From a60079832ebde4a6bf80a9db41c31d7abee945c5 Mon Sep 17 00:00:00 2001 From: Zoe May Pendlington Date: Mon, 14 Oct 2024 16:57:31 +0100 Subject: [PATCH] Added Finngen terms for #2284 --- src/ontology/efo-edit.owl | 95 ++++++++++++++++++++++++++++++++++++++- 1 file changed, 93 insertions(+), 2 deletions(-) diff --git a/src/ontology/efo-edit.owl b/src/ontology/efo-edit.owl index de909a81..2ad28f01 100644 --- a/src/ontology/efo-edit.owl +++ b/src/ontology/efo-edit.owl @@ -17228,6 +17228,16 @@ Declaration(Class(efo:EFO_0022841)) Declaration(Class(efo:EFO_0022842)) Declaration(Class(efo:EFO_0022843)) Declaration(Class(efo:EFO_0022844)) +Declaration(Class(efo:EFO_0022847)) +Declaration(Class(efo:EFO_0022848)) +Declaration(Class(efo:EFO_0022849)) +Declaration(Class(efo:EFO_0022850)) +Declaration(Class(efo:EFO_0022851)) +Declaration(Class(efo:EFO_0022852)) +Declaration(Class(efo:EFO_0022853)) +Declaration(Class(efo:EFO_0022854)) +Declaration(Class(efo:EFO_0022855)) +Declaration(Class(efo:EFO_0022856)) Declaration(Class(efo:EFO_0030000)) Declaration(Class(efo:EFO_0030001)) Declaration(Class(efo:EFO_0030002)) @@ -207598,6 +207608,87 @@ AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0022844 "stool transplantat AnnotationAssertion(rdfs:label efo:EFO_0022844 "fecal microbiota transplantation"@en) SubClassOf(efo:EFO_0022844 efo:EFO_0002571) +# Class: efo:EFO_0022847 (pelvic neoplasm) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022847 "A tumor or abnormal growth occurring in the pelvic region, which can be benign or malignant.") +AnnotationAssertion(dc:creator efo:EFO_0022847 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022847 "2024-10-14T15:32:38Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022847 "pelvic neoplasm"@en) +SubClassOf(efo:EFO_0022847 efo:EFO_0000616) + +# Class: efo:EFO_0022848 (amino-acid transport disorder) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022848 "Medical conditions associated with a failure of amino acids to be absorbed from the kidney or intestine.") +AnnotationAssertion(dc:creator efo:EFO_0022848 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022848 "2024-10-14T15:36:03Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022848 "amino-acid transport disorder"@en) +SubClassOf(efo:EFO_0022848 efo:EFO_0000589) + +# Class: efo:EFO_0022849 (popliteal nerve lesion) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022849 "Damage to the popliteal nerve, which runs through the back of the knee, potentially causing weakness, numbness, or pain in the lower leg and foot.") +AnnotationAssertion(dc:creator efo:EFO_0022849 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022849 "2024-10-14T15:37:30Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022849 "popliteal nerve lesion"@en) +SubClassOf(efo:EFO_0022849 efo:EFO_0003100) + +# Class: efo:EFO_0022850 (phantom limb syndrome) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022850 "A condition in which individuals who have had a limb amputated experience sensations, including pain, in the absent limb.") +AnnotationAssertion(dc:creator efo:EFO_0022850 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022850 "2024-10-14T15:38:31Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022850 "phantom limb syndrome"@en) +SubClassOf(efo:EFO_0022850 efo:EFO_0000618) + +# Class: efo:EFO_0022851 (thoracic root disorder) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022851 "A disorder involving irritation or compression of the nerve roots in the thoracic spine, often resulting in pain or sensory disturbances along the nerve pathway.") +AnnotationAssertion(dc:creator efo:EFO_0022851 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022851 "2024-10-14T15:40:41Z"^^xsd:dateTime) +AnnotationAssertion(oboInOwl:hasExactSynonym efo:EFO_0022851 "thoracic radiculopathy") +AnnotationAssertion(rdfs:label efo:EFO_0022851 "thoracic root disorder"@en) +SubClassOf(efo:EFO_0022851 obo:MONDO_0002959) + +# Class: efo:EFO_0022852 (conjunctival scar) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022852 "Scar tissue formation on the conjunctiva, the thin membrane covering the white part of the eye, often resulting from injury or infection.") +AnnotationAssertion(dc:creator efo:EFO_0022852 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022852 "2024-10-14T15:48:12Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022852 "conjunctival scar"@en) +SubClassOf(efo:EFO_0022852 efo:EFO_1000203) + +# Class: efo:EFO_0022853 (otorrhagia) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022853 "Bleeding from the ear, typically due to trauma, infection, or rupture of the eardrum.") +AnnotationAssertion(dc:creator efo:EFO_0022853 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022853 "2024-10-14T15:48:58Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022853 "otorrhagia"@en) +SubClassOf(efo:EFO_0022853 obo:MONDO_0021205) + +# Class: efo:EFO_0022854 (fallopian tube atrophy) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022854 "Degeneration or shrinking of the fallopian tubes, which may impair fertility and is often related to age or chronic conditions.") +AnnotationAssertion(dc:creator efo:EFO_0022854 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022854 "2024-10-14T15:49:37Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022854 "fallopian tube atrophy"@en) +SubClassOf(efo:EFO_0022854 efo:EFO_0009548) + +# Class: efo:EFO_0022855 (ovary atrophy) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022855 "Shrinking or reduction in function of the ovaries, often related to aging or hormonal changes.") +AnnotationAssertion(dc:creator efo:EFO_0022855 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022855 "2024-10-14T15:54:34Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022855 "ovary atrophy"@en) +SubClassOf(efo:EFO_0022855 efo:EFO_0005771) + +# Class: efo:EFO_0022856 (feeding problems of newborn) + +AnnotationAssertion(Annotation(efo:definition_citation "https://orcid.org/0000-0002-2417-7324") obo:IAO_0000115 efo:EFO_0022856 "Difficulties in the ability of a newborn to feed effectively, which can result from issues such as poor sucking reflex, swallowing difficulties, or gastrointestinal disorders.") +AnnotationAssertion(dc:creator efo:EFO_0022856 "Zoe May Pendlington") +AnnotationAssertion(dc:date efo:EFO_0022856 "2024-10-14T15:55:29Z"^^xsd:dateTime) +AnnotationAssertion(rdfs:label efo:EFO_0022856 "feeding problems of newborn"@en) +SubClassOf(efo:EFO_0022856 efo:EFO_0010238) + # Class: efo:EFO_0030000 (STARmap) AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:29930089") Annotation(oboInOwl:hasDbXref "https://orcid.org/0000-0002-3090-9894") obo:IAO_0000115 efo:EFO_0030000 "STARmap is an image-based technology for 3D intact-tissue RNA sequencing, which integrates hydrogel-tissue chemistry, targeted signal amplification, and in situ sequencing.") @@ -244330,14 +244421,14 @@ AnnotationAssertion(rdfs:label efo:EFO_1000202 "Complex Endometrial Hyperplasia" SubClassOf(efo:EFO_1000202 efo:EFO_0000536) SubClassOf(efo:EFO_1000202 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(obo:UBERON_0001295 ObjectSomeValuesFrom(obo:BFO_0000050 obo:UBERON_0001295)))) -# Class: efo:EFO_1000203 (Conjunctival Disorder) +# 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") AnnotationAssertion(oboInOwl:hasDbXref efo:EFO_1000203 "NCIt:C27605") -AnnotationAssertion(rdfs:label efo:EFO_1000203 "Conjunctival Disorder") +AnnotationAssertion(rdfs:label efo:EFO_1000203 "conjunctival disorder") SubClassOf(efo:EFO_1000203 efo:EFO_0009546) SubClassOf(efo:EFO_1000203 ObjectSomeValuesFrom(efo:EFO_0000784 ObjectUnionOf(obo:UBERON_0000970 ObjectSomeValuesFrom(obo:BFO_0000050 obo:UBERON_0000970))))