptom lesions on the skin.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007325 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007325 "DOID:3296") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007325 "MeSH:D004482") @@ -146690,7 +146433,6 @@ SubClassOf(efo:EFO_0007326 efo:EFO_0000763) # Class: efo:EFO_0007327 (infectious myxomatosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007327 "A viral infectious disease that results_in infection located_in eyes or located_in upper respiratory tract of domestic rabbits, has_material_basis_in Myxoma virus, which is transmitted_by mosquitos, transmitted_by biting flies or transmitted_by direct contact. The infection has_symptom conjunctivitis with a milky discharge from the inflamed eye and has_symptom breathing difficulties.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007327 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007327 "DOID:3297") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007327 "MeSH:D009234") @@ -146814,7 +146556,6 @@ SubClassOf(efo:EFO_0007331 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007332 (Japanese encephalitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007332 "A viral infectious disease that results_in infection located_in brain, has_material_basis_in Japanese encephalitis virus, which is transmitted_by Culex tritaeniorhynchus mosquito bite. The infection has_symptom headache, has_symptom high fever, has_symptom neck stiffness, has_symptom stupor, has_symptom disorientation, has_symptom coma, has_symptom tremors, has_symptom convulsions, and has_symptom spastic paralysis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007332 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007332 "DOID:10844") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007332 "MeSH:D004672") @@ -146905,7 +146646,6 @@ SubClassOf(efo:EFO_0007336 ObjectSomeValuesFrom(efo:EFO_0000784 obo:CL_0000453)) # Class: efo:EFO_0007337 (laryngeal tuberculosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007337 "A pulmonary tuberculosis causing granulomatous leisons in the larynx resulting from an inflammation caused by mycobacteria leading to hoarseness, dysphagia and odynophagia.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007337 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007337 "DOID:1583") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007337 "MeSH:D014387") @@ -146916,7 +146656,6 @@ SubClassOf(efo:EFO_0007337 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007338 (Lassa fever) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007338 "A viral infectious disease that results_in infection, has_material_basis_in Lassa virus, which is transmitted_by multimammate rat of the genus Mastomys. The infection has_symptom fever, has_symptom retrosternal pain, has_symptom sore throat, has_symptom back pain, has_symptom cough, has_symptom abdominal pain, has_symptom vomiting, has_symptom diarrhea, has_symptom conjunctivitis, has_symptom facial swelling, has_symptom proteinuria (protein in the urine), and has_symptom mucosal bleeding.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007338 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007338 "DOID:9537") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007338 "MeSH:D007835") @@ -146990,7 +146729,6 @@ SubClassOf(efo:EFO_0007342 efo:EFO_0000771) # Class: efo:EFO_0007343 (Legionnaires' disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007343 "A legionellosis that is characterized by severe form of infection producing pneumonia. Symptoms include fever, chills, and cough.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007343 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007343 "DOID:10457") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007343 "MeSH:D007877") @@ -147082,7 +146820,6 @@ SubClassOf(efo:EFO_0007348 efo:EFO_0005932) # Class: efo:EFO_0007349 (lumpy skin disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007349 "A viral infectious disease that results_in infection located_in skin and located_in mucous membrane of cattle, has_material_basis_in Lumpy skin disease virus, which results_in_formation_of nodules on the skin particularly on the head, neck, udder, genitalia, perineum and legs, has_symptom fever, and has_symptom lymphadenopathy.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007349 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007349 "DOID:3293") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007349 "MeSH:D008166") @@ -147093,7 +146830,6 @@ SubClassOf(efo:EFO_0007349 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007350 (lymph node tuberculosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007350 "An extrapulmonary tuberculosis that is located_in lymph node, and has_symptom lymphadenopathy, has_symptom fever, has_symptom weight loss, has_symptom fatigue, has_symptom night sweats and has_symptom cough.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007350 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007350 "DOID:4889") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007350 "MeSH:D014388") @@ -147123,7 +146859,6 @@ SubClassOf(efo:EFO_0007351 efo:EFO_0005803) # Class: efo:EFO_0007352 (lymphatic system disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007352 "a disease in lymphatic system") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007352 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007352 "ICD10:I89") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007352 "ICD10:J35") @@ -147254,7 +146989,6 @@ SubClassOf(efo:EFO_0007356 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007357 (mansonelliasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007357 "A filariasis that involves parasitic infection by the nematodes Mansonella ozzardi or Mansonella perstans, which reside in the skin or body cavities. The nematode is transmitted through the bite of midges and blackflies.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007357 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007357 "DOID:1081") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007357 "MeSH:D008368") @@ -147419,7 +147153,6 @@ SubClassOf(efo:EFO_0007364 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007365 (mesoblastic nephroma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007365 "A kidney cancer that is found in the kidney and is usually found before birth by ultrasound or within the first 3 months of life.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007365 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007365 "DOID:4772") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007365 "MeSH:D018201") @@ -147433,7 +147166,6 @@ SubClassOf(efo:EFO_0007365 efo:EFO_0003865) # Class: efo:EFO_0007366 (microsporidiosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007366 "An opportunistic mycosis that results_in systemic fungal infection in immunocompromised people, has_material_basis_in Microsporidia phylum members.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007366 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007366 "DOID:4271") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007366 "MeSH:D016881") @@ -147502,7 +147234,6 @@ SubClassOf(efo:EFO_0007370 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007371 (Miller Fisher syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007371 "A Guillain-Barre syndrome that manifests as a descending paralysis. It usually affects the eye muscles first and presents with the triad of ophthalmoplegia, ataxia, and areflexia.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007371 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007371 "DOID:12889") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007371 "MeSH:D019846") @@ -147759,7 +147490,6 @@ SubClassOf(efo:EFO_0007386 efo:EFO_0000771) # Class: efo:EFO_0007387 (Mycoplasma pneumoniae pneumonia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007387 "A mycoplasmal pneumonia that is caused by the bacterial species Mycoplasma pneumoniae. The symptoms include chest pain, chills, dry cough which is not bloody, excessive sweating, fever, headache and sore throat.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007387 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007387 "DOID:13276") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007387 "MeSH:D011019") @@ -147884,7 +147614,6 @@ SubClassOf(efo:EFO_0007393 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007394 (neuroschistosomiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007394 "A schistosomiasis that involves parasitic infection of the brain and spinal cord by Schistosoma haematobium, Schistosoma mansoni or Schistosoma japonicum causing acute or subacute myelopathy, focal central nervous system impairment, seizures and increased intracranial pressure.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007394 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007394 "DOID:13722") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007394 "MeSH:D020818") @@ -148008,7 +147737,6 @@ SubClassOf(efo:EFO_0007402 efo:EFO_0000701) # Class: efo:EFO_0007403 (ophthalmic herpes zoster) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007403 "A Varicellovirus infectious disease that results_in infection located_in eye, has_material_basis_in Human herpesvirus 3, which reactivates from the trigeminal ganglion after the primary infection.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007403 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007403 "DOID:8535") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007403 "MeSH:D006563") @@ -148054,7 +147782,6 @@ SubClassOf(efo:EFO_0007405 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007406 (oral candidiasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007406 "A candidiasis that involves fungal infection of the mucous membrane of the mouth by Candida species, which is characterized by thick white or cream-colored deposits on inflamed mucosal membranes.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007406 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007406 "DOID:14262") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007406 "MeSH:D002180") @@ -148084,7 +147811,6 @@ SubClassOf(efo:EFO_0007407 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007408 (orbital cancer) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007408 "A bone cancer that is located_in the area behind the eye and derives_from the orbit or secondarily derives_from an adjacent source (eyelid, paranasal sinus, or intracranial compartment). It results_in the eye pushing forward causing a bulging of the eye called proptosis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007408 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007408 "DOID:4143") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007408 "MeSH:D009918") @@ -148185,7 +147911,6 @@ SubClassOf(efo:EFO_0007414 efo:EFO_0001067) # Class: efo:EFO_0007415 (otitis media with effusion) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007415 "A non-suppurative otitis media which is a collection of fluid that occurs in the middle ear space as a result of the negative pressure produced by altered Eustachian tube function. This can occur from viral upper respiratory infection or bacterial infection, or it can precede and/or follow acute bacterial otitis media.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007415 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007415 "DOID:11179") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007415 "ICD10:H65") @@ -148404,7 +148129,6 @@ SubClassOf(efo:EFO_0007426 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00024 # Class: efo:EFO_0007427 (pericarditis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007427 "A pericardium disease that is characterized by an inflammation of the pericardium and has_symptom chest pain.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007427 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007427 "DOID:1787") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007427 "ICD10:I30") @@ -148430,7 +148154,6 @@ SubClassOf(efo:EFO_0007428 efo:EFO_0004280) # Class: efo:EFO_0007429 (peritonsillar abscess) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007429 "A tonsillitis which involves collection of pus beside the tonsil (peritonsillar space). It is caused by both aerobic and anaerobic bacteria. Commonly involved species include streptococci, staphylococci and hemophilus. Progressively worsening unilateral sore throat and pain during swallowing usually are the earliest symptoms. As the abscess develops, persistent pain in the peritonsillar area, fever, malaise, headache and a distortion of vowels informally known as \"\\hot potato voice\\\" may appear. Neck pain associated with tender, swollen lymph nodes, referred ear pain and halitosis are also common.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007429 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007429 "DOID:12765") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007429 "ICD10:J36") @@ -148555,7 +148278,6 @@ SubClassOf(efo:EFO_0007438 efo:EFO_0000763) # Class: efo:EFO_0007439 (pityriasis versicolor) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007439 "A superficial mycosis that is a chronic, superficial fungal infection of the skin caused by Malassezia furfur, which is characterized by well-demarcated white, pink, fawn, or brownish lesions, often coalescing, and covered with thin furfuraceous scales.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007439 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007439 "DOID:9060") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007439 "MeSH:D014010") @@ -148629,7 +148351,6 @@ SubClassOf(efo:EFO_0007444 efo:EFO_0001068) # Class: efo:EFO_0007445 (Plasmodium vivax malaria) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007445 "A malaria that is caused by the protozoan parasite Plasmodium vivax, which induces paroxysms at 48-hour intervals.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007445 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007445 "DOID:12978") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007445 "ICD10:B51") @@ -148644,7 +148365,6 @@ SubClassOf(efo:EFO_0007445 efo:EFO_0001068) # Class: efo:EFO_0007446 (pleural tuberculosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007446 "An extrapulmonary tuberculosis that results_in lymphocyte-predominant exudative pleural effusion, located_in pleura. This results from an allergic response to tuberculoprotein causing the permeabiltity of the pleural vasculature to alter leading to a sub-pleural caseous focus rupture into the pleural sac.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007446 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007446 "DOID:106") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007446 "MeSH:D014396") @@ -148664,7 +148384,6 @@ SubClassOf(efo:EFO_0007446 efo:EFO_0000771) # Class: efo:EFO_0007447 (Pneumocystis infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007447 "An opportunistic mycosis that has_material_basis_in Pneumocystis jirovecii, located_in lymph node, located_in spleen, located_in liver and located_in bone marrow, results_in_formation_of lesions.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007447 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007447 "DOID:11340") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007447 "MeSH:D016720") @@ -148716,7 +148435,6 @@ SubClassOf(efo:EFO_0007450 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007451 (Polyomavirus infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007451 "A Polyomaviridae infectious disease that results_in infection in animals and humans, has_material_basis_in Polyomavirus, which cause respiratory symptoms, cystitis or skin cancer.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007451 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007451 "DOID:647") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007451 "MeSH:D027601") @@ -148726,8 +148444,6 @@ SubClassOf(efo:EFO_0007451 efo:EFO_0000763) # Class: efo:EFO_0007452 (post-thrombotic syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007452 "A condition caused by one or more episodes of DEEP VEIN THROMBOSIS, usually the blood clots are lodged in the legs. Clinical features include EDEMA; PAIN; aching; heaviness; and MUSCLE CRAMP in the leg. When severe leg swelling leads to skin breakdown, it is called venous STASIS ULCER.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007452 "A venous insufficiency that is characterized by aching pain, heaviness, swelling, cramps, itching, or tingling in the affected limb and is a chronic complication of deep venous thrombosis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007452 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007452 "MeSH:D054070") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0007452 "Postthrombotic Syndrome") @@ -148873,7 +148589,6 @@ SubClassOf(efo:EFO_0007460 efo:EFO_0005856) # Class: efo:EFO_0007461 (recurrent pneumonia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007461 "recurrent pneumonia due to nontuberculous mycobacterium infections") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007461 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007461 "DOID:412") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007461 "MeSH:D009165") @@ -148885,7 +148600,6 @@ SubClassOf(efo:EFO_0007461 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007462 (REM sleep behavior disorder) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007462 "A sleep disorder that involves abnormal behavior including the acting out of violent or dramatic dreams during the sleep phase with rapid eye movement.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007462 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007462 "DOID:9091") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007462 "MeSH:D020187") @@ -148982,7 +148696,6 @@ SubClassOf(efo:EFO_0007466 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007467 (Reye syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007467 "A syndrome characterized by acute brain damage and liver function problems. It has been associated with aspirin consumption by children with viral illness, although it also occurs in the absence of aspirin use.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007467 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007467 "DOID:14525") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007467 "MeSH:D012202") @@ -149042,7 +148755,6 @@ SubClassOf(efo:EFO_0007471 efo:EFO_0001067) # Class: efo:EFO_0007472 (rickettsial pneumonia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007472 "A pneumonia that is caused by the bacterial genus Rickettsia. This infection results in pleural effusions and pulmonary edema.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007472 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007472 "DOID:13275") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007472 "MeSH:D011022") @@ -149163,7 +148875,6 @@ SubClassOf(efo:EFO_0007479 efo:EFO_0001067) # Class: efo:EFO_0007480 (scrub typhus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007480 "A typhus that has_material_basis_in Orientia tsutsugamushi, which is transmitted_by trombiculid mites (Leptotrombidium deliense). The infection has_symptom fever, has_symptom headache, has_symptom muscle pain, has_symptom cough, has_symptom maculopapular rash, has_symptom eschar, has_symptom splenomegaly and has_symptom lymphadenopathy.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007480 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007480 "DOID:13371") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007480 "MeSH:D012612") @@ -149215,7 +148926,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0007483 "true"^^xsd:boolean) # Class: efo:EFO_0007484 (sick building syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007484 "An extrinsic allergic alveolitis that is characterized by a set of symptoms such as headache, fatigue, eye irritation, and breathing difficulties that affect workers in modern airtight office buildings. The disease is caused by indoor pollutants (as formaldehyde fumes, particulate matter, or microorganisms), and the symptoms tend to disappear when affected individuals leave the building.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007484 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007484 "DOID:2710") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007484 "MeSH:D018877") @@ -149227,7 +148937,6 @@ SubClassOf(efo:EFO_0007484 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007485 (silicosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007485 "A pneumoconiosis that is an inflammation and scarring of the uper lobes of the lungs causing nodular lesions resulting from inhalation of silica, quartz or slate particles.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007485 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007485 "DOID:10325") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007485 "MeSH:D012829") @@ -149255,7 +148964,6 @@ SubClassOf(efo:EFO_0007486 efo:EFO_0000684) # Class: efo:EFO_0007487 (skeletal tuberculosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007487 "An extrapulmonary tuberculosis that results in formation of lesions located_in bone.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007487 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007487 "DOID:1639") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007487 "MeSH:D014394") @@ -149267,7 +148975,6 @@ SubClassOf(efo:EFO_0007487 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00014 # Class: efo:EFO_0007488 (sparganosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007488 "A parasitic helminthiasis infectious disease that involves parasitic infection by the genus Spirometra. A painful nodule develops after the plerocercoid larvae migrate to the brain causing cerebral sparganosis. Subcutaneous tissue, breast, orbit, urinary tract, pleural cavity, lungs, abdominal viscera and inner ear can be infected.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007488 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007488 "DOID:10080") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007488 "MeSH:D013031") @@ -149358,7 +149065,6 @@ SubClassOf(efo:EFO_0007492 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007493 (spondylolisthesis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007493 "A bone structure disease that has_material_basis_in displacement located_in set of vertebrae.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007493 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007493 "DOID:6682") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007493 "MeSH:D013168") @@ -149393,7 +149099,6 @@ SubClassOf(efo:EFO_0007495 efo:EFO_0000763) # Class: efo:EFO_0007496 (staphylococcal pneumonia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007496 "A staphylococcal infectious disease that is caused due to the infection by Gram-positive bacterium Staphylococcus aureus, which is an important cause of hospital-acquired infection that results in the formation of abscesses, empyema, pneumothorax, and cyst.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007496 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007496 "DOID:12608") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007496 "MeSH:D011023") @@ -149537,7 +149242,6 @@ SubClassOf(efo:EFO_0007505 efo:EFO_0000618) # Class: efo:EFO_0007506 (theileriasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007506 "A parasitic protozoa infectious disease that involves infection of humans and cattle caused by a genus of parasitic protozoa Theileria, which is transmitted by ixodid ticks.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007506 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007506 "DOID:3733") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007506 "MeSH:D013801") @@ -149707,7 +149411,6 @@ SubClassOf(efo:EFO_0007518 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007519 (trench fever) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007519 "A primary bacterial infectious disease that results_in systemic infection, has_material_basis_in Bartonella quintana, which is transmitted_by body lice (Pediculus humanus corporis). The infection has_symptom relapsing fever, has_symptom headache, has_symptom shin pain, and has_symptom soreness of the muscles of the legs and back.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007519 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007519 "DOID:11101") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007519 "MeSH:D014205") @@ -149737,7 +149440,6 @@ SubClassOf(efo:EFO_0007520 efo:EFO_0001067) # Class: efo:EFO_0007521 (Trichomonas vaginitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007521 "A Trichomonas vaginalis trichomoniasis that involves inflammation of the vagina caused by Trichomonas vaginalis. The symptoms include foul vaginal odor, burning during urination, vaginal discharge and irritation of the genital area.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007521 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007521 "DOID:11943") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007521 "MeSH:D014247") @@ -149818,7 +149520,6 @@ SubClassOf(efo:EFO_0007526 efo:EFO_0001067) # Class: efo:EFO_0007527 (tropical spastic paraparesis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007527 "A viral infectious disease that results_in inflammation located_in spinal cord, has_material_basis_in Human T-lymphotropic virus 1, which is transmitted_by sexual contact, and transmitted_by breast feeding. The infection has_symptom spastic weakness of both legs, has_symptom muscle stiffness, has_symptom sensory disturbance, and has_symptom spasms.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007527 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007527 "DOID:321") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007527 "MeSH:D015493") @@ -149888,7 +149589,6 @@ SubClassOf(efo:EFO_0007530 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0007531 (urogenital tuberculosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007531 "An extrapulmonary tuberculosis that is located_in urogenital system.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007531 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007531 "DOID:2149") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007531 "MeSH:D014401") @@ -150122,7 +149822,6 @@ SubClassOf(efo:EFO_0007543 efo:EFO_0009549) # Class: efo:EFO_0007544 (Waterhouse-Friderichsen syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007544 "An adrenal gland disease that is characterized by failure of the adrenal gland due to bleeding into the gland.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007544 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007544 "DOID:9931") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007544 "MeSH:D014884") @@ -150639,10 +150338,9 @@ SubClassOf(efo:EFO_0007593 efo:EFO_0001444) SubClassOf(efo:EFO_0007593 ObjectSomeValuesFrom(obo:IAO_0000136 obo:CHEBI_16991)) SubClassOf(efo:EFO_0007593 ObjectSomeValuesFrom(obo:IAO_0000136 efo:EFO_0004420)) -# Class: efo:EFO_0007598 (HAP1) +# Class: efo:EFO_0007598 (HAP-1) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007598 "HAP1 is a near-haploid human cell line that was derived from the male chronic myelogenous leukemia (CML) cell line KBM-7. HAP1 cells are adherent with fibroblast-like morphology.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007598 "Human chronic myelogenous leukemia cell line") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007598 "Kalpana Panneerselvam") AnnotationAssertion(dc:creator efo:EFO_0007598 "Zoe May Pendlington") AnnotationAssertion(dc:date efo:EFO_0007598 "2024-02-14T16:54:54Z"^^xsd:dateTime) @@ -150651,7 +150349,6 @@ AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007598 "PMID:3466682") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007598 "RRID:CVCL_Y019") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0007598 "HAP1") AnnotationAssertion(rdfs:label efo:EFO_0007598 "HAP-1") -AnnotationAssertion(rdfs:label efo:EFO_0007598 "HAP1"@en) SubClassOf(efo:EFO_0007598 obo:CL_0000010) SubClassOf(efo:EFO_0007598 efo:EFO_0005294) SubClassOf(efo:EFO_0007598 efo:EFO_0005903) @@ -153540,7 +153237,6 @@ SubClassOf(efo:EFO_0007939 efo:EFO_0001444) # Class: efo:EFO_0007940 (chronic venous insufficiency) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0007940 "morphological and functional abnormalities of the venous system of long duration manifested either by symptoms and/or signs indicating the need for investigation and/or care") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0007940 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007940 "MedDRA:10066682") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0007940 "PMID:28374850") @@ -158100,7 +157796,6 @@ SubClassOf(efo:EFO_0008505 efo:EFO_0000182) # Class: efo:EFO_0008506 (hyperparathyroidism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008506 "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It may be primary or secondary.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0008506 "Laura Huerta") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008506 "DOID:13543") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008506 "ICD10:E21") @@ -158470,7 +158165,6 @@ SubClassOf(efo:EFO_0008524 efo:EFO_0000616) # Class: efo:EFO_0008525 (spinal muscular atrophy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008525 "Spinal muscular atrophy is a disorder of spinal motor neurons characterized clinically by the development of muscle weakness and atrophy.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0008525 "Laura Huerta") AnnotationAssertion(efo:definition_citation efo:EFO_0008525 "https://doi.org/10.1093/brain/awr229") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008525 "DOID:12377") @@ -158919,7 +158613,6 @@ SubClassOf(efo:EFO_0008558 efo:EFO_0005681) # Class: efo:EFO_0008559 (American trypanosomiasis) AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008559 "A parasitic infection caused by Trypanosoma cruzi. It is transmitted by insect bites. It is characterized by an acute and chronic phase; in the acute phase patients may have fever, malaise, and swelling at the site of the insect bite. In the chronic phase patients develop hepatosplenomegaly, lymphadenopathy, cardiomyopathy and arrhythmias. [ NCI ]") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008559 "American trypanosomiasis, commonly known as Chagas disease (ChD), is a tropical disease mainly found in latin America and transmitted by triatomine insects (mostly Triatoma infestans and Rhodnius prolixus and Panstrongylus megistus) harboring the hemoflagellate protozoan parasite Trypanosoma cruzi. The disease is characterized by an acute phase which is either asymptomatic or manifest with fever, inflammation at the inoculation site (inoculation chancre or chagoma), unilateral palpebral edema called the Romaña sign (when the triatomine bite occurs near the eye), enlarged lymph nodes, and splenomegaly. The chronic phase is lifelong and development of chagasic cardiomyopathy (30%; complex arrhythmias, heart failure, and thromboembolic events), digestive (10%; megaoesophagus and megacolon), neurological (10%; stroke, peripheral neuropathy and autonomic dysfunction), or mixed alterations (10%) may be observed. These can all lead to high morbidity and mortality rates. [ ORDO ]") AnnotationAssertion(efo:definition_citation efo:EFO_0008559 "KEGG:05142") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008559 "DOID:12140") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008559 "ICD10:B57.0") @@ -159053,7 +158746,6 @@ SubClassOf(efo:EFO_0008570 efo:EFO_0005878) # Class: efo:EFO_0008571 (viral conjunctivitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008571 "Inflammation, often mild, of the conjunctiva caused by a variety of viral agents. Conjunctival involvement may be part of a systemic infection [MeSH]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0008571 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008571 "ICD10:B30") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008571 "MeSH:D003236") @@ -159162,7 +158854,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_0008580 "true"^^xsd:boolean) # Class: efo:EFO_0008581 (salivary gland disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008581 "A non-neoplastic or neoplastic (benign or malignant) disorder involving a salivary gland. [ NCI ]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0008581 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008581 "DOID:10854") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008581 "ICD10:K11") @@ -159402,7 +159093,6 @@ SubClassOf(efo:EFO_0008597 efo:EFO_0008598) # Class: efo:EFO_0008598 (autoimmune bullous skin disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008598 "Subepidermal autoimmune bullous diseases of the skin and mucosae comprise a large group of chronic diseases, including bullous pemphigoid, pemphigoid gestationis, mucous membrane pemphigoid, linear IgA bullous dermatosis, epidermolysis bullosa acquisita, and anti-p200 pemphigoid. These diseases are characterized by an antibody response toward structural components of the basement membrane zone, resulting in subepidermal blistering. [ PMID:29159697 ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008598 "DOID:8502") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0008598 "autoimmune diseases of the skin and mucous membrane") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0008598 "subepidermal autoimmune blistering disease") @@ -159428,7 +159118,6 @@ SubClassOf(efo:EFO_0008601 efo:EFO_1002003) # Class: efo:EFO_0008602 (paraneoplastic pemphigus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008602 "Paraneoplastic pemphigus is an autoimmune disorder stemming from an underlying tumor.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008602 "MONDO:0018974") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008602 "MedDRA:10057056") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008602 "ORDO:Orphanet_63455") @@ -159552,9 +159241,8 @@ AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0008614 "Subclinical iodine AnnotationAssertion(rdfs:label efo:EFO_0008614 "Iodine Deficiency Hypothyroidism") SubClassOf(efo:EFO_0008614 efo:EFO_0004705) -# Class: efo:EFO_0008615 (Cystic Kidney Disease) +# Class: efo:EFO_0008615 (cystic kidney disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008615 "A congenital or acquired kidney disorder characterized by the presence of renal cysts. [ NCI ]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0008615 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008615 "DOID:2975") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008615 "ICD10:Q61") @@ -159566,7 +159254,7 @@ AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008615 "UMLS:C1691228") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0008615 "Cystic Kidney Diseases") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0008615 "Cystic Renal Diseases") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0008615 "Kidney, Cystic") -AnnotationAssertion(rdfs:label efo:EFO_0008615 "Cystic Kidney Disease") +AnnotationAssertion(rdfs:label efo:EFO_0008615 "cystic kidney disease") SubClassOf(efo:EFO_0008615 efo:EFO_0003086) # Class: efo:EFO_0008616 (Complex Cyst of Kidney) @@ -163071,7 +162759,6 @@ SubClassOf(efo:EFO_0008995 ObjectSomeValuesFrom(obo:BFO_0000055 ObjectIntersecti # Class: efo:EFO_0008997 (synovitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0008997 "Inflammation of the SYNOVIAL MEMBRANE [ MeSH ]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0008997 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008997 "DOID:2703") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0008997 "HP:0100769") @@ -163181,7 +162868,6 @@ SubClassOf(efo:EFO_0009002 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0009003 (ovarian dysfunction) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009003 "The inability of the ovaries to function. [ NCI ]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0009003 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009003 "DOID:1414") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009003 "ICD10:E28") @@ -163740,7 +163426,6 @@ SubClassOf(efo:EFO_0009052 efo:EFO_0003853) # Class: efo:EFO_0009053 (Primary progressive aphasia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009053 "Primary progressive aphasia (PPA) is a neurodegenerative disorder, characterized by a primary dissolution of language, with relative sparing of other mental faculties for at least the first 2 years of illness. PPA is recognized as the language variant in the frontotemporal dementia (FTD; see this term) spectrum of disorders. PPA can be classified into 3 subtypes based on specific speech and language features: semantic dementia (SD), progressive non-fluent aphasia (PNFA) and logopenic progressive aphasia (lv-PPA) (see these terms).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0009053 "Hannah McLaren") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009053 "MeSH:D018888") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009053 "MedDRA:10081268") @@ -165170,7 +164855,6 @@ SubClassOf(efo:EFO_0009189 efo:EFO_1000627) # Class: efo:EFO_0009190 (Thyrotoxicosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009190 "A hypermetabolic syndrome caused by the elevation of thyroid hormone levels in the serum. Signs and symptoms include tachycardia, palpitations, tremor, weight loss, warm weather intolerance, and moist skin. Causes include Graves disease, toxic nodular goiter, toxic thyroid nodule, and lymphocytic thyroiditis. [ NCI ]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0009190 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009190 "DOID:7997") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009190 "MONDO:0010138") @@ -166056,7 +165740,6 @@ SubClassOf(efo:EFO_0009266 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0009267 (delirium) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009267 "A state of sudden and severe confusion.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009267 "MedDRA:10012218") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009267 "MedDRA:10012226") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009267 "NCIt:C2981") @@ -166517,7 +166200,6 @@ SubClassOf(efo:EFO_0009313 efo:EFO_0008598) # Class: efo:EFO_0009314 (blood coagulation disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009314 "A condition in which there is a deviation from or interruption of the normal coagulation properties of the blood. [ NCIt:C2902 ]") AnnotationAssertion(obo:IAO_0000117 efo:EFO_0009314 "Zoe May Pendlington") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009314 "DOID:1247") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009314 "ICD10:D68") @@ -167212,7 +166894,6 @@ SubClassOf(efo:EFO_0009384 ) # Class: efo:EFO_0009385 (familial tumoral calcinosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009385 "Familial tumoral calcinosis (FTC) refers to a rare autosomal recessive disorder characterized by the occurrence of cutaneous and subcutaneous calcified masses, usually adjacent to large joints, such as hips, shoulders and elbows. FTC can occur in the setting of hyperphosphatemia or normophosphatemia, depending on the type of gene mutation involved.") AnnotationAssertion(rdfs:label efo:EFO_0009385 "familial tumoral calcinosis") SubClassOf(efo:EFO_0009385 efo:EFO_0009385) SubClassOf(efo:EFO_0009385 ) @@ -167553,7 +167234,6 @@ SubClassOf(efo:EFO_0009424 efo:EFO_1001245) # Class: efo:EFO_0009425 (Yersinia pestis infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009425 "Infections with bacteria of the species Yersinia pestis.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009425 "MONDO:0019095") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009425 "Yersinia pestis infection") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009425 "plague") @@ -167639,7 +167319,6 @@ SubClassOf(efo:EFO_0009432 efo:EFO_1001986) # Class: efo:EFO_0009433 (lower respiratory tract disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009433 "A disease that affects the lower respiratory tract.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009433 "ICD10:J22") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009433 "MONDO:0000270") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009433 "lower respiratory tract disorder") @@ -167818,7 +167497,6 @@ SubClassOf(efo:EFO_0009448 efo:EFO_0006890) # Class: efo:EFO_0009449 (keratitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009449 "Inflammation of the cornea. [ NCIt:P378 ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009449 "ICD10:H16") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009449 "MONDO:0003085") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009449 "MedDRA:10023332") @@ -167841,7 +167519,6 @@ SubClassOf(efo:EFO_0009450 efo:EFO_1000203) # Class: efo:EFO_0009451 (hypoparathyroidism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009451 "Hypoparathyroidism is an endocrine disorder in which the parathyroid glands in the neck do not produce enough parathyroid hormone (PTH). Common signs and symptoms include abdominal pain, brittle nails, cataracts, dry hair and skin, muscle cramps, tetany, pain in the face, legs, and feet, seizures, tingling sensation, and weakened tooth enamel (in children). It may be caused by injury to the parathyroid glands (e.g. during surgery). Other causes include low blood magnesium levels, a side effect of radioactive iodine treatment for hyperthyroidism, metabolic alkalosis, DiGeorge syndrome, and type I polyglandular autoimmune syndrome. The goal of treatment is to restore the calcium and mineral balance in the body. [ https://rarediseases.info.nih.gov/diseases/6733/hypoparathyroidism ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009451 "ICD10:E20") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009451 "MONDO:0001220") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009451 "MedDRA:10021041") @@ -167895,7 +167572,6 @@ SubClassOf(efo:EFO_0009454 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0009455 (lacrimal apparatus disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009455 "A non-neoplastic or neoplastic disorder that affects the lacrimal apparatus. [ NCIt:C26809 ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009455 "ICD10:H04") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009455 "MONDO:0001854") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009455 "lacrimal apparatus disorder") @@ -168119,7 +167795,6 @@ SubClassOf(efo:EFO_0009481 efo:EFO_0000524) # Class: efo:EFO_0009482 (drug allergy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009482 "Immunologically mediated adverse reactions to medicinal substances used legally or illegally. [ MESH ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009482 "MONDO:0000775") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009482 "MeSH:D004342") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009482 "MedDRA:10013661") @@ -168809,7 +168484,6 @@ SubClassOf(efo:EFO_0009537 efo:EFO_0009477) # Class: efo:EFO_0009538 (chronic inflammatory demyelinating polyneuropathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009538 "Chronic inflammatory demyelinating polyneuropathy (CIDP) is a chronic monophasic, progressive or relapsing symmetric sensorimotor disorder characterized by progressive muscular weakness with impaired sensation, absent or diminished tendon reflexes and elevated cerebrospinal fluid (CSF) proteins.") AnnotationAssertion(efo:definition_citation efo:EFO_0009538 "GARD:0006102") AnnotationAssertion(efo:definition_citation efo:EFO_0009538 "SCTID:716723000") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009538 "ICD10:G61") @@ -170236,7 +169910,6 @@ SubClassOf(efo:EFO_0009656 efo:EFO_0009655) # Class: efo:EFO_0009657 (acute pharyngitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009657 "An acute and painful inflammatory process that affects the pharynx. It is usually caused by viruses and less often bacteria. Signs and symptoms include discomfort on swallowing, low-grade fever, headache, and earache. [database_cross_reference: NCIt:C34355]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009657 "ICD10:J02") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009657 "MONDO:0020600") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009657 "MedDRA:1000MedDRA:1002") @@ -170412,7 +170085,6 @@ SubClassOf(efo:EFO_0009671 efo:EFO_0005772) # Class: efo:EFO_0009672 (inner ear disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009672 "A non-neoplastic or neoplastic disorder affecting the inner ear. Causes are inner ear infections, head injuries, and neoplasms (e.g., acoustic schwannoma). Symptoms include dizziness, imbalance, nausea, and vision problems. [database_cross_reference: NCIt:C27166]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009672 "ICD10:H83") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009672 "MONDO:0002467") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009672 "NCIt:C27166") @@ -170431,7 +170103,6 @@ SubClassOf(efo:EFO_0009673 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_0009674 (lens disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009674 "A disease involving the lens of camera-type eye. [database_cross_reference: MONDO:DesignPattern]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009674 "ICD10:H27") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009674 "MONDO:0001176") AnnotationAssertion(rdfs:label efo:EFO_0009674 "lens disease") @@ -170494,7 +170165,6 @@ SubClassOf(efo:EFO_0009678 efo:EFO_1001990) # Class: efo:EFO_0009679 (paraplegia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009679 "Complete paralysis of the lower half of the body including both legs, often caused by damage to the spinal cord. [database_cross_reference: NCIt:P378]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009679 "ICD10:G82") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009679 "MONDO:0003757") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009679 "MedDRA:10033892") @@ -170601,7 +170271,6 @@ SubClassOf(efo:EFO_0009688 efo:EFO_1001047) # Class: efo:EFO_0009689 (urethral disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009689 "A disease involving the urethra. [database_cross_reference: MONDO:DesignPattern]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009689 "ICD10:N36") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009689 "MONDO:0004184") AnnotationAssertion(rdfs:label efo:EFO_0009689 "urethral disease") @@ -170621,7 +170290,6 @@ SubClassOf(efo:EFO_0009690 efo:EFO_0000408) # Class: efo:EFO_0009691 (vestibular disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009691 "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls. [database_cross_reference: MeSH:D015837]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009691 "ICD10:H81") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009691 "MONDO:0002643") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009691 "MeSH:D015837") @@ -170630,7 +170298,6 @@ SubClassOf(efo:EFO_0009691 efo:EFO_0009672) # Class: efo:EFO_0009692 (voice disorders) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009692 "A pathologic process in the larynx that affects the production of speech. Causes include vocal cord paresis, vocal cord nodule, vocal cord polyp, and laryngitis. [database_cross_reference: NCIt:C3441]") AnnotationAssertion(efo:definition_citation efo:EFO_0009692 "http://purl.obolibrary.org/obo/SYMP_0000559") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009692 "ICD10:R49") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009692 "MONDO:0043862") @@ -170965,7 +170632,6 @@ SubClassOf(efo:EFO_0009730 efo:EFO_0002609) # Class: efo:EFO_0009731 (polyarticular juvenile idiopathic arthritis, rheumatoid factor positive) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009731 "A category of juvenile idiopathic arthritis defined by the presence of arthritis affecting five or more separate joints during the first six months of disease, with positive serologic testing for rheumatoid factor. [ NCIt:C119034 ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009731 "MONDO:0019435") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0009731 "rheumatoid factor-positive polyarticular juvenile idiopathic arthritis") AnnotationAssertion(rdfs:label efo:EFO_0009731 "polyarticular juvenile idiopathic arthritis, rheumatoid factor positive") @@ -170989,7 +170655,6 @@ SubClassOf(efo:EFO_0009733 efo:EFO_0002609) # Class: efo:EFO_0009734 (unspecified juvenile idiopathic arthritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009734 "Unspecified juvenile idiopathic arthritis is a rare, pediatric, rheumatologic disease, a subtype of juvenile idiopathic arthritis (JIA) characterized by arthritis of an unknown cause that persists for at least 6 weeks, and does not fulfill the criteria for any of the other JIA subtypes, or fulfills criteria for more than one of the other subtypes. [ Orphanet:91140 ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009734 "MONDO:0019607") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009734 "PMID:14760812") AnnotationAssertion(rdfs:label efo:EFO_0009734 "unspecified juvenile idiopathic arthritis") @@ -172456,7 +172121,6 @@ SubClassOf(efo:EFO_0009902 efo:EFO_0003889) # Class: efo:EFO_0009903 (inflammatory disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_0009903 "A disease involving a pathogenic inflammatory response in an anatomical structure. [ MONDO:patterns/inflammatory_disease_by_site ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_0009903 "MONDO:0021166") AnnotationAssertion(rdfs:label efo:EFO_0009903 "inflammatory disease") EquivalentClasses(efo:EFO_0009903 ObjectIntersectionOf(efo:EFO_0000408 ObjectSomeValuesFrom(obo:RO_0004027 ObjectUnionOf(obo:UBERON_0000061 ObjectSomeValuesFrom(obo:BFO_0000050 obo:UBERON_0000061))))) @@ -240796,7 +240460,6 @@ SubClassOf(efo:EFO_1000012 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000013 (Prinzmetal's angina) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000013 "a syndrome typically consisting of angina (cardiac chest pain) at rest that occurs in cycles. It is caused by vasospasm, a narrowing of the coronary arteries caused by contraction of the smooth muscle tissue in the vessel walls rather than directly by atherosclerosis (buildup of fatty plaque and hardening of the arteries).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000013 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000013 "ICD9:413.1") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000013 "MedDRA:10011088") @@ -240881,7 +240544,6 @@ SubClassOf(efo:EFO_1000017 efo:EFO_0000508) # Class: efo:EFO_1000018 (bladder disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000018 "A disorder affecting the urinary bladder") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000018 "Laura Huerta") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000018 "DOID:365") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000018 "ICD10:N32") @@ -241238,7 +240900,6 @@ SubClassOf(efo:EFO_1000035 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000036 (lactic acidosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000036 "Metabolic disease characterized by the accumulation of lactate in the body. It is caused by tissue hypoxia") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000036 "Laura Huerta") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000036 "DOID:3650") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000036 "MeSH:D000140") @@ -241550,8 +241211,6 @@ SubClassOf(efo:EFO_1000051 efo:EFO_0000616) # Class: efo:EFO_1000052 (sex cord-stromal tumor) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "MONDO:patterns/neoplasm") obo:IAO_0000115 efo:EFO_1000052 "A neoplasm involving a sex cord.") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000052 "A reproductive organ cancer that is located_in the sex cord-derived tissues of the ovary and testis.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000052 "Sirarat Sarntivijai") AnnotationAssertion(terms:conformsTo efo:EFO_1000052 ) AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000052 "DOID:192") @@ -242361,7 +242020,6 @@ SubClassOf(efo:EFO_1000086 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000087 (Angiomyxoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378") obo:IAO_0000115 efo:EFO_1000087 "A benign soft tissue neoplasm characterized by the presence of neoplastic spindle and stellate cells in a myxoid stroma.") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_1000087 "EFO:1000087") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:relatedTo") Annotation(oboInOwl:source "i2s") oboInOwl:hasDbXref efo:EFO_1000087 "ICD9:215.9") AnnotationAssertion(Annotation(oboInOwl:source "NCIT:C3254") oboInOwl:hasDbXref efo:EFO_1000087 "ICDO:8841/0") @@ -244533,7 +244191,6 @@ SubClassOf(efo:EFO_1000202 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000203 (conjunctival disorder) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000203 "Any disorder of the conjunctiva. ") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000203 "ICD10:H11") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000203 "ICD10:H13") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000203 "MedDRA:10061446") @@ -247858,7 +247515,6 @@ SubClassOf(efo:EFO_1000358 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000359 (Malignant Pancreatic Neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000359 "A primary or metastatic malignant tumor involving the pancreas. Representative examples include carcinoma and lymphoma. -- 2003") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000359 "NCIt:C9005") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000359 "OMIM:618680") AnnotationAssertion(rdfs:label efo:EFO_1000359 "Malignant Pancreatic Neoplasm") @@ -248289,7 +247945,6 @@ SubClassOf(efo:EFO_1000383 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000384 (Mixed Tumor of the Salivary Gland) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000384 "A benign or malignant neoplasm that arises from the salivary glands. It is characterized by the presence of epithelial and mesenchymal elements. This category includes pleomorphic adenoma, carcinoma ex pleomorphic adenoma, and carcinosarcoma.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000384 "NCIt:C35691") AnnotationAssertion(rdfs:label efo:EFO_1000384 "Mixed Tumor of the Salivary Gland") SubClassOf(efo:EFO_1000384 efo:EFO_0003826) @@ -249613,7 +249268,6 @@ SubClassOf(efo:EFO_1000456 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000457 (Parathyroid Hyperplasia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000457 "Parathyroid hyperplasia is the enlargement of all four parathyroid glands. The parathyroid glands are glands in the neck that produce parathyroid hormone (PTH). (https://www.nlm.nih.gov/medlineplus/ency/article/001189.htm)") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000457 "MedDRA:10079611") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000457 "NCIt:C3989") AnnotationAssertion(rdfs:label efo:EFO_1000457 "Parathyroid Hyperplasia") @@ -253428,7 +253082,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_1000626 "true"^^xsd:boolean) # Class: efo:EFO_1000627 (thyroid disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000627 "A thyroid disease is a medical condition impairing the function of the thyroid. Different thyroid diseases include Hashimoto's thyroiditis, hyperthyroidism and hypothyroidism. These diseases have a large range of symptoms and affect all ages.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000627 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000627 "ICD10:E06") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000627 "ICD10:E07") @@ -253484,7 +253137,6 @@ SubClassOf(efo:EFO_1000631 efo:EFO_0000618) # Class: efo:EFO_1000632 (cerebral palsy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000632 "Cerebral palsy describes a group of permanent disorders of the development of movement and posture, causing activity limitation, that are attributed to nonprogressive disturbances that occurred in the developing fetal or infant brain. The motor disorders of cerebral palsy are often accompanied by disturbances of sensation, perception, cognition, communication, and behaviour, by epilepsy, and by secondary musculoskeletal problems.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000632 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000632 "HP:0100021") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000632 "MedDRA:10008129") @@ -253507,7 +253159,6 @@ SubClassOf(efo:EFO_1000633 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00011 # Class: efo:EFO_1000634 (hamartoma) -AnnotationAssertion(Annotation(oboInOwl:hasDbXref "NCIT:P378") obo:IAO_0000115 efo:EFO_1000634 "A benign and excessive tumor-like growth of mature cells and normal tissues which grow in a disorganized pattern.") AnnotationAssertion(obo:IAO_0000589 efo:EFO_1000634 "hamartoma (disease)") AnnotationAssertion(Annotation(oboInOwl:source "MONDO:equivalentTo") oboInOwl:hasDbXref efo:EFO_1000634 "EFO:1000634") AnnotationAssertion(Annotation(oboInOwl:source "EFO:1000634") Annotation(oboInOwl:source "MONDO:otherHierarchy") oboInOwl:hasDbXref efo:EFO_1000634 "HP:0010566") @@ -253626,7 +253277,6 @@ SubClassOf(efo:EFO_1000639 efo:EFO_0000589) # Class: efo:EFO_1000640 (basal ganglia cerebrovascular disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000640 "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (BASAL GANGLIA)") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000640 "DOID:10991") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000640 "MeSH:D020144") AnnotationAssertion(rdfs:label efo:EFO_1000640 "basal ganglia cerebrovascular disease") @@ -253635,7 +253285,6 @@ SubClassOf(efo:EFO_1000640 efo:EFO_0009533) # Class: efo:EFO_1000641 (congenital nonspherocytic hemolytic anemia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000641 "Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. In some cases, pyruvate kinase deficiency has been demonstrated; in other cases, glucose-6-phosphate dehydrogenase deficiency has been demonstrated.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000641 "DOID:2861") AnnotationAssertion(rdfs:label efo:EFO_1000641 "congenital nonspherocytic hemolytic anemia") SubClassOf(efo:EFO_1000641 ) @@ -253680,7 +253329,6 @@ SubClassOf(efo:EFO_1000644 efo:EFO_0010238) # Class: efo:EFO_1000645 (orthostatic intolerance) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000645 "A condition characterized by development of symptoms while standing. It is an autonomic nervous system disorder and the symptoms are relieved once the person sits back down. Symptoms include heart .") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000645 "MedDRA:10063927") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000645 "OMIM:604715") AnnotationAssertion(rdfs:label efo:EFO_1000645 "orthostatic intolerance") @@ -253711,7 +253359,6 @@ SubClassOf(efo:EFO_1000646 efo:EFO_0006858) # Class: efo:EFO_1000647 (renal tubular transport disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000647 "Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000647 "DOID:447") AnnotationAssertion(rdfs:label efo:EFO_1000647 "renal tubular transport disease") SubClassOf(efo:EFO_1000647 efo:EFO_0003086) @@ -253946,7 +253593,6 @@ SubClassOf(efo:EFO_1000667 efo:EFO_1000728) # Class: efo:EFO_1000668 (allergic contact dermatitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000668 "A contact dermititis that is an allergic skin reaction to foreign chemical or substances leading to red, itchy, weepy reaction where the skin has come into contact with a substance that the immune system recognizes as foreign.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000668 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000668 "DOID:3042") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000668 "ICD10:L23") @@ -254040,7 +253686,6 @@ SubClassOf(efo:EFO_1000675 efo:EFO_1000720) # Class: efo:EFO_1000676 (cholesteatoma of attic) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000676 "a cholesteatoma in the attic") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000676 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000676 "DOID:10963") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000676 "MedDRA:10008643") @@ -254109,7 +253754,6 @@ SubClassOf(efo:EFO_1000680 efo:EFO_1000774) # Class: efo:EFO_1000681 (congenital generalized lipodystrophy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000681 "a rare condition characterized by an almost total lack of fatty (adipose) tissue in the body and a very muscular appearance. Adipose tissue is found in many parts of the body, including beneath the skin and surrounding the internal organs. It stores fat for energy and also provides cushioning. Congenital generalized lipodystrophy is part of a group of related disorders known as lipodystrophies, which are all characterized by a loss of adipose tissue. A shortage of adipose tissue leads to the storage of fat elsewhere in the body, such as in the liver and muscles, which causes serious health problems.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000681 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000681 "http://ghr.nlm.nih.gov/condition/congenital-generalized-lipodystrophy") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000681 "DOID:0050585") @@ -254185,7 +253829,6 @@ SubClassOf(efo:EFO_1000687 efo:EFO_1000728) # Class: efo:EFO_1000688 (dyshidrosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000688 "a skin condition that is characterized by small blisters on the hands or feet. It is an acute, chronic, or recurrent dermatosis of the fingers, palms, and soles, characterized by a sudden onset of many deep-seated pruritic, clear vesicles; later, scaling, fissures and lichenification occur. Recurrence is common and for many can be chronic. Incidence/prevalence is said to be 1/5,000 in the United States. However, many cases of eczema are diagnosed as garden-variety atopic eczema without further investigation, so it is possible that this figure is misleading.This condition is not contagious to others, but the compromised integument can increase susceptibility to infection, and the accompanying itching can be a source of psychological distress") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000688 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000688 "DOID:9230") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000688 "MedDRA:10013912") @@ -254214,7 +253857,6 @@ SubClassOf(efo:EFO_1000689 efo:EFO_1000714) # Class: efo:EFO_1000690 (epidermolysis bullosa) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000690 "a group of inherited connective tissue diseases that cause blisters in the skin and mucosal membranes, with an incidence of 20 per million newborns in the United States.It is a result of a defect in anchoring between the epidermis and dermis, resulting in friction and skin fragility. Its severity ranges from mild to lethal.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000690 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000690 "DOID:2730") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000690 "MedDRA:10014989") @@ -254248,7 +253890,6 @@ SubClassOf(efo:EFO_1000692 efo:EFO_1000690) # Class: efo:EFO_1000693 (erythema infectiosum) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000693 "usually a benign childhood condition characterized by a classic slapped-cheek appearance (see the image below) and lacy exanthem.It results from infection with human parvovirus (PV) B19, an erythrovirus.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000693 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000693 "http://emedicine.medscape.com/article/1132078-overview") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000693 "DOID:8743") @@ -254322,7 +253963,6 @@ SubClassOf(efo:EFO_1000699 efo:EFO_0000662) # Class: efo:EFO_1000700 (fibroepithelial polyp of urethra) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000700 "Benign urothelial polyp with both epithelial and stromal components. Usually a solitary lesion in bladder and urethra in adults, upper tract in children. Generally scant inflammation and no associated cystitis. Cystoscopic appearance is suggestive of papillary neoplasm rather than cystitis") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000700 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000700 "http://surgpathcriteria.stanford.edu/bladder/fibroepithelial-polyp/printable.html") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000700 "DOID:8108") @@ -254355,7 +253995,6 @@ SubClassOf(efo:EFO_1000702 efo:EFO_0000701) # Class: efo:EFO_1000703 (fox fordyce disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000703 "a chronic blockage of the sweat gland ducts with a secondary, non-bacterial inflammatory response to the secretions and cellular debris in the cysts. Hidradenitisis very similar, but tends to have a secondary bacterial infection so that pus-draining sinuses are formed.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000703 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000703 "DOID:1381") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000703 "Wikipedia:Fox-Fordyce_disease") @@ -254591,7 +254230,6 @@ SubClassOf(efo:EFO_1000721 efo:EFO_1000739) # Class: efo:EFO_1000722 (Kimura disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000722 "a benign rare chronic inflammatory disorder. Its primary symptoms are subdermal lesions in the head or neck or painless unilateral inflammation of cervical lymph nodes.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000722 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000722 "DOID:7365") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000722 "Wikipedia:Kimura's_disease") @@ -254740,7 +254378,6 @@ SubClassOf(efo:EFO_1000735 efo:EFO_1000734) # Class: efo:EFO_1000736 (mongolian spot) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000736 "congenital dermal melanocytosis, and dermal melanocytosis is a benign, flat, congenital birthmark with wavy borders and irregular shape.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000736 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000736 "DOID:4702") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000736 "MedDRA:10027815") @@ -254859,7 +254496,6 @@ SubClassOf(efo:EFO_1000745 efo:EFO_1000720) # Class: efo:EFO_1000746 (panniculitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000746 "a group of diseases whose hallmark is inflammation of subcutaneous adipose tissue (the fatty layer under the skin - panniculus adiposus). Symptoms include tender skin nodules, and systemic signs such as weight loss and fatigue.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000746 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000746 "DOID:1526") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000746 "MedDRA:10033675") @@ -254892,8 +254528,6 @@ SubClassOf(efo:EFO_1000748 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000749 (pemphigus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000749 "Pemphigus is a group of chronic autoimmune skin diseases characterised by blisters formation on the outer layer of the skin and the mucous membranes. Three clinical forms have been characterised, of which paraneoplastic pemphigus is extremely rare. [ Orphanet:63455 ]") -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000749 "a rare group of blistering autoimmune diseases that affect the skin and mucous membranes.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000749 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000749 "DOID:9182") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000749 "ICD10:L10") @@ -254938,7 +254572,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_1000751 "true"^^xsd:boolean) # Class: efo:EFO_1000752 (photosensitivity disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000752 "Photosensitivity refers to various symptoms, diseases and conditions caused or aggravated by exposure to sunlight.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000752 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000752 "http://www.dermnetnz.org/reactions/photosensitivity.html") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000752 "DOID:3159") @@ -254951,7 +254584,6 @@ SubClassOf(efo:EFO_1000752 ObjectIntersectionOf(efo:EFO_0000408 ObjectSomeValues # Class: efo:EFO_1000753 (phototoxic dermatitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000753 "a form of allergic contact dermatitis in which the allergen must be activated by light to sensitize the allergic response, and to cause a rash or other systemic effects on subsequent exposure. The second and subsequent exposures produce photoallergic skin conditions which are often eczematous. In rare cases the victims die.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000753 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000753 "DOID:3818") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000753 "DOID:4407") @@ -254989,7 +254621,6 @@ SubClassOf(efo:EFO_1000755 efo:EFO_0000701) # Class: efo:EFO_1000756 (pityriasis rosea) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000756 "a skin rash. It is benign but may inflict substantial discomfort in certain cases.Classically, it begins with a single \"herald patch\" lesion, followed in 1 or 2 weeks by a generalized body rash lasting up to 12 weeks, however usually around 6 - 8.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000756 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000756 "DOID:8892") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000756 "ICD10:L42") @@ -255079,7 +254710,6 @@ SubClassOf(efo:EFO_1000763 efo:EFO_0000701) # Class: efo:EFO_1000764 (seborrheic dermatitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000764 "A dermatitis that is an inflammatory skin condition resulting in flaky, white to yellowish scales on oily areas such as the scalp or inside the ear, which is caused due to a combination of an over production of skin oil and irritation from a yeast Malassezia furfur. The symptoms include itching, skin lesions and scales, redness, plaques and hair loss.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000764 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000764 "DOID:8741") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000764 "ICD10:L21") @@ -255113,7 +254743,6 @@ SubClassOf(efo:EFO_1000765 efo:EFO_1000764) # Class: efo:EFO_1000766 (skin atrophy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000766 "The structural changes and the signs and symptoms of chronologically aged skinand those of corticosteroid induced chronicatrophyof theskinare partially very similar.Thinningof epidermis and laxity as well as dryness, purpura and echymoses occur in both conditions.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000766 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000766 "DOID:2733") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000766 "ICD10:L90") @@ -255128,7 +254757,6 @@ SubClassOf(efo:EFO_1000766 efo:EFO_0000701) # Class: efo:EFO_1000767 (skin sarcoidosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000767 "Sarcoidosis involves the skin in about 25% of patients. The most common lesions are erythema nodosum, plaques, maculopapular eruptions, subcutaneous nodules, and lupus pernio. Treatment is not required, since the lesions usually resolve spontaneously in two to four weeks. Although it may be disfiguring, cutaneous sarcoidosis rarely causes major problems.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000767 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000767 "DOID:13402") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000767 "Wikipedia:Cutaneous_manifestations_of_sarcoidosis") @@ -255158,7 +254786,6 @@ SubClassOf(efo:EFO_1000769 efo:EFO_1000728) # Class: efo:EFO_1000770 (stromal corneal pigmentation) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000770 "stromal pigmentation such as that in ochronosis results from chronic irritation. The melanin is in the superficial stroma and the basal layer of the corneal epithelium.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000770 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000770 "http://www.cybersight.org/bins/volume_page.asp?cid=1-2897-3505-3510") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000770 "DOID:12311") @@ -255240,7 +254867,6 @@ SubClassOf(efo:EFO_1000777 efo:EFO_0008622) # Class: efo:EFO_1000778 (vulvar inverted follicular keratosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000778 "Inverted follicular keratosis of the vulvar skin") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000778 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000778 "http://www.ncbi.nlm.nih.gov/pubmed/11109167") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000778 "DOID:6943") @@ -255259,7 +254885,6 @@ SubClassOf(efo:EFO_1000779 efo:EFO_0005584) # Class: efo:EFO_1000780 (autoimmune pancreatitis type 1) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000780 "Autoimmune pancreatitis (AIP) is a unique form of chronic pancreatitis characterized by high serum IgG4 concentration and a variety of complicating extra-pancreatic lesions. In particular, lachrymal/salivary gland lesions tend to manifest in a highly active AIP disease state.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000780 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000780 "PMID:25985088") AnnotationAssertion(rdfs:label efo:EFO_1000780 "autoimmune pancreatitis type 1") @@ -255340,7 +254965,6 @@ SubClassOf(efo:EFO_1000783 efo:EFO_0003100) # Class: efo:EFO_1000784 (microscopic polyangiitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000784 "A primary systemic vasculitis of small- and some medium-sized vessels. It is characterized by a tropism for kidneys and lungs, positive association with anti-neutrophil cytoplasmic antibodies (ANCA), and a paucity of immunoglobulin deposits in vessel walls.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000784 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000784 "ICD10:M31.7") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000784 "MeSH:D055953") @@ -255403,10 +255027,6 @@ SubClassOf(efo:EFO_1000785 efo:EFO_0005952) # Class: efo:EFO_1000786 (osteoarthritis, hip) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000786 "Osteoarthritis of the hip is also very common and can affect either one or both hips. -You’re most likely to feel pain deep at the front of your groin, but also at the side and front of your thigh, in your buttock or down to your knee (this is called radiated pain). -If you have severe hip osteoarthritis, you may find your affected leg seems a little shorter than the other because of the bone on either side of your joint being crunched up. -") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000786 "Sirarat Sarntivijai") AnnotationAssertion(efo:definition_citation efo:EFO_1000786 "http://www.arthritisresearchuk.org/arthritis-information/conditions/osteoarthritis/which-joints-are-affected/hips.aspx") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000786 "ICD10:M16") @@ -255514,7 +255134,6 @@ SubClassOf(efo:EFO_1000791 efo:EFO_1000478) # Class: efo:EFO_1000792 (Acinetobacter infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000792 "Infections with bacteria of the genus ACINETOBACTER.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000792 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000792 "DOID:3091") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000792 "MeSH:D000151") @@ -255635,7 +255254,6 @@ SubClassOf(efo:EFO_1000796 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000797 (adrenal gland hyperfunction) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000797 "Excess production of ADRENAL CORTEX HORMONES such as ALDOSTERONE; HYDROCORTISONE; DEHYDROEPIANDROSTERONE; and/or ANDROSTENEDIONE. Hyperadrenal syndromes include CUSHING SYNDROME; HYPERALDOSTERONISM; and VIRILISM.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000797 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000797 "DOID:3947") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000797 "MeSH:D000308") @@ -255666,7 +255284,6 @@ SubClassOf(efo:EFO_1000798 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000799 (afferent loop syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000799 "A complication of gastrojejunostomy (BILLROTH II PROCEDURE), a reconstructive GASTROENTEROSTOMY. It is caused by acute (complete) or chronic (intermittent) obstruction of the afferent jejunal loop due to HERNIA, intussusception, kinking, VOLVULUS, etc. It is characterized by PAIN and VOMITING of BILE-stained fluid.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000799 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000799 "DOID:8438") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000799 "MeSH:D000343") @@ -255697,7 +255314,6 @@ SubClassOf(efo:EFO_1000800 efo:EFO_0000677) # Class: efo:EFO_1000801 (alcoholic cardiomyopathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000801 "Disease of CARDIAC MUSCLE resulting from chronic excessive alcohol consumption. Myocardial damage can be caused by: (1) a toxic effect of alcohol; (2) malnutrition in alcoholics such as THIAMINE DEFICIENCY; or (3) toxic effect of additives in alcoholic beverages such as COBALT. This disease is usually manifested by DYSPNEA and palpitations with CARDIOMEGALY and congestive heart failure (HEART FAILURE).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000801 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000801 "DOID:12935") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000801 "ICD10:I42.6") @@ -255714,7 +255330,6 @@ SubClassOf(efo:EFO_1000801 efo:EFO_0000318) # Class: efo:EFO_1000802 (alcoholic liver cirrhosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000802 "FIBROSIS of the hepatic parenchyma due to chronic excess ALCOHOL DRINKING.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000802 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000802 "DOID:14018") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000802 "ICD10:K70.3") @@ -255813,7 +255428,6 @@ SubClassOf(efo:EFO_1000808 efo:EFO_0002970) # Class: efo:EFO_1000809 (anterior ischemic optic neuropathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000809 "Ischemic injury to the OPTIC NERVE which usually affects the OPTIC DISK (optic neuropathy, anterior ischemic) and less frequently the retrobulbar portion of the nerve (optic neuropathy, posterior ischemic). The injury results from occlusion of arterial blood supply which may result from TEMPORAL ARTERITIS; ATHEROSCLEROSIS; COLLAGEN DISEASES; EMBOLISM; DIABETES MELLITUS; and other conditions. The disease primarily occurs in the sixth decade or later and presents with the sudden onset of painless and usually severe monocular visual loss. Anterior ischemic optic neuropathy also features optic disk edema with microhemorrhages. The optic disk appears normal in posterior ischemic optic neuropathy. (Glaser, Neuro-Ophthalmology, 2nd ed, p135)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000809 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000809 "DOID:12010") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000809 "MeSH:D018917") @@ -255827,7 +255441,6 @@ SubClassOf(efo:EFO_1000809 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000810 (anterior spinal artery syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000810 "Ischemia or infarction of the spinal cord in the distribution of the anterior spinal artery, which supplies the ventral two-thirds of the spinal cord. This condition is usually associated with ATHEROSCLEROSIS of the aorta and may result from dissection of an AORTIC ANEURYSM or rarely dissection of the anterior spinal artery. Clinical features include weakness and loss of pain and temperature sensation below the level of injury, with relative sparing of position and vibratory sensation. (From Adams et al., Principles of Neurology, 6th ed, pp1249-50)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000810 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000810 "DOID:6712") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000810 "MeSH:D020759") @@ -255867,7 +255480,6 @@ SubClassOf(efo:EFO_1000812 efo:EFO_0000612) # Class: efo:EFO_1000813 (anthracosilicosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000813 "A form of pneumoconiosis caused by inhalation of dust that contains both CARBON and crystalline SILICON DIOXIDE. These foreign matters induce fibrous nodule formation in the lung.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000813 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000813 "DOID:10324") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000813 "MeSH:D000874") @@ -255879,7 +255491,6 @@ AnnotationAssertion(rdfs:label efo:EFO_1000813 "anthracosilicosis") # Class: efo:EFO_1000814 (anthracosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000814 "A diffuse parenchymal lung disease caused by accumulation of inhaled CARBON or coal dust. The disease can progress from asymptomatic anthracosis to massive lung fibrosis. This lung lesion usually occurs in coal MINERS, but can be seen in urban dwellers and tobacco smokers.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000814 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000814 "DOID:10327") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000814 "ICD10:J60") @@ -256091,7 +255702,6 @@ SubClassOf(efo:EFO_1000826 efo:EFO_0000217) # Class: efo:EFO_1000827 (atrophy of thyroid) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000827 "Defective development of the THYROID GLAND. This concept includes thyroid agenesis (aplasia), hypoplasia, or an ectopic gland. Clinical signs usually are those of CONGENITAL HYPOTHYROIDISM.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000827 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000827 "DOID:2853") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000827 "ICD10:E03.4") @@ -256315,7 +255925,6 @@ SubClassOf(efo:EFO_1000839 efo:EFO_1000018) # Class: efo:EFO_1000840 (bladder neck obstruction) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000840 "Blocked urine flow through the bladder neck, the narrow internal urethral opening at the base of the URINARY BLADDER. Narrowing or strictures of the URETHRA can be congenital or acquired. It is often observed in males with enlarged PROSTATE glands.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000840 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000840 "DOID:13948") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000840 "ICD10:N35") @@ -256365,7 +255974,6 @@ SubClassOf(efo:EFO_1000841 efo:EFO_0009675) # Class: efo:EFO_1000842 (Borrelia infectious disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000842 "Infections with bacteria of the genus BORRELIA.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000842 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000842 "DOID:11730") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000842 "MeSH:D001899") @@ -256463,7 +256071,6 @@ SubClassOf(efo:EFO_1000848 efo:EFO_0003869) # Class: efo:EFO_1000849 (bronchial neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000849 "Tumors or cancer of the BRONCHI.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000849 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000849 "DOID:3906") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000849 "MeSH:D001984") @@ -256493,7 +256100,6 @@ SubClassOf(efo:EFO_1000850 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000851 (byssinosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000851 "A condition of BRONCHOCONSTRICTION resulting from hypersensitive reaction to inhaled dust during the initial processing of cotton, flax, or hemp in the textile industry. Symptoms include wheezing and tightness in the chest.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000851 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000851 "DOID:10323") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000851 "ICD10:J66.0") @@ -256541,7 +256147,6 @@ AnnotationAssertion(skos:exactMatch efo:EFO_1000852 obo:NCIT_C3215) # Class: efo:EFO_1000853 (carotid artery thrombosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000853 "Blood clot formation in any part of the CAROTID ARTERIES. This may produce CAROTID STENOSIS or occlusion of the vessel, leading to TRANSIENT ISCHEMIC ATTACK; CEREBRAL INFARCTION; or AMAUROSIS FUGAX.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000853 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000853 "DOID:3410") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000853 "MeSH:D002341") @@ -256569,7 +256174,6 @@ SubClassOf(efo:EFO_1000854 efo:EFO_1001998) # Class: efo:EFO_1000855 (central core myopathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000855 "An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000855 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000855 "DOID:3529") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000855 "MeSH:D020512") @@ -256885,7 +256489,6 @@ SubClassOf(efo:EFO_1000877 efo:EFO_0004263) # Class: efo:EFO_1000878 (constrictive pericarditis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000878 "Inflammation of the PERICARDIUM that is characterized by the fibrous scarring and adhesion of both serous layers, the VISCERAL PERICARDIUM and the PARIETAL PERICARDIUM leading to the loss of pericardial cavity. The thickened pericardium severely restricts cardiac filling. Clinical signs include FATIGUE, muscle wasting, and WEIGHT LOSS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000878 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000878 "DOID:11481") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000878 "ICD9:423.2") @@ -256927,7 +256530,6 @@ SubClassOf(efo:EFO_1000879 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000880 (corneal neovascularization) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000880 "New blood vessels originating from the corneal veins and extending from the limbus into the adjacent CORNEAL STROMA. Neovascularization in the superficial and/or deep corneal stroma is a sequel to numerous inflammatory diseases of the ocular anterior segment, such as TRACHOMA, viral interstitial KERATITIS, microbial KERATOCONJUNCTIVITIS, and the immune response elicited by CORNEAL TRANSPLANTATION.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000880 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000880 "DOID:11382") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000880 "ICD9:370.6") @@ -256997,7 +256599,6 @@ SubClassOf(efo:EFO_1000883 efo:EFO_0001645) # Class: efo:EFO_1000884 (cranial nerve malignant neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000884 "Benign and malignant neoplasms that arise from one or more of the twelve cranial nerves.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000884 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000884 "DOID:2815") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000884 "MeSH:D003390") @@ -257282,7 +256883,6 @@ SubClassOf(efo:EFO_1000895 efo:EFO_1001968) # Class: efo:EFO_1000896 (diabetic angiopathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000896 "VASCULAR DISEASES that are associated with DIABETES MELLITUS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000896 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000896 "DOID:11713") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000896 "MeSH:D003925") @@ -257290,7 +256890,7 @@ AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000896 "SNOMEDCT:127014009") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_1000896 "Diabetic Angiopathies") AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_1000896 "Diabetic vascular disorder") AnnotationAssertion(rdfs:label efo:EFO_1000896 "diabetic angiopathy") -SubClassOf(efo:EFO_1000896 efo:EFO_0003875) +EquivalentClasses(efo:EFO_1000896 ObjectIntersectionOf(efo:EFO_0003875 ObjectSomeValuesFrom(obo:RO_0004022 obo:MONDO_0005148) ObjectSomeValuesFrom(obo:RO_0004025 obo:CL_0000669))) # Class: efo:EFO_1000897 (diabetic ketoacidosis) @@ -257310,7 +256910,6 @@ SubClassOf(efo:EFO_1000897 efo:EFO_0000400) # Class: efo:EFO_1000898 (diaphragmatic eventration) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000898 "A congenital abnormality characterized by the elevation of the DIAPHRAGM dome. It is the result of a thinned diaphragmatic muscle and injured PHRENIC NERVE, allowing the intra-abdominal viscera to push the diaphragm upward against the LUNG.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000898 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000898 "DOID:10480") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000898 "MeSH:D003965") @@ -257704,7 +257303,6 @@ SubClassOf(efo:EFO_1000920 efo:EFO_0004230) # Class: efo:EFO_1000921 (endomyocardial fibrosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000921 "A condition characterized by the thickening of the ventricular ENDOCARDIUM and subendocardium (MYOCARDIUM), seen mostly in children and young adults in the TROPICAL CLIMATE. The fibrous tissue extends from the apex toward and often involves the HEART VALVES causing restrictive blood flow into the respective ventricles (CARDIOMYOPATHY, RESTRICTIVE).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000921 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000921 "DOID:12932") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000921 "MeSH:D004719") @@ -257747,7 +257345,6 @@ SubClassOf(efo:EFO_1000923 efo:EFO_0003828) # Class: efo:EFO_1000924 (epilepsia partialis continua) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000924 "A variant of epilepsy characterized by continuous focal jerking of a body part over a period of hours, days, or even years without spreading to other body regions. Contractions may be aggravated by movement and are reduced, but not abolished during sleep. ELECTROENCEPHALOGRAPHY demonstrates epileptiform (spike and wave) discharges over the hemisphere opposite to the affected limb in most instances. The repetitive movements may originate from the CEREBRAL CORTEX or from subcortical structures (e.g., BRAIN STEM; BASAL GANGLIA). This condition is associated with Russian Spring and Summer encephalitis (see ENCEPHALITIS, TICK BORNE); Rasmussen syndrome (see ENCEPHALITIS); MULTIPLE SCLEROSIS; DIABETES MELLITUS; BRAIN NEOPLASMS; and CEREBROVASCULAR DISORDERS. (From Brain, 1996 April;119(pt2):393-407; Epilepsia 1993;34;Suppl 1:S29-S36; and Adams et al., Principles of Neurology, 6th ed, p319)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000924 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000924 "DOID:11349") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000924 "ICD9:345.7") @@ -257911,7 +257508,6 @@ SubClassOf(efo:EFO_1000932 efo:EFO_0009001) # Class: efo:EFO_1000933 (extrahepatic cholestasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000933 "Impairment of bile flow in the large BILE DUCTS by mechanical obstruction or stricture due to benign or malignant processes.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000933 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000933 "DOID:13619") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000933 "MeSH:D001651") @@ -258000,7 +257596,6 @@ SubClassOf(efo:EFO_1000938 obo:MONDO_0000473) # Class: efo:EFO_1000939 (freemartinism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000939 "A condition occurring in the female offspring of dizygotic twins (TWIN, DIZYGOTIC) in a mixed-sex pregnancy, usually in CATTLE. Freemartinism can occur in other mammals. When placental fusion between the male and the female FETUSES permits the exchange of fetal cells and fetal hormones, TESTICULAR HORMONES from the male fetus can androgenize the female fetus producing a sterile XX/XY chimeric \"female\"(CHIMERISM).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000939 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000939 "DOID:4671") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000939 "MeSH:D005611") @@ -258038,7 +257633,6 @@ SubClassOf(efo:EFO_1000941 efo:EFO_0002970) # Class: efo:EFO_1000942 (fungal meningitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000942 "Meningitis caused by fungal agents which may occur as OPPORTUNISTIC INFECTIONS or arise in immunocompetent hosts.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000942 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000942 "DOID:11608") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000942 "MeSH:D016921") @@ -258125,7 +257719,6 @@ SubClassOf(efo:EFO_1000947 efo:EFO_0000405) # Class: efo:EFO_1000948 (gastroparesis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000948 "Chronic delayed gastric emptying. Gastroparesis may be caused by motor dysfunction or paralysis of STOMACH muscles or may be associated with other systemic diseases such as DIABETES MELLITUS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000948 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000948 "DOID:11914") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000948 "MeSH:D018589") @@ -258460,7 +258053,6 @@ SubClassOf(efo:EFO_1000965 efo:EFO_1002003) # Class: efo:EFO_1000966 (hepatic vein thrombosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000966 "A condition in which the hepatic venous outflow is obstructed anywhere from the small HEPATIC VEINS to the junction of the INFERIOR VENA CAVA and the RIGHT ATRIUM. Usually the blockage is extrahepatic and caused by blood clots (THROMBUS) or fibrous webs. Parenchymal FIBROSIS is uncommon.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000966 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000966 "DOID:11512") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000966 "ICD9:453.0") @@ -258560,7 +258152,6 @@ SubClassOf(efo:EFO_1000971 efo:EFO_0009682) # Class: efo:EFO_1000972 (hyperglobulinemic purpura) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000972 "Purplish or brownish red discoloration of the skin associated with increase in circulating polyclonal globulins, usually GAMMA-GLOBULINS. This syndrome often occurs on the legs of women aged 20 to 40 years.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000972 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000972 "DOID:3325") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000972 "MeSH:D011694") @@ -258572,7 +258163,6 @@ SubClassOf(efo:EFO_1000972 efo:EFO_0000701) # Class: efo:EFO_1000973 (hyperpituitarism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000973 "Disease of the glandular, anterior portion of the pituitary (PITUITARY GLAND, ANTERIOR) resulting in hypersecretion of ADENOHYPOPHYSEAL HORMONES such as GROWTH HORMONE; PROLACTIN; THYROTROPIN; LUTEINIZING HORMONE; FOLLICLE STIMULATING HORMONE ; and ADRENOCORTICOTROPIC HORMONE. Hyperpituitarism usually is caused by a functional ADENOMA.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000973 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000973 "DOID:2444") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000973 "ICD10:E22") @@ -258597,7 +258187,6 @@ SubClassOf(efo:EFO_1000974 efo:EFO_1002003) # Class: efo:EFO_1000975 (hypersplenism) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000975 "Condition characterized by splenomegaly, some reduction in the number of circulating blood cells in the presence of a normal or hyperactive bone marrow, and the potential for reversal by splenectomy.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000975 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000975 "DOID:6376") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000975 "ICD9:289.4") @@ -258730,7 +258319,6 @@ SubClassOf(efo:EFO_1000981 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000982 (inappropriate ADH syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000982 "A condition of HYPONATREMIA and renal salt loss attributed to overexpansion of BODY FLUIDS resulting from sustained release of ANTIDIURETIC HORMONES which stimulates renal resorption of water. It is characterized by normal KIDNEY function, high urine OSMOLALITY, low serum osmolality, and neurological dysfunction. Etiologies include ADH-producing neoplasms, injuries or diseases involving the HYPOTHALAMUS, the PITUITARY GLAND, and the LUNG. This syndrome can also be drug-induced.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000982 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000982 "DOID:3401") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000982 "MeSH:D007177") @@ -258746,7 +258334,6 @@ SubClassOf(efo:EFO_1000982 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000983 (inferior myocardial infarction) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000983 "MYOCARDIAL INFARCTION in which the inferior wall of the heart is involved. It is often caused by occlusion of the right coronary artery.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000983 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000983 "DOID:5850") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000983 "MeSH:D056989") @@ -258791,7 +258378,6 @@ SubClassOf(efo:EFO_1000984 ObjectSomeValuesFrom(obo:RO_0000056 obo:GO_0006954)) # Class: efo:EFO_1000985 (intermediate coronary syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000985 "Precordial pain at rest, which may precede a MYOCARDIAL INFARCTION.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000985 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000985 "DOID:8805") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000985 "ICD9:411.1") @@ -258826,7 +258412,6 @@ SubClassOf(efo:EFO_1000986 efo:EFO_1001231) # Class: efo:EFO_1000987 (intestinal perforation) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000987 "Opening or penetration through the wall of the INTESTINES.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000987 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000987 "DOID:2074") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000987 "ICD10:P78.0") @@ -258914,7 +258499,6 @@ SubClassOf(efo:EFO_1000992 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000993 (intracranial hypotension) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000993 "Reduction of CEREBROSPINAL FLUID pressure characterized clinically by HEADACHE which is maximal in an upright posture and occasionally by an abducens nerve palsy (see ABDUCENS NERVE DISEASES), neck stiffness, hearing loss (see DEAFNESS); NAUSEA; and other symptoms. This condition may be spontaneous or secondary to SPINAL PUNCTURE; NEUROSURGICAL PROCEDURES; DEHYDRATION; UREMIA; trauma (see also CRANIOCEREBRAL TRAUMA); and other processes. Chronic hypotension may be associated with subdural hematomas (see HEMATOMA, SUBDURAL) or hygromas. (From Semin Neurol 1996 Mar;16(1):5-10; Adams et al., Principles of Neurology, 6th ed, pp637-8)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000993 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000993 "DOID:4723") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000993 "MeSH:D019585") @@ -258976,7 +258560,6 @@ SubClassOf(efo:EFO_1000996 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1000997 (iritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1000997 "Inflammation of the iris characterized by circumcorneal injection, aqueous flare, keratotic precipitates, and constricted and sluggish pupil along with discoloration of the iris.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1000997 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000997 "DOID:1406") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000997 "MeSH:D007500") @@ -259092,7 +258675,6 @@ SubClassOf(efo:EFO_1001002 efo:EFO_0010238) # Class: efo:EFO_1001003 (kidney cortex necrosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001003 "Death of cells in the KIDNEY CORTEX, a common final result of various renal injuries including HYPOXIA; ISCHEMIA; and drug toxicity.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001003 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001003 "DOID:2973") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001003 "MeSH:D007673") @@ -259167,7 +258749,6 @@ SubClassOf(efo:EFO_1001007 efo:EFO_0000313) # Class: efo:EFO_1001008 (kuru) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001008 "A prion disease found exclusively among the Fore linguistic group natives of the highlands of NEW GUINEA. The illness is primarily restricted to adult females and children of both sexes. It is marked by the subacute onset of tremor and ataxia followed by motor weakness and incontinence. Death occurs within 3-6 months of disease onset. The condition is associated with ritual cannibalism, and has become rare since this practice has been discontinued. Pathologic features include a noninflammatory loss of neurons that is most prominent in the cerebellum, glial proliferation, and amyloid plaques. (From Adams et al., Principles of Neurology, 6th ed, p773)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001008 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001008 "DOID:648") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001008 "ICD10:A81.81") @@ -259211,7 +258792,6 @@ SubClassOf(efo:EFO_1001010 efo:EFO_0000474) # Class: efo:EFO_1001011 (lateral medullary syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001011 "INFARCTION of the dorsolateral aspect of MEDULLA OBLONGATA in the BRAIN STEM. It is caused by occlusion of the VERTEBRAL ARTERY and/or the posterior inferior cerebellar artery. Clinical manifestations vary with the size of infarction, but may include loss of pain and temperature sensation in the ipsilateral face and contralateral body below the chin; ipsilateral HORNER SYNDROME; ipsilateral ATAXIA; DYSARTHRIA; VERTIGO; nausea, hiccup; dysphagia; and VOCAL CORD PARALYSIS. (From Adams et al., Principles of Neurology, 6th ed, p801)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001011 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001011 "DOID:3522") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001011 "MeSH:D014854") @@ -259243,7 +258823,6 @@ SubClassOf(efo:EFO_1001012 efo:EFO_0009709) # Class: efo:EFO_1001013 (lethal midline granuloma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001013 "A condition that is characterized by inflammation, ulceration, and perforation of the nose and the PALATE with progressive destruction of midline facial structures. This syndrome can be manifested in several diseases including the nasal type of EXTRANODAL NK-T-CELL LYMPHOMA and GRANULOMATOSIS WITH POLYANGIITIS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001013 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001013 "DOID:9072") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001013 "ICD10:M31.2") @@ -259302,7 +258881,6 @@ SubClassOf(efo:EFO_1001015 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001016 (leukostasis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001016 "Abnormal intravascular leukocyte aggregation and clumping often seen in leukemia patients. The brain and lungs are the two most commonly affected organs. This acute syndrome requires aggressive cytoreductive modalities including chemotherapy and/or leukophoresis. It is differentiated from LEUKEMIC INFILTRATION which is a neoplastic process where leukemic cells invade organs.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001016 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001016 "DOID:12986") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001016 "MeSH:D018921") @@ -259472,7 +259050,6 @@ SubClassOf(efo:EFO_1001023 efo:EFO_0000771) # Class: efo:EFO_1001024 (Lutembacher's syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001024 "A condition characterized by a combination of OSTIUM SECUNDUM ATRIAL SEPTAL DEFECT and an acquired MITRAL VALVE STENOSIS.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001024 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001024 "DOID:1998") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001024 "MeSH:D008185") @@ -259535,7 +259112,6 @@ SubClassOf(efo:EFO_1001027 efo:EFO_1000464) # Class: efo:EFO_1001028 (macular holes) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001028 "Perforations through the whole thickness of the retina including the macula as the result of inflammation, trauma, degeneration, etc. The concept includes retinal breaks, tears, dialyses, and holes.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001028 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001028 "DOID:7633") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001028 "MeSH:D012167") @@ -259565,7 +259141,6 @@ SubClassOf(efo:EFO_1001029 efo:EFO_1001067) # Class: efo:EFO_1001030 (male genital tuberculosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001030 "MYCOBACTERIUM infections of the male reproductive tract (GENITALIA, MALE).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001030 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001030 "DOID:8024") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001030 "MeSH:D014389") @@ -259734,7 +259309,6 @@ SubClassOf(efo:EFO_1001038 efo:EFO_0003820) # Class: efo:EFO_1001039 (Melkersson-Rosenthal syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001039 "An idiopathic syndrome characterized by one or more of the following; recurrent orofacial swelling, relapsing facial paralysis, and fissured tongue (lingua plicata). The onset is usually in childhood and relapses are common. Cheilitis granulomatosa is a monosymptomatic variant of this condition. (Dermatol Clin 1996 Apr;14(2):371-9; Magalini & Magalini, Dictionary of Medical Syndromes, 4th ed, p531)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001039 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001039 "DOID:1761") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001039 "MeSH:D008556") @@ -260072,7 +259646,6 @@ SubClassOf(efo:EFO_1001054 efo:EFO_0004145) # Class: efo:EFO_1001055 (myxedema) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001055 "A condition characterized by a dry, waxy type of swelling (EDEMA) with abnormal deposits of MUCOPOLYSACCHARIDES in the SKIN and other tissues. It is caused by a deficiency of THYROID HORMONES. The skin becomes puffy around the eyes and on the cheeks. The face is dull and expressionless with thickened nose and lips.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001055 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001055 "DOID:11634") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001055 "MeSH:D009230") @@ -260217,7 +259790,6 @@ SubClassOf(efo:EFO_1001062 efo:EFO_0004283) # Class: efo:EFO_1001063 (noma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001063 "A severe gangrenous process occurring predominantly in debilitated and malnourished children, especially in underdeveloped countries. It typically begins as a small vesicle or ulcer on the gingiva that rapidly becomes necrotic and spreads to produce extensive destruction of the buccal and labial mucosa and tissues of the face, which may result in severe disfigurement and even death. Various bacteria have been implicated in the etiology. (Dorland, 27th ed)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001063 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001063 "DOID:9672") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001063 "MeSH:D009625") @@ -260245,7 +259817,6 @@ SubClassOf(efo:EFO_1001064 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001065 (normal pressure hydrocephalus) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001065 "A form of compensated hydrocephalus characterized clinically by a slowly progressive gait disorder (see GAIT DISORDERS, NEUROLOGIC), progressive intellectual decline, and URINARY INCONTINENCE. Spinal fluid pressure tends to be in the high normal range. This condition may result from processes which interfere with the absorption of CSF including SUBARACHNOID HEMORRHAGE, chronic MENINGITIS, and other conditions. (From Adams et al., Principles of Neurology, 6th ed, pp631-3)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001065 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001065 "DOID:1572") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001065 "MeSH:D006850") @@ -260364,7 +259935,6 @@ SubClassOf(efo:EFO_1001072 efo:EFO_0000771) # Class: efo:EFO_1001073 (optic nerve neoplasm) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001073 "Benign and malignant neoplasms that arise from the optic nerve or its sheath. OPTIC NERVE GLIOMA is the most common histologic type. Optic nerve neoplasms tend to cause unilateral visual loss and an afferent pupillary defect and may spread via neural pathways to the brain.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001073 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001073 "DOID:3419") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001073 "MeSH:D019574") @@ -260640,7 +260210,6 @@ SubClassOf(efo:EFO_1001087 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001088 (pars planitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001088 "Form of granulomatous uveitis occurring in the region of the pars plana. This disorder is a common condition with no detectable focal pathology. It causes fibrovascular proliferation at the inferior ora serrata.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001088 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001088 "DOID:12731") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001088 "MeSH:D015868") @@ -260810,7 +260379,6 @@ SubClassOf(efo:EFO_1001098 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001099 (perinephritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001099 "Inflammation of the connective and adipose tissues surrounding the KIDNEY.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001099 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001099 "DOID:2982") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001099 "MeSH:D010501") @@ -260864,7 +260432,6 @@ SubClassOf(efo:EFO_1001101 efo:EFO_0005774) # Class: efo:EFO_1001102 (peroneal nerve paralysis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001102 "Disease involving the common PERONEAL NERVE or its branches, the deep and superficial peroneal nerves. Lesions of the deep peroneal nerve are associated with PARALYSIS of dorsiflexion of the ankle and toes and loss of sensation from the web space between the first and second toe. Lesions of the superficial peroneal nerve result in weakness or paralysis of the peroneal muscles (which evert the foot) and loss of sensation over the dorsal and lateral surface of the leg. Traumatic injury to the common peroneal nerve near the head of the FIBULA is a relatively common cause of this condition. (From Joynt, Clinical Neurology, 1995, Ch51, p31)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001102 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001102 "DOID:6925") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001102 "MeSH:D020427") @@ -261107,7 +260674,6 @@ SubClassOf(efo:EFO_1001114 efo:EFO_1000831) # Class: efo:EFO_1001115 (POEMS syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001115 "A multisystemic disorder characterized by a sensorimotor polyneuropathy (POLYNEUROPATHIES), organomegaly, endocrinopathy, monoclonal gammopathy, and pigmentary skin changes. Other clinical features which may be present include EDEMA; CACHEXIA; microangiopathic glomerulopathy; pulmonary hypertension (HYPERTENSION, PULMONARY); cutaneous necrosis; THROMBOCYTOSIS; and POLYCYTHEMIA. This disorder is frequently associated with osteosclerotic myeloma. (From Adams et al., Principles of Neurology, 6th ed, p1335; Rev Med Interne 1997;18(7):553-62)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001115 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001115 "DOID:14039") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001115 "MeSH:D016878") @@ -261323,7 +260889,6 @@ SubClassOf(efo:EFO_1001131 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001132 (pseudotumor cerebri) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001132 "A condition marked by raised intracranial pressure and characterized clinically by HEADACHES; NAUSEA; PAPILLEDEMA, peripheral constriction of the visual fields, transient visual obscurations, and pulsatile TINNITUS. OBESITY is frequently associated with this condition, which primarily affects women between 20 and 44 years of age. Chronic PAPILLEDEMA may lead to optic nerve injury (see OPTIC NERVE DISEASES) and visual loss (see BLINDNESS).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001132 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001132 "DOID:11459") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001132 "MeSH:D011559") @@ -261378,7 +260943,6 @@ SubClassOf(efo:EFO_1001134 efo:EFO_0000684) # Class: efo:EFO_1001135 (pulmonary plasma cell granuloma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001135 "A tumor-like inflammatory lesion of the lung that is composed of PLASMA CELLS and fibrous tissue. It is also known as an inflammatory pseudotumor, often with calcification and measuring between 2 and 5 cm in diameter.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001135 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001135 "DOID:3677") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001135 "MeSH:D016726") @@ -261418,7 +260982,6 @@ SubClassOf(efo:EFO_1001137 efo:EFO_0009564) # Class: efo:EFO_1001138 (pulmonary valve stenosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001138 "The pathologic narrowing of the orifice of the PULMONARY VALVE. This lesion restricts blood outflow from the RIGHT VENTRICLE to the PULMONARY ARTERY. When the trileaflet valve is fused into an imperforate membrane, the blockage is complete.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001138 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001138 "DOID:6420") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001138 "MeSH:D011666") @@ -261447,7 +261010,6 @@ SubClassOf(efo:EFO_1001139 efo:EFO_0009540) # Class: efo:EFO_1001140 (pyelitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001140 "Inflammation of the KIDNEY PELVIS and KIDNEY CALICES where urine is collected before discharge, but does not involve the renal parenchyma (the NEPHRONS) where urine is processed.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001140 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001140 "DOID:2744") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001140 "MeSH:D011702") @@ -261543,7 +261105,6 @@ SubClassOf(efo:EFO_1001145 efo:EFO_0003875) # Class: efo:EFO_1001146 (reflex epilepsy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001146 "A subtype of epilepsy characterized by seizures that are consistently provoked by a certain specific stimulus. Auditory, visual, and somatosensory stimuli as well as the acts of writing, reading, eating, and decision making are examples of events or activities that may induce seizure activity in affected individuals. (From Neurol Clin 1994 Feb;12(1):57-8)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001146 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001146 "DOID:2548") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001146 "MeSH:D020195") @@ -262014,7 +261575,6 @@ SubClassOf(efo:EFO_1001175 efo:EFO_0005772) # Class: efo:EFO_1001176 (sensorineural hearing loss) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001176 "Hearing loss due to disease of the AUDITORY PATHWAYS (in the CENTRAL NERVOUS SYSTEM) which originate in the COCHLEAR NUCLEI of the PONS and then ascend bilaterally to the MIDBRAIN, the THALAMUS, and then the AUDITORY CORTEX in the TEMPORAL LOBE. Bilateral lesions of the auditory pathways are usually required to cause central hearing loss. Cortical deafness refers to loss of hearing due to bilateral auditory cortex lesions. Unilateral BRAIN STEM lesions involving the cochlear nuclei may result in unilateral hearing loss.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001176 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001176 "DOID:10003") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001176 "ICD10:H90") @@ -262139,7 +261699,6 @@ SubClassOf(efo:EFO_1001181 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001182 (silo filler's disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001182 "A form of alveolitis or PNEUMONITIS caused by hypersensitivity to high level of inhaled nitrogen oxides, decomposition products of silage.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001182 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001182 "DOID:4374") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001182 "MeSH:D012832") @@ -262228,7 +261787,6 @@ SubClassOf(efo:EFO_1001185 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ef # Class: efo:EFO_1001186 (Sneddon syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001186 "A systemic non-inflammatory arteriopathy primarily of middle-aged females characterized by the association of livedo reticularis, multiple thrombotic CEREBRAL INFARCTION; CORONARY DISEASE, and HYPERTENSION. Elevation of antiphospholipid antibody titers (see also ANTIPHOSPHOLIPID SYNDROME), cardiac valvulopathy, ISCHEMIC ATTACK, TRANSIENT; SEIZURES; DEMENTIA; and chronic ischemia of the extremities may also occur. Pathologic examination of affected arteries reveals non-inflammatory adventitial fibrosis, thrombosis, and changes in the media. (From Jablonski, Dictionary of Syndromes & Eponymic Diseases, 2d ed; Adams et al., Principles of Neurology, 6th ed, p861; Arch Neurol 1997 Jan;54(1):53-60)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001186 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001186 "DOID:13096") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001186 "MeSH:D018860") @@ -262383,7 +261941,6 @@ SubClassOf(efo:EFO_1001193 ObjectSomeValuesFrom(obo:RO_0000056 efo:EFO_0000544)) # Class: efo:EFO_1001194 (subacute thyroiditis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001194 "Spontaneously remitting inflammatory condition of the THYROID GLAND, characterized by FEVER; MUSCLE WEAKNESS; SORE THROAT; severe thyroid PAIN; and an enlarged damaged gland containing GIANT CELLS. The disease frequently follows a viral infection.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001194 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001194 "DOID:7165") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001194 "MeSH:D013968") @@ -262419,7 +261976,6 @@ SubClassOf(efo:EFO_1001195 efo:EFO_0003763) # Class: efo:EFO_1001196 (subdural empyema) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001196 "An intracranial or rarely intraspinal suppurative process invading the space between the inner surface of the DURA MATER and the outer surface of the ARACHNOID.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001196 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001196 "DOID:11389") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001196 "MeSH:D013354") @@ -262449,7 +262005,6 @@ SubClassOf(efo:EFO_1001197 efo:EFO_0002422) # Class: efo:EFO_1001198 (substernal goiter) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001198 "An enlarged THYROID GLAND with at least 50% of the gland situated behind the STERNUM. It is an unusual presentation of an intrathoracic goiter. Substernal goiters frequently cause compression on the TRACHEA leading to deviation, narrowing, and respiratory symptoms.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001198 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001198 "DOID:13200") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001198 "MeSH:D006045") @@ -262462,7 +262017,6 @@ SubClassOf(efo:EFO_1001198 efo:EFO_0004283) # Class: efo:EFO_1001199 (subvalvular aortic stenosis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001199 "A pathological constriction occurring in the region below the AORTIC VALVE. It is characterized by restricted outflow from the LEFT VENTRICLE into the AORTA.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001199 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001199 "DOID:5805") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001199 "MeSH:D001020") @@ -262505,7 +262059,6 @@ SubClassOf(efo:EFO_1001201 efo:EFO_1000908) # Class: efo:EFO_1001202 (suppurative periapical periodontitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001202 "Acute or chronic inflammation of tissues surrounding the apical portion of a tooth, associated with the collection of pus, resulting from infection following pulp infection through a carious lesion or as a result of an injury causing pulp necrosis. (Dorland, 27th ed)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001202 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001202 "DOID:2562") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001202 "MeSH:D010482") @@ -262565,7 +262118,6 @@ SubClassOf(efo:EFO_1001205 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001206 (syphilitic aortitis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001206 "Cardiovascular manifestations of SYPHILIS, an infection of TREPONEMA PALLIDUM. In the late stage of syphilis, sometimes 20-30 years after the initial infection, damages are often seen in the blood vessels including the AORTA and the AORTIC VALVE. Clinical signs include syphilitic aortitis, aortic insufficiency, or aortic ANEURYSM.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001206 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001206 "DOID:11582") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001206 "ICD10:A52.02") @@ -262634,7 +262186,6 @@ SubClassOf(efo:EFO_1001209 efo:EFO_0009011) # Class: efo:EFO_1001210 (tethered spinal cord syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001210 "Congenital defects of closure of one or more vertebral arches, which may be associated with malformations of the spinal cord, nerve roots, congenital fibrous bands, lipomas, and congenital cysts. These malformations range from mild (e.g., SPINA BIFIDA OCCULTA) to severe, including rachischisis where there is complete failure of neural tube and spinal cord fusion, resulting in exposure of the spinal cord at the surface. Spinal dysraphism includes all forms of spina bifida. The open form is called SPINA BIFIDA CYSTICA and the closed form is SPINA BIFIDA OCCULTA. (From Joynt, Clinical Neurology, 1992, Ch55, p34)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001210 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001210 "DOID:1089") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001210 "MeSH:D016135") @@ -262685,7 +262236,6 @@ SubClassOf(efo:EFO_1001212 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001213 (tibial neuropathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001213 "Disease of the TIBIAL NERVE (also referred to as the posterior tibial nerve). The most commonly associated condition is the TARSAL TUNNEL SYNDROME. However, LEG INJURIES; ISCHEMIA; and inflammatory conditions (e.g., COLLAGEN DISEASES) may also affect the nerve. Clinical features include PARALYSIS of plantar flexion, ankle inversion and toe flexion as well as loss of sensation over the sole of the foot. (From Joynt, Clinical Neurology, 1995, Ch51, p32)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001213 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001213 "DOID:1187") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001213 "MeSH:D020429") @@ -262767,7 +262317,6 @@ AnnotationAssertion(owl:deprecated efo:EFO_1001215 "true"^^xsd:boolean) # Class: efo:EFO_1001216 (tooth disease) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001216 "Any disease of the teeth") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001216 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001216 "DOID:1091") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001216 "ICD10:K08") @@ -262809,7 +262358,6 @@ SubClassOf(efo:EFO_1001218 efo:EFO_0009568) # Class: efo:EFO_1001219 (trigeminal neuralgia) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001219 "A syndrome characterized by recurrent episodes of excruciating pain lasting several seconds or longer in the sensory distribution of the TRIGEMINAL NERVE. Pain may be initiated by stimulation of trigger points on the face, lips, or gums or by movement of facial muscles or chewing. Associated conditions include MULTIPLE SCLEROSIS, vascular anomalies, ANEURYSMS, and neoplasms. (Adams et al., Principles of Neurology, 6th ed, p187)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001219 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001219 "DOID:12098") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001219 "ICD10:G50.0") @@ -262845,7 +262393,6 @@ SubClassOf(efo:EFO_1001220 efo:EFO_0004149) # Class: efo:EFO_1001221 (twin-to-twin transfusion syndrome) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001221 "Passage of blood from one fetus to another via an arteriovenous communication or other shunt, in a monozygotic twin pregnancy. It results in anemia in one twin and polycythemia in the other. (Lee et al., Wintrobe's Clinical Hematology, 9th ed, p737-8)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001221 "Dani Welter") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001221 "DOID:13576") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001221 "MeSH:D005330") @@ -262872,7 +262419,6 @@ SubClassOf(efo:EFO_1001222 efo:EFO_1002003) # Class: efo:EFO_1001223 (ulcerative proctosigmoiditis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001223 "Inflammation of the RECTUM and the distal portion of the COLON.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001223 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001223 "DOID:8775") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001223 "MeSH:D011350") @@ -262992,7 +262538,6 @@ SubClassOf(efo:EFO_1001229 efo:EFO_1000886) # Class: efo:EFO_1001230 (uveal cancer) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001230 "Tumors or cancer of the UVEA.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001230 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001230 "DOID:3479") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001230 "MeSH:D014604") @@ -263151,7 +262696,6 @@ SubClassOf(efo:EFO_1001240 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1001241 (Wernicke encephalopathy) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001241 "An acute neurological disorder characterized by the triad of ophthalmoplegia, ataxia, and disturbances of mental activity or consciousness. Eye movement abnormalities include nystagmus, external rectus palsies, and reduced conjugate gaze. THIAMINE DEFICIENCY and chronic ALCOHOLISM are associated conditions. Pathologic features include periventricular petechial hemorrhages and neuropil breakdown in the diencephalon and brainstem. Chronic thiamine deficiency may lead to KORSAKOFF SYNDROME. (Adams et al., Principles of Neurology, 6th ed, pp1139-42; Davis & Robertson, Textbook of Neuropathology, 2nd ed, pp452-3)") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001241 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001241 "DOID:2384") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001241 "MeSH:D014899") @@ -263193,7 +262737,6 @@ SubClassOf(efo:EFO_1001243 efo:EFO_1001890) # Class: efo:EFO_1001244 (xanthogranulomatous pyelonephritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001244 "A chronic inflammatory condition of the KIDNEY resulting in diffuse renal destruction, a grossly enlarged and nonfunctioning kidney associated with NEPHROLITHIASIS and KIDNEY STONES.") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001244 "Sirarat Sarntivijai") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001244 "DOID:11401") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001244 "MeSH:D011705") @@ -263669,7 +263212,6 @@ AnnotationAssertion(skos:exactMatch efo:EFO_1001278 ) # Class: efo:EFO_1001993 (scleroderma) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1001993 "A chronic disorder marked by hardening and thickening of the skin. Scleroderma can be localized or it can affect the entire body (systemic).") AnnotationAssertion(obo:IAO_0000117 efo:EFO_1001993 "Gautier Koscielny") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001993 "DOID:419") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1001993 "MeSH:D012594") @@ -270461,7 +269966,6 @@ SubClassOf(efo:EFO_1002021 ObjectSomeValuesFrom(efo:EFO_0000784 obo:UBERON_00014 # Class: efo:EFO_1002022 (Herpes simplex infection) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1002022 "A viral infectious disease that results_in_formation_of lesions, located_in mouth, located_in face, located_in genitalia, or located_in hands, has_material_basis_in Human herpesvirus 1 or has_material_basis_in Human herpesvirus 2, which are transmitted_by direct contact with an active lesion or body fluid of an infected person. [ url:http://en.wikipedia.org/wiki/Herpes_simplex url:http://www.aad.org/public/publications/pamphlets/viral_herpes_simplex.html ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1002022 "DOID:8566") AnnotationAssertion(rdfs:label efo:EFO_1002022 "Herpes simplex infection") SubClassOf(efo:EFO_1002022 efo:EFO_0000408) @@ -270503,7 +270007,6 @@ SubClassOf(efo:EFO_1002024 efo:EFO_1001476) # Class: efo:EFO_1002025 (measles) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1002025 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Measles virus, which is transmitted_by contact with oronasal secretions, or semen of an infected person. The infection has_symptom fever, has_symptom cough, has_symptom coryza, has_symptom conjunctivitis, and has_symptom maculopapular, erythematous rash. [ url:http://en.wikipedia.org/wiki/Measles ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1002025 "DOID:8622") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1002025 "MedDRA:10027011") AnnotationAssertion(rdfs:label efo:EFO_1002025 "measles") @@ -270704,7 +270207,6 @@ SubClassOf(efo:EFO_1002049 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(ob # Class: efo:EFO_1002050 (nephritis) -AnnotationAssertion(obo:IAO_0000115 efo:EFO_1002050 "Inflammation of renal tissue. [ NCIt:P378 ]") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1002050 "ICD10:N05") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1002050 "ICD10:N10") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1002050 "ICD10:N12")