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June 2019 DO release files
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Lynn Schriml authored and Lynn Schriml committed Jun 28, 2019
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Showing 100 changed files with 2,858,412 additions and 32,285 deletions.
6,238 changes: 3,690 additions & 2,548 deletions src/ontology/HumanDO.obo

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5,889 changes: 4,609 additions & 1,280 deletions src/ontology/HumanDO.owl

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20 changes: 10 additions & 10 deletions src/ontology/doid-edit.owl
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Expand Up @@ -38002,7 +38002,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_0060441"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget rdf:datatype="http://www.w3.org/2001/XMLSchema#string">A corneal dystrophy that is characterized by abnormal deposition of proteins in the cornea and is caused by mutations in TGFBI gene of chromosome 5q.</owl:annotatedTarget>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">url:https://webeye.ophth.uiowa.edu/eyeforum/cases/43-corneal-stromal-dystrophies.htm</oboInOwl:hasDbXref>
</owl:Axiom>


Expand Down Expand Up @@ -104088,7 +104088,7 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<owl:someValuesFrom rdf:resource="http://purl.obolibrary.org/obo/GENO_0000149"/>
</owl:Restriction>
</rdfs:subClassOf>
<obo:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early -childhood onset.</obo:IAO_0000115>
<obo:IAO_0000115 rdf:datatype="http://www.w3.org/2001/XMLSchema#string">An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.</obo:IAO_0000115>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">OMIM:300661</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">ORDO:3222</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">UMLS_CUI:C1970827</oboInOwl:hasDbXref>
Expand All @@ -104101,9 +104101,9 @@ OMIM mapping confirmed by DO. [LS].</rdfs:comment>
<owl:Axiom>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_0111260"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget rdf:datatype="http://www.w3.org/2001/XMLSchema#string">An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early -childhood onset.</owl:annotatedTarget>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">https://www.ncbi.nlm.nih.gov/pubmed/8253776</oboInOwl:hasDbXref>
<owl:annotatedTarget rdf:datatype="http://www.w3.org/2001/XMLSchema#string">An inherited metabolic disorder characterized by increased synthesis of phosphoribosylpyrophosphate resulting in increased production of uric acid and purine that has_material_basis_in X-linked recessive inheritance of mutations in PRPS1 on Xq22.3 that result in increased activity of the gene. The mild form of the disease has late-juvenile or early adult onset while the more severe form has infantile or early-childhood onset.</owl:annotatedTarget>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">url:https://www.ncbi.nlm.nih.gov/pubmed/20301734</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">url:https://www.ncbi.nlm.nih.gov/pubmed/8253776</oboInOwl:hasDbXref>
</owl:Axiom>


Expand Down Expand Up @@ -259130,7 +259130,7 @@ OMIM mapping by NeuroDevNet. [LS].</rdfs:comment>
<owl:annotatedSource rdf:resource="http://purl.obolibrary.org/obo/DOID_6025"/>
<owl:annotatedProperty rdf:resource="http://purl.obolibrary.org/obo/IAO_0000115"/>
<owl:annotatedTarget rdf:datatype="http://www.w3.org/2001/XMLSchema#string">A B cell deficiency that is characterized by deficiency of an immunoglobulin subtype. The clinical course and prognosis is dependent upon the severity of the selective deficiency and associated morbidity.</owl:annotatedTarget>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&amp;ns=ncit&amp;code=C27870</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">url:https://ncit.nci.nih.gov/ncitbrowser/ConceptReport.jsp?dictionary=NCI_Thesaurus&amp;ns=ncit&amp;code=C27870</oboInOwl:hasDbXref>
<oboInOwl:hasDbXref rdf:datatype="http://www.w3.org/2001/XMLSchema#string">url:https://www.ncbi.nlm.nih.gov/books/NBK507905/</oboInOwl:hasDbXref>
</owl:Axiom>

Expand Down Expand Up @@ -314345,10 +314345,10 @@ OMIM mapping confirmed by DO. [SN].</rdfs:comment>
<rdfs:label>peripartum cardiomyopathy</rdfs:label>
</owl:Class>
<rdf:Description>
<rdfs:comment>url:https://ghr.nlm.nih.gov/condition/timothy-syndrome</rdfs:comment>
<rdfs:comment>url:https://www.ncbi.nlm.nih.gov/pubmed/6846395</rdfs:comment>
</rdf:Description>
<rdf:Description>
<rdfs:comment>url:https://www.ncbi.nlm.nih.gov/pubmed/6846395</rdfs:comment>
<rdfs:comment>url:https://ghr.nlm.nih.gov/condition/timothy-syndrome</rdfs:comment>
</rdf:Description>
<rdf:Description>
<rdfs:comment>url:https://www.ncbi.nlm.nih.gov/pubmed/29901616</rdfs:comment>
Expand All @@ -314357,19 +314357,19 @@ OMIM mapping confirmed by DO. [SN].</rdfs:comment>
<owl:qualifiedCardinality rdf:datatype="http://www.w3.org/2001/XMLSchema#nonNegativeInteger">1</owl:qualifiedCardinality>
</rdf:Description>
<rdf:Description>
<owl:qualifiedCardinality rdf:datatype="http://www.w3.org/2001/XMLSchema#nonNegativeInteger">1</owl:qualifiedCardinality>
<owl:minQualifiedCardinality rdf:datatype="http://www.w3.org/2001/XMLSchema#nonNegativeInteger">2</owl:minQualifiedCardinality>
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<owl:qualifiedCardinality rdf:datatype="http://www.w3.org/2001/XMLSchema#nonNegativeInteger">1</owl:qualifiedCardinality>
</rdf:Description>


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