Skip to content

Commit

Permalink
weekly release
Browse files Browse the repository at this point in the history
  • Loading branch information
@elviram
elviram committed Jul 8, 2016
1 parent e9c6d45 commit 75a18c7
Show file tree
Hide file tree
Showing 78 changed files with 1,265,320 additions and 57,571 deletions.
659 changes: 337 additions & 322 deletions src/ontology/catalog-v001.xml
View file

Large diffs are not rendered by default.

36 changes: 34 additions & 2 deletions src/ontology/doid-edit.owl
View file
Expand Up @@ -10,14 +10,14 @@ Prefix(oboInOwl:=<http://www.geneontology.org/formats/oboInOwl#>)


Ontology(<http://purl.obolibrary.org/obo/doid.owl>
<http://purl.obolibrary.org/obo/doid/releases/2016-07-01/doid.owl>
<http://purl.obolibrary.org/obo/doid/releases/2016-07-08/doid.owl>
Import(<http://purl.obolibrary.org/obo/doid/obo/ext.owl>)
Annotation(oboInOwl:default-namespace "disease_ontology"^^xsd:string)
Annotation(oboInOwl:auto-generated-by "OBO-Edit 2.3.1"^^xsd:string)
Annotation(oboInOwl:date "01:07:2016 18:11"^^xsd:string)
Annotation(rdfs:comment "This work is licensed under a Creative Commons Attribution 3.0 Unported License http://creativecommons.org/licenses/by/3.0/."^^xsd:string)
Annotation(oboInOwl:saved-by "elvira"^^xsd:string)
Annotation(oboInOwl:hasOBOFormatVersion "1.2"^^xsd:string)
Annotation(oboInOwl:date "08:07:2016 14:00"^^xsd:string)

Declaration(Class(obo:DOID_0001816))
AnnotationAssertion(oboInOwl:id obo:DOID_0001816 "DOID:0001816"^^xsd:string)
Expand Down Expand Up @@ -15845,6 +15845,38 @@ AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060556 "MSH:C537177")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060556 "ICD10CM:G23.0")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060556 "UMLS_CUI:C1847640")
SubClassOf(obo:DOID_0060556 obo:DOID_14330)
Declaration(Class(obo:DOID_0060557))
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060557 "OMIM:615217")
AnnotationAssertion(rdfs:label obo:DOID_0060557 "ataxia with oculomotor apraxia type 3"@en)
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060557 "ataxia-oculomotor apraxia 3")
SubClassOf(obo:DOID_0060557 obo:DOID_0050950)
Declaration(Class(obo:DOID_0060558))
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060558 "ICD10CM:Q68.8")
AnnotationAssertion(rdfs:label obo:DOID_0060558 "lethal congenital contracture syndrome"@en)
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:22610851") obo:IAO_0000115 obo:DOID_0060558 "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth.")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060558 "ORDO:294965")
SubClassOf(obo:DOID_0060558 obo:DOID_225)
Declaration(Class(obo:DOID_0060559))
AnnotationAssertion(rdfs:label obo:DOID_0060559 "lethal congenital contracture syndrome 1"@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060559 "ORDO:1486")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060559 "multiple contracture syndrome, Finnish type")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060559 "OMIM:253310")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060559 "LCCS1")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060559 "ICD10CM:Q68.8")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060559 "UMLS_CUI:C1854664")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060559 "MSH:C537194")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:9683599") obo:IAO_0000115 obo:DOID_0060559 "A lethal congenital contracture syndrome caused by homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34, and has_material_basis_in autosomal recessive inheritance.")
SubClassOf(obo:DOID_0060559 obo:DOID_0060558)
Declaration(Class(obo:DOID_0060560))
AnnotationAssertion(rdfs:label obo:DOID_0060560 "lethal congenital contracture syndrome 2"@en)
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060560 "ORDO:137776")
AnnotationAssertion(Annotation(oboInOwl:hasDbXref "PMID:15378541") Annotation(oboInOwl:hasDbXref "PMID:17701904") obo:IAO_0000115 obo:DOID_0060560 "A lethal congenital contracture syndrome that can be caused by homozygous mutation in the ERBB3 gene on chromosome 12q13, and has_material_basis_in autosomal recessive inheritance.")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060560 "LCCS2")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060560 "ICD10CM:Q68.8")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060560 "MSH:C564369")
AnnotationAssertion(oboInOwl:hasDbXref obo:DOID_0060560 "OMIM:607598")
AnnotationAssertion(oboInOwl:hasExactSynonym obo:DOID_0060560 "multiple contracture syndrome, Israeli-Bedouin type")
SubClassOf(obo:DOID_0060560 obo:DOID_0060558)
Declaration(Class(obo:DOID_0070001))
AnnotationAssertion(oboInOwl:id obo:DOID_0070001 "DOID:0070001"^^xsd:string)
AnnotationAssertion(owl:deprecated obo:DOID_0070001 "true"^^xsd:boolean)
Expand Down
48 changes: 24 additions & 24 deletions src/ontology/doid-metadata.txt
View file
@@ -1,36 +1,36 @@
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=true 35665
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=true 33296
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=false 9330
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=false 6961
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 119159
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 47674
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=true 35669
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=true 33300
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=false 9335
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=false 6966
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 119183
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 47679
NUMBER_OF_AXIOMS.AXIOM_TYPE=DisjointClasses 0
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 1271
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 91688
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 8158
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 1272
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 91712
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 8163
NUMBER_OF_AXIOMS.AXIOM_TYPE=DisjointClasses 0
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 19
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasRelatedSynonym 'has_related_synonym' 0: 366 (0.052578654) 1+: 6595 (0.9474214) >1: 45 (0.0064645885)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=comment comment 0: 1005 (0.1443758) 1+: 5956 (0.8556242) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=created_by created_by 0: 762 (0.10946703) 1+: 6199 (0.890533) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=creation_date creation_date 0: 762 (0.10946703) 1+: 6199 (0.890533) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasNarrowSynonym 'has_narrow_synonym' 0: 6 (8.619451E-4) 1+: 6955 (0.99913806) >1: 2 (2.8731505E-4)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasAlternativeId 'has_alternative_id' 0: 669 (0.09610688) 1+: 6292 (0.9038931) >1: 250 (0.03591438)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=inSubset 'in_subset' 0: 1071 (0.1538572) 1+: 5890 (0.84614277) >1: 449 (0.064502224)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=IAO:0000115 'definition' 0: 2713 (0.38974285) 1+: 4248 (0.61025715) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasDbXref 'database_cross_reference' 0: 6339 (0.910645) 1+: 622 (0.08935498) >1: 5991 (0.8606522)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=id id 0: 6854 (0.9846286) 1+: 107 (0.015371354) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasOBONamespace 'has_obo_namespace' 0: 6816 (0.97916967) 1+: 145 (0.02083034) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasExactSynonym 'has_exact_synonym' 0: 4558 (0.654791) 1+: 2403 (0.34520903) >1: 2617 (0.37595174)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=label label 0: 6931 (0.9956903) 1+: 30 (0.0043097255) >1: 0 (0.0)
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 20
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasRelatedSynonym 'has_related_synonym' 0: 366 (0.052540913) 1+: 6600 (0.9474591) >1: 45 (0.006459948)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=comment comment 0: 1005 (0.14427218) 1+: 5961 (0.8557278) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=created_by created_by 0: 762 (0.109388456) 1+: 6204 (0.8906115) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=creation_date creation_date 0: 762 (0.109388456) 1+: 6204 (0.8906115) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasNarrowSynonym 'has_narrow_synonym' 0: 6 (8.6132647E-4) 1+: 6960 (0.99913865) >1: 2 (2.8710882E-4)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasAlternativeId 'has_alternative_id' 0: 669 (0.0960379) 1+: 6297 (0.9039621) >1: 250 (0.0358886)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=inSubset 'in_subset' 0: 1071 (0.15374677) 1+: 5895 (0.8462532) >1: 449 (0.06445593)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=IAO:0000115 'definition' 0: 2716 (0.38989377) 1+: 4250 (0.6101062) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasDbXref 'database_cross_reference' 0: 6343 (0.9105656) 1+: 623 (0.08943439) >1: 5994 (0.8604651)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=id id 0: 6854 (0.9839219) 1+: 112 (0.016078094) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasOBONamespace 'has_obo_namespace' 0: 6816 (0.97846687) 1+: 150 (0.021533161) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasExactSynonym 'has_exact_synonym' 0: 4561 (0.65475166) 1+: 2405 (0.34524834) >1: 2619 (0.375969)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=label label 0: 6935 (0.9955498) 1+: 31 (0.0044501866) >1: 0 (0.0)
AXIOM_TYPE Declaration SubClassOf EquivalentClasses
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=results_in_formation_of 'results_in_formation_of' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=transmitted_by 'transmitted_by' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=realized_by 'realized_by' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=located_in 'located_in' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=complicated_by 'complicated_by' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=occurs_with 'occurs_with' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=RO:0001025 'located in' 0 13 14
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=RO:0001025 'located in' 0 14 15
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=part_of 'part_of' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=results_in 'results_in' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=has_symptom 'has_symptom' 1 0 0
Expand Down
48 changes: 24 additions & 24 deletions src/ontology/doid-non-classified-metadata.txt
View file
@@ -1,36 +1,36 @@
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=true 35665
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=true 33296
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=false 9330
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=false 6961
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 119159
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 46673
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=true 35669
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=true 33300
NUMBER_OF_CLASSES.INCLUDE_IMPORT_CLOSURE=false 9335
NUMBER_OF_NON_DEPRECATED_CLASSES.INCLUDE_IMPORT_CLOSURE=false 6966
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 119183
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 46677
NUMBER_OF_AXIOMS.AXIOM_TYPE=DisjointClasses 0
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 1271
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 91688
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 7157
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 1272
NUMBER_OF_AXIOMS.AXIOM_TYPE=AnnotationAssertion 91712
NUMBER_OF_AXIOMS.AXIOM_TYPE=SubClassOf 7161
NUMBER_OF_AXIOMS.AXIOM_TYPE=DisjointClasses 0
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 19
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasRelatedSynonym 'has_related_synonym' 0: 366 (0.052578654) 1+: 6595 (0.9474214) >1: 45 (0.0064645885)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=comment comment 0: 1005 (0.1443758) 1+: 5956 (0.8556242) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=created_by created_by 0: 762 (0.10946703) 1+: 6199 (0.890533) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=creation_date creation_date 0: 762 (0.10946703) 1+: 6199 (0.890533) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasNarrowSynonym 'has_narrow_synonym' 0: 6 (8.619451E-4) 1+: 6955 (0.99913806) >1: 2 (2.8731505E-4)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasAlternativeId 'has_alternative_id' 0: 669 (0.09610688) 1+: 6292 (0.9038931) >1: 250 (0.03591438)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=inSubset 'in_subset' 0: 1071 (0.1538572) 1+: 5890 (0.84614277) >1: 449 (0.064502224)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=IAO:0000115 'definition' 0: 2713 (0.38974285) 1+: 4248 (0.61025715) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasDbXref 'database_cross_reference' 0: 6339 (0.910645) 1+: 622 (0.08935498) >1: 5991 (0.8606522)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=id id 0: 6854 (0.9846286) 1+: 107 (0.015371354) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasOBONamespace 'has_obo_namespace' 0: 6816 (0.97916967) 1+: 145 (0.02083034) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasExactSynonym 'has_exact_synonym' 0: 4558 (0.654791) 1+: 2403 (0.34520903) >1: 2617 (0.37595174)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=label label 0: 6931 (0.9956903) 1+: 30 (0.0043097255) >1: 0 (0.0)
NUMBER_OF_AXIOMS.AXIOM_TYPE=EquivalentClasses 20
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasRelatedSynonym 'has_related_synonym' 0: 366 (0.052540913) 1+: 6600 (0.9474591) >1: 45 (0.006459948)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=comment comment 0: 1005 (0.14427218) 1+: 5961 (0.8557278) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=created_by created_by 0: 762 (0.109388456) 1+: 6204 (0.8906115) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=creation_date creation_date 0: 762 (0.109388456) 1+: 6204 (0.8906115) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasNarrowSynonym 'has_narrow_synonym' 0: 6 (8.6132647E-4) 1+: 6960 (0.99913865) >1: 2 (2.8710882E-4)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasAlternativeId 'has_alternative_id' 0: 669 (0.0960379) 1+: 6297 (0.9039621) >1: 250 (0.0358886)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=inSubset 'in_subset' 0: 1071 (0.15374677) 1+: 5895 (0.8462532) >1: 449 (0.06445593)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=IAO:0000115 'definition' 0: 2716 (0.38989377) 1+: 4250 (0.6101062) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasDbXref 'database_cross_reference' 0: 6343 (0.9105656) 1+: 623 (0.08943439) >1: 5994 (0.8604651)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=id id 0: 6854 (0.9839219) 1+: 112 (0.016078094) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasOBONamespace 'has_obo_namespace' 0: 6816 (0.97846687) 1+: 150 (0.021533161) >1: 0 (0.0)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=hasExactSynonym 'has_exact_synonym' 0: 4561 (0.65475166) 1+: 2405 (0.34524834) >1: 2619 (0.375969)
NUMBER_OF_NON_DEPRECATED_CLASSES.ANNOTATION_PROPERTY=label label 0: 6935 (0.9955498) 1+: 31 (0.0044501866) >1: 0 (0.0)
AXIOM_TYPE Declaration SubClassOf EquivalentClasses
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=results_in_formation_of 'results_in_formation_of' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=transmitted_by 'transmitted_by' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=realized_by 'realized_by' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=located_in 'located_in' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=complicated_by 'complicated_by' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=occurs_with 'occurs_with' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=RO:0001025 'located in' 0 1 14
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=RO:0001025 'located in' 0 1 15
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=part_of 'part_of' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=results_in 'results_in' 1 0 0
NUMBER_OF_AXIOMS.OBJECT_PROPERTY=has_symptom 'has_symptom' 1 0 0
Expand Down
46 changes: 44 additions & 2 deletions src/ontology/doid-non-classified.obo
View file
@@ -1,6 +1,6 @@
format-version: 1.2
data-version: releases/2016-07-01
date: 01:07:2016 18:11
data-version: releases/2016-07-08
date: 08:07:2016 14:00
saved-by: elvira
auto-generated-by: OBO-Edit 2.3.1
subsetdef: DO_cancer_slim "DO cancer slim"
Expand Down Expand Up @@ -15895,6 +15895,46 @@ xref: ORDO:306674
xref: UMLS_CUI:C1847640
is_a: DOID:14330 ! Parkinson's disease

[Term]
id: DOID:0060557
name: ataxia with oculomotor apraxia type 3
synonym: "ataxia-oculomotor apraxia 3" EXACT []
xref: OMIM:615217
is_a: DOID:0050950 ! autosomal recessive cerebellar ataxia

[Term]
id: DOID:0060558
name: lethal congenital contracture syndrome
def: "A syndrome characterized by congenital nonprogressive joint contractures. The contractures can involve the upper or lower limbs and/or the vertebral column, leading to various degrees of flexion or extension limitations evident at birth." [PMID:22610851]
xref: ICD10CM:Q68.8
xref: ORDO:294965
is_a: DOID:225 ! syndrome

[Term]
id: DOID:0060559
name: lethal congenital contracture syndrome 1
def: "A lethal congenital contracture syndrome caused by homozygous or compound heterozygous mutation in the mRNA export mediator GLE1 on chromosome 9q34, and has_material_basis_in autosomal recessive inheritance." [PMID:9683599]
synonym: "LCCS1" EXACT []
synonym: "multiple contracture syndrome, Finnish type" EXACT []
xref: ICD10CM:Q68.8
xref: MSH:C537194
xref: OMIM:253310
xref: ORDO:1486
xref: UMLS_CUI:C1854664
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:0060560
name: lethal congenital contracture syndrome 2
def: "A lethal congenital contracture syndrome that can be caused by homozygous mutation in the ERBB3 gene on chromosome 12q13, and has_material_basis_in autosomal recessive inheritance." [PMID:15378541, PMID:17701904]
synonym: "LCCS2" EXACT []
synonym: "multiple contracture syndrome, Israeli-Bedouin type" EXACT []
xref: ICD10CM:Q68.8
xref: MSH:C564369
xref: OMIM:607598
xref: ORDO:137776
is_a: DOID:0060558 ! lethal congenital contracture syndrome

[Term]
id: DOID:0070001
name: neoplastic disease
Expand Down Expand Up @@ -108261,6 +108301,8 @@ xref: SNOMEDCT_US_2015_03_01:16253001
xref: UMLS_CUI:C0877208
is_a: DOID:12930 ! dilated cardiomyopathy



[Typedef]
id: complicated_by
name: complicated_by
Expand Down

0 comments on commit 75a18c7

Please sign in to comment.