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# Class: obo:DOID_0050976 (spinocerebellar ataxia type 27A)
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32162847/") obo:IAO_0000115 obo:DOID_0050976 "An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/32162847/") obo:IAO_0000115 obo:DOID_0050976 "An autosomal dominant cerebellar ataxia that is characterized by general cerebellar dysfunction manifest as gait disturbances, ataxia, tremor, dysarthria, and gaze-evoked nystagmus and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/37807924/") obo:IAO_0000115 obo:DOID_0070635 "A syndrome characterized byy multiorgan dysfunction and a high rate of adverse cardiovascular outcomes arising from the interconnection between cardiovascular disease, chronic kidney disease, and metabolic risk factors associated with diabetes and obesity.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/muscledisorders.html") obo:IAO_0000115 obo:DOID_0080000 "A musculoskeletal system disease that affects the muscles.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://pmc.ncbi.nlm.nih.gov/articles/PMC5823548/") Annotation(oboInOwl:hasDbXref "url:https://www.cdc.gov/zika/czs/index.html") Annotation(oboInOwl:hasDbXref "url:https://www.who.int/news-room/fact-sheets/detail/zika-virus") obo:IAO_0000115 obo:DOID_0080180 "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.cdc.gov/zika/czs/index.html") Annotation(oboInOwl:hasDbXref "url:https://www.who.int/news-room/fact-sheets/detail/zika-virus") obo:IAO_0000115 obo:DOID_0080180 "A syndrome that is characterized in neonates by microcephaly, craniofacial disproportion, spasticity, seizures, irritability and brainstem dysfunction including feeding difficulties, ocular abnormalities and findings on neuroimaging such as calcifications, cortical disorders and ventriculomegaly and has_material_basis_in the acquisition of Zika virus (Orthoflavivirus zikaense) infection in utero.")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "url:https://pubmed.ncbi.nlm.nih.gov/25205255/") obo:IAO_0000115 obo:DOID_0080827 "A viral infectious disease that has_material_basis_in Human betaherpesvirus 5.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007645) Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/pubmed/25381298") obo:IAO_0000115 obo:DOID_0110683 "A congenital myasthenic syndrome characterized by autosomal dominant inheritance of presynaptic neuromuscular junction defects, early-onset muscle weakness, easy fatigability, delayed psychomotor development and ataxia that has_material_basis_in heterozygous mutation in the SNAP25 gene on chromosome 20p11.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rabies") Annotation(oboInOwl:hasDbXref "url:https://www.cdc.gov/yellow-book/hcp/travel-associated-infections-diseases/rabies.html") obo:IAO_0000115 obo:DOID_11260 "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in viruses in the genus Lyssavirus, which are transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis. Most human cases of rabies are caused by the Rabies virus (Lyssavirus rabies) transmitted from dogs.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007637) Annotation(dc:type obo:ECO_0007638) Annotation(oboInOwl:hasDbXref "url:http://en.wikipedia.org/wiki/Rabies") Annotation(oboInOwl:hasDbXref "url:https://wwwnc.cdc.gov/travel/yellowbook/2020/travel-related-infectious-diseases/rabies") obo:IAO_0000115 obo:DOID_11260 "A viral infectious disease that results in inflammation located in brain or located in spinal cord, has_material_basis_in Rabies virus, which is transmitted by bite of an infected animal, or transmitted by contact of mucous membranes with saliva of an infected animal. The infection has symptom fever, has symptom headache, has symptom prickling or itching sensation at the site of bite, has symptom anxiety, has symptom confusion, has symptom agitation, has symptom delirium, has symptom difficulty swallowing, has symptom hydrophobia, and has symptom paralysis.")
AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:https://www.cdc.gov/chickenpox/about/index.html") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK448191/") Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/chickenpox.html") obo:IAO_0000115 obo:DOID_8659 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:http://www.nlm.nih.gov/medlineplus/chickenpox.html") Annotation(oboInOwl:hasDbXref "url:https://www.cdc.gov/chickenpox/about/index.html") Annotation(oboInOwl:hasDbXref "url:https://www.ncbi.nlm.nih.gov/books/NBK448191/") obo:IAO_0000115 obo:DOID_8659 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.")
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AnnotationAssertion(Annotation(dc:type obo:ECO_0007644) Annotation(oboInOwl:hasDbXref "url:https://medlineplus.gov/chickenpox.html") obo:IAO_0000115 obo:DOID_8659 "A viral infectious disease that results_in infection located_in skin, has_material_basis_in Human herpesvirus 3 (Varicellovirus humanalpha3), which is transmitted_by direct contact with secretions from the rash, or transmitted_by droplet spread of respiratory secretions. The infection has_symptom anorexia, has_symptom myalgia, has_symptom nausea, has_symptom fever, has_symptom headache, has_symptom sore throat, and has_symptom blisters.")
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