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Added Finngen terms for #2284 #2301

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merged 2 commits into from
Oct 14, 2024
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Added Finngen terms for #2284 #2301

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a600798
Added Finngen terms for #2284
zoependlington Oct 14, 2024
255ffd3
Fixed conflicts
zoependlington Oct 14, 2024
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95 changes: 93 additions & 2 deletions src/ontology/efo-edit.owl
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Original file line number Diff line number Diff line change
Expand Up @@ -17230,6 +17230,16 @@ Declaration(Class(efo:EFO_0022843))
Declaration(Class(efo:EFO_0022844))
Declaration(Class(efo:EFO_0022845))
Declaration(Class(efo:EFO_0022846))
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))
Expand Down Expand Up @@ -207617,6 +207627,87 @@ AnnotationAssertion(dc:date efo:EFO_0022846 "2024-10-14T10:43:10Z"^^xsd:dateTime
AnnotationAssertion(rdfs:label efo:EFO_0022846 "5' STRT-seq"@en)
SubClassOf(efo:EFO_0022846 efo:EFO_0008953)

# 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.")
Expand Down Expand Up @@ -244349,14 +244440,14 @@ 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))))

Expand Down