From 2133f8b16736508eaaec6be7d4af891e3e8f4aa6 Mon Sep 17 00:00:00 2001 From: Trish Whetzel Date: Mon, 25 Nov 2024 05:59:00 -0800 Subject: [PATCH] refresh imports from 24Nov2024 (#8438) --- src/ontology/imports/hgnc_terms.txt | 3 + src/ontology/imports/manual_seed.txt | 7 + src/ontology/imports/merged_import.owl | 867 +++++++++++++----- src/ontology/mondo-edit.obo | 112 +-- .../construct/construct-ncbigene.sparql | 1 + 5 files changed, 690 insertions(+), 300 deletions(-) diff --git a/src/ontology/imports/hgnc_terms.txt b/src/ontology/imports/hgnc_terms.txt index 01ce75ddf5..50add59286 100644 --- a/src/ontology/imports/hgnc_terms.txt +++ b/src/ontology/imports/hgnc_terms.txt @@ -895,6 +895,7 @@ http://identifiers.org/hgnc/15974 http://identifiers.org/hgnc/15977 http://identifiers.org/hgnc/15979 http://identifiers.org/hgnc/15984 +http://identifiers.org/hgnc/15992 http://identifiers.org/hgnc/15993 http://identifiers.org/hgnc/15999 http://identifiers.org/hgnc/160 @@ -1606,6 +1607,7 @@ http://identifiers.org/hgnc/2227 http://identifiers.org/hgnc/2228 http://identifiers.org/hgnc/2230 http://identifiers.org/hgnc/2235 +http://identifiers.org/hgnc/2236 http://identifiers.org/hgnc/2244 http://identifiers.org/hgnc/22448 http://identifiers.org/hgnc/225 @@ -3237,6 +3239,7 @@ http://identifiers.org/hgnc/6909 http://identifiers.org/hgnc/691 http://identifiers.org/hgnc/6912 http://identifiers.org/hgnc/6913 +http://identifiers.org/hgnc/6919 http://identifiers.org/hgnc/6922 http://identifiers.org/hgnc/6929 http://identifiers.org/hgnc/6930 diff --git a/src/ontology/imports/manual_seed.txt b/src/ontology/imports/manual_seed.txt index 618866f214..d7fbedfcb8 100644 --- a/src/ontology/imports/manual_seed.txt +++ b/src/ontology/imports/manual_seed.txt @@ -201,3 +201,10 @@ http://identifiers.org/ncbigene/100127354 http://identifiers.org/hgnc/2088 http://identifiers.org/ncbigene/101150212 http://identifiers.org/ncbigene/488381 +http://identifiers.org/ncbigene/100127354 +http://identifiers.org/hgnc/2088 +http://identifiers.org/ncbigene/101150212 +http://identifiers.org/ncbigene/2236 +http://identifiers.org/hgnc/2236 +http://identifiers.org/hgnc/6919 +http://identifiers.org/hgnc/15992 \ No newline at end of file diff --git a/src/ontology/imports/merged_import.owl b/src/ontology/imports/merged_import.owl index 442900259c..c869ce4432 100644 --- a/src/ontology/imports/merged_import.owl +++ b/src/ontology/imports/merged_import.owl @@ -7,7 +7,7 @@ Prefix(rdfs:=) Ontology( - + Annotation( ) Annotation( ) Annotation( ) @@ -67,7 +67,7 @@ Annotation( "PMID:16417468 Forgotten and Annotation( "aggregates AAO from 13:04:2012") Annotation( "aggregates TAO from 09:08:2012") Annotation( "aggregates VSAO from 16:07:2012") -Annotation(owl:versionInfo "2024-10-23") +Annotation(owl:versionInfo "2024-11-25") Declaration(Class()) Declaration(Class()) @@ -964,6 +964,7 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -1674,6 +1675,7 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -3304,6 +3306,7 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -3949,15 +3952,26 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -3981,24 +3995,39 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -4011,6 +4040,7 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -4019,16 +4049,28 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -4038,10 +4080,13 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -4049,9 +4094,12 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -4061,16 +4109,21 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -4085,6 +4138,8 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -18487,7 +18542,6 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) -Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -18922,6 +18976,8 @@ Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) +Declaration(Class()) +Declaration(Class()) Declaration(Class()) Declaration(Class()) Declaration(Class()) @@ -28643,9 +28699,9 @@ SubClassOf( "TBXT") SubClassOf( ) -# Class: (BVES) +# Class: (POPDC1) -AnnotationAssertion(rdfs:label "BVES") +AnnotationAssertion(rdfs:label "POPDC1") SubClassOf( ) # Class: (TAC3) @@ -31513,6 +31569,11 @@ SubClassOf( "APTX") SubClassOf( ) +# Class: (ZNF341) + +AnnotationAssertion(rdfs:label "ZNF341") +SubClassOf( ) + # Class: (CHST8) AnnotationAssertion(rdfs:label "CHST8") @@ -35063,6 +35124,11 @@ SubClassOf( "KLF6") SubClassOf( ) +# Class: (COPG1) + +AnnotationAssertion(rdfs:label "COPG1") +SubClassOf( ) + # Class: (COQ7) AnnotationAssertion(rdfs:label "COQ7") @@ -43213,6 +43279,11 @@ SubClassOf( "MAX") SubClassOf( ) +# Class: (MBD4) + +AnnotationAssertion(rdfs:label "MBD4") +SubClassOf( ) + # Class: (MBL2) AnnotationAssertion(rdfs:label "MBL2") @@ -46449,6 +46520,12 @@ AnnotationAssertion(rdfs:label "SGCD SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (CPAMD8) + +AnnotationAssertion(rdfs:label "CPAMD8") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (GRHPR) AnnotationAssertion(rdfs:label "GRHPR") @@ -46461,12 +46538,60 @@ AnnotationAssertion(rdfs:label "DMP1 SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (RORB) + +AnnotationAssertion(rdfs:label "RORB") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (FAH) AnnotationAssertion(rdfs:label "FAH") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (ATXN3) + +AnnotationAssertion(rdfs:label "ATXN3") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (PSEN1) + +AnnotationAssertion(rdfs:label "PSEN1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (APP) + +AnnotationAssertion(rdfs:label "APP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (TARDBP) + +AnnotationAssertion(rdfs:label "TARDBP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (APP) + +AnnotationAssertion(rdfs:label "APP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (MIP) + +AnnotationAssertion(rdfs:label "MIP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (KIF21A) + +AnnotationAssertion(rdfs:label "KIF21A") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (NF1) AnnotationAssertion(rdfs:label "NF1") @@ -46491,6 +46616,12 @@ AnnotationAssertion(rdfs:label "GUCY SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SORL1) + +AnnotationAssertion(rdfs:label "SORL1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (TNXB) AnnotationAssertion(rdfs:label "TNXB") @@ -46503,6 +46634,12 @@ AnnotationAssertion(rdfs:label "PCAR SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (TARDBP) + +AnnotationAssertion(rdfs:label "TARDBP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (CYP27B1) AnnotationAssertion(rdfs:label "CYP27B1") @@ -46641,24 +46778,66 @@ AnnotationAssertion(rdfs:label "Il2r SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (Tp53) + +AnnotationAssertion(rdfs:label "Tp53") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (Sgcd) AnnotationAssertion(rdfs:label "Sgcd") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (APP) + +AnnotationAssertion(rdfs:label "APP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (TARDBP) + +AnnotationAssertion(rdfs:label "TARDBP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (TP53) + +AnnotationAssertion(rdfs:label "TP53") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (PSEN1) + +AnnotationAssertion(rdfs:label "PSEN1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (oca2) AnnotationAssertion(rdfs:label "oca2") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (FAM83H) + +AnnotationAssertion(rdfs:label "FAM83H") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (SLC45A2) AnnotationAssertion(rdfs:label "SLC45A2") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (VMP1) + +AnnotationAssertion(rdfs:label "VMP1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (GAA) AnnotationAssertion(rdfs:label "GAA") @@ -46689,12 +46868,24 @@ AnnotationAssertion(rdfs:label "ITGB2") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (MOCS1) + +AnnotationAssertion(rdfs:label "MOCS1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (BCKDHA) AnnotationAssertion(rdfs:label "BCKDHA") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (CHRNB1) + +AnnotationAssertion(rdfs:label "CHRNB1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (ADAMTS2) AnnotationAssertion(rdfs:label "ADAMTS2") @@ -46713,6 +46904,12 @@ AnnotationAssertion(rdfs:label "PYGM") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SOD1) + +AnnotationAssertion(rdfs:label "SOD1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (CYP27B1) AnnotationAssertion(rdfs:label "CYP27B1") @@ -46731,6 +46928,18 @@ AnnotationAssertion(rdfs:label "IL2RG") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (TP53) + +AnnotationAssertion(rdfs:label "TP53") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (COL2A1) + +AnnotationAssertion(rdfs:label "COL2A1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (MC4R) AnnotationAssertion(rdfs:label "MC4R") @@ -46743,12 +46952,30 @@ AnnotationAssertion(rdfs:label "RAG1") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (APP) + +AnnotationAssertion(rdfs:label "APP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (PDE6B) AnnotationAssertion(rdfs:label "PDE6B") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (RUNX3) + +AnnotationAssertion(rdfs:label "RUNX3") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (APP) + +AnnotationAssertion(rdfs:label "APP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (G6PC1) AnnotationAssertion(rdfs:label "G6PC1") @@ -46821,6 +47048,12 @@ AnnotationAssertion(rdfs:label "GLB1") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (COL2A1) + +AnnotationAssertion(rdfs:label "COL2A1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (PLN) AnnotationAssertion(rdfs:label "PLN") @@ -46869,6 +47102,18 @@ AnnotationAssertion(rdfs:label "CYB5R3" SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SNX14) + +AnnotationAssertion(rdfs:label "SNX14") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (HACE1) + +AnnotationAssertion(rdfs:label "HACE1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (PPT1) AnnotationAssertion(rdfs:label "PPT1") @@ -46893,6 +47138,30 @@ AnnotationAssertion(rdfs:label "LOC4761 SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (VLDLR) + +AnnotationAssertion(rdfs:label "VLDLR") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (ITPR1) + +AnnotationAssertion(rdfs:label "ITPR1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (FYCO1) + +AnnotationAssertion(rdfs:label "FYCO1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (SCN8A) + +AnnotationAssertion(rdfs:label "SCN8A") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (HEXB) AnnotationAssertion(rdfs:label "HEXB") @@ -46905,18 +47174,48 @@ AnnotationAssertion(rdfs:label "BBS2") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SLC12A6) + +AnnotationAssertion(rdfs:label "SLC12A6") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (IQCB1) AnnotationAssertion(rdfs:label "IQCB1") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SLC25A12) + +AnnotationAssertion(rdfs:label "SLC25A12") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (COL5A2) AnnotationAssertion(rdfs:label "COL5A2") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (KCNIP4) + +AnnotationAssertion(rdfs:label "KCNIP4") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (RAB24) + +AnnotationAssertion(rdfs:label "RAB24") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (SELENOP) + +AnnotationAssertion(rdfs:label "SELENOP") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (RETREG1) AnnotationAssertion(rdfs:label "RETREG1") @@ -46929,6 +47228,12 @@ AnnotationAssertion(rdfs:label "AGL") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SEL1L) + +AnnotationAssertion(rdfs:label "SEL1L") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (TTC8) AnnotationAssertion(rdfs:label "TTC8") @@ -46983,6 +47288,12 @@ AnnotationAssertion(rdfs:label "CTSD") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (SPTBN2) + +AnnotationAssertion(rdfs:label "SPTBN2") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (CAPN1) AnnotationAssertion(rdfs:label "CAPN1") @@ -46995,6 +47306,12 @@ AnnotationAssertion(rdfs:label "FERMT3" SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (BIN1) + +AnnotationAssertion(rdfs:label "BIN1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (ACP4) AnnotationAssertion(rdfs:label "ACP4") @@ -47007,6 +47324,12 @@ AnnotationAssertion(rdfs:label "SLC5A5" SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (DNM2) + +AnnotationAssertion(rdfs:label "DNM2") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (SERPINH1) AnnotationAssertion(rdfs:label "SERPINH1") @@ -47049,12 +47372,24 @@ AnnotationAssertion(rdfs:label "CLN8") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (KCNJ10) + +AnnotationAssertion(rdfs:label "KCNJ10") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (OCA2) AnnotationAssertion(rdfs:label "OCA2") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (LGI2) + +AnnotationAssertion(rdfs:label "LGI2") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (NIPAL4) AnnotationAssertion(rdfs:label "NIPAL4") @@ -47067,6 +47402,12 @@ AnnotationAssertion(rdfs:label "SLC45A2 SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (ATP1B2) + +AnnotationAssertion(rdfs:label "ATP1B2") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (HSF4) AnnotationAssertion(rdfs:label "HSF4") @@ -47121,6 +47462,18 @@ AnnotationAssertion(rdfs:label "CLN6") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (ADAMTSL4) + +AnnotationAssertion(rdfs:label "ADAMTSL4") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (SUOX) + +AnnotationAssertion(rdfs:label "SUOX") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (MYBPC1) AnnotationAssertion(rdfs:label "MYBPC1") @@ -47151,6 +47504,12 @@ AnnotationAssertion(rdfs:label "IL17RA" SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (AGRN) + +AnnotationAssertion(rdfs:label "AGRN") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (CLN5) AnnotationAssertion(rdfs:label "CLN5") @@ -47163,6 +47522,12 @@ AnnotationAssertion(rdfs:label "CHD7") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (NID1) + +AnnotationAssertion(rdfs:label "NID1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (COL5A2) AnnotationAssertion(rdfs:label "COL5A2") @@ -47181,6 +47546,12 @@ AnnotationAssertion(rdfs:label "FGFR3") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (HACD1) + +AnnotationAssertion(rdfs:label "HACD1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (MLPH) AnnotationAssertion(rdfs:label "MLPH") @@ -47265,6 +47636,18 @@ AnnotationAssertion(rdfs:label "BBS7") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +# Class: (PSEN1) + +AnnotationAssertion(rdfs:label "PSEN1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + +# Class: (TWIST1) + +AnnotationAssertion(rdfs:label "TWIST1") +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) + # Class: (entity) AnnotationAssertion( "BFO 2 Reference: In all areas of empirical inquiry we encounter general terms of two sorts. First are general terms which refer to universals or types:animaltuberculosissurgical procedurediseaseSecond, are general terms used to refer to groups of entities which instantiate a given universal but do not correspond to the extension of any subuniversal of that universal because there is nothing intrinsic to the entities in question by virtue of which they – and only they – are counted as belonging to the given group. Examples are: animal purchased by the Emperortuberculosis diagnosed on a Wednesdaysurgical procedure performed on a patient from Stockholmperson identified as candidate for clinical trial #2056-555person who is signatory of Form 656-PPVpainting by Leonardo da VinciSuch terms, which represent what are called ‘specializations’ in [81"@en) @@ -47544,10 +47927,10 @@ SubClassOf( ObjectSomeValuesFrom( (alpha-hydroxy ketone) -AnnotationAssertion( "An alpha-oxyketone that has a hydroxy group as the alpha-oxy moiety.") +AnnotationAssertion( "A ketone containing a hydroxy group on the alpha-carbon relative to the C=O group.") AnnotationAssertion(rdfs:label "alpha-hydroxy ketone") -SubClassOf( ) -SubClassOf( ) +SubClassOf( ) +SubClassOf( ) # Class: (retinoid anion) @@ -48100,7 +48483,7 @@ AnnotationAssertion(rdfs:label "6-a SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) -SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) # Class: (pyridoxine) @@ -48857,7 +49240,7 @@ SubClassOf( ObjectSomeValuesFrom( (NMR chemical shift reference compound) -AnnotationAssertion( "Any compound that produces a peak used to reference an NMR spectrum during data pre-processing.") +AnnotationAssertion( "Any compound that produces a peak used as reference frequency in the delta chemical shift scale.") AnnotationAssertion(rdfs:label "NMR chemical shift reference compound") SubClassOf( ) SubClassOf( ) @@ -50174,8 +50557,7 @@ SubClassOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) -SubClassOf( ObjectSomeValuesFrom( )) -SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (beta-lactam antibiotic) @@ -50670,7 +51052,7 @@ SubClassOf( "6-aminopenicillanate") SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) # Class: (4,4'-bipyridine) @@ -51959,10 +52341,10 @@ AnnotationAssertion( "fossil fuel") SubClassOf( ) -# Class: (amino acid zwitterion) +# Class: (amino-acid zwitterion) AnnotationAssertion( "The zwitterionic form of an amino acid having a negatively charged carboxyl group and a positively charged amino group.") -AnnotationAssertion(rdfs:label "amino acid zwitterion") +AnnotationAssertion(rdfs:label "amino-acid zwitterion") SubClassOf( ) # Class: (quaternary ammonium ion) @@ -54112,7 +54494,7 @@ AnnotationAssertion(rdfs:label "rol # Class: (hepatotoxic agent) -AnnotationAssertion( "A role played by a chemical compound exihibiting itself through the ability to induce damage to the liver in animals.") +AnnotationAssertion( "A role played by a chemical compound exhibiting itself through the ability to induce damage to the liver in animals.") AnnotationAssertion(rdfs:label "hepatotoxic agent") SubClassOf( ) @@ -55154,10 +55536,9 @@ SubClassOf( (tetracycline(1-)) -AnnotationAssertion( "An organic anion that is the conjugate base of tetracycline obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group.") +AnnotationAssertion( "An organic anion that is the conjugate base of tetracycline zwitterion obtained by deprotonation of the two enolic hydroxy groups and protonation of the tertiary amino group.") AnnotationAssertion(rdfs:label "tetracycline(1-)") SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) # Class: (organic molecule) @@ -55570,7 +55951,7 @@ SubClassOf( ObjectSomeValuesFrom( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) -SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (barbiturate(1-)) @@ -55647,10 +56028,10 @@ AnnotationAssertion( "venom") SubClassOf( ) -# Class: (alpha-amino acid zwitterion) +# Class: (alpha-amino-acid zwitterion) -AnnotationAssertion( "An amino acid zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3.") -AnnotationAssertion(rdfs:label "alpha-amino acid zwitterion") +AnnotationAssertion( "An amino acid-zwitterion obtained by transfer of a proton from the carboxy to the amino group of any alpha-amino acid; major species at pH 7.3.") +AnnotationAssertion(rdfs:label "alpha-amino-acid zwitterion") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -55776,10 +56157,10 @@ AnnotationAssertion( "non-proteinogenic amino acid") SubClassOf( ) -# Class: (amino acid derivative) +# Class: (amino-acid derivative) AnnotationAssertion( "Any derivative of an amino acid resulting from reaction at an amino group, carboxy group, side-chain functional group, or from the replacement of any hydrogen by a heteroatom. The definition normally excludes peptides containing amino acid residues.") -AnnotationAssertion(rdfs:label "amino acid derivative") +AnnotationAssertion(rdfs:label "amino-acid derivative") SubClassOf( ) # Class: (non-proteinogenic L-alpha-amino acid) @@ -73908,6 +74289,7 @@ SubClassOf( "regulation of glutamine family amino acid metabolic process") SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (cell morphogenesis) @@ -74112,6 +74494,7 @@ SubClassOf( "ATPase activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (acrosome assembly) @@ -74386,7 +74769,7 @@ SubClassOf( ObjectSomeValuesFrom( (selenium compound metabolic process) AnnotationAssertion(rdfs:label "selenium compound metabolic process") -SubClassOf( ) +SubClassOf( ) # Class: (tissue homeostasis) @@ -76436,23 +76819,27 @@ SubClassOf( "enzyme inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (protein kinase inhibitor activity) AnnotationAssertion(rdfs:label "protein kinase inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (endopeptidase inhibitor activity) AnnotationAssertion(rdfs:label "endopeptidase inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (serine-type endopeptidase inhibitor activity) AnnotationAssertion(rdfs:label "serine-type endopeptidase inhibitor activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (obsolete signal transducer activity) @@ -76576,6 +76963,7 @@ SubClassOf( "calcium channel regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (monoatomic cation channel activity) @@ -77105,7 +77493,6 @@ AnnotationAssertion(owl:deprecated " # Class: (organic acid metabolic process) AnnotationAssertion(rdfs:label "organic acid metabolic process") -SubClassOf( ) SubClassOf( ) # Class: (pyruvate metabolic process) @@ -77116,7 +77503,7 @@ SubClassOf( (generation of precursor metabolites and energy) AnnotationAssertion(rdfs:label "generation of precursor metabolites and energy") -SubClassOf( ) +SubClassOf( ) # Class: (gluconeogenesis) @@ -77137,6 +77524,7 @@ SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) # Class: (tricarboxylic acid cycle) @@ -77330,13 +77718,16 @@ AnnotationAssertion(rdfs:label "tran SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (translational initiation) AnnotationAssertion(rdfs:label "translational initiation") -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (translational elongation) @@ -77453,11 +77844,9 @@ SubClassOf( "amino acid metabolic process") SubClassOf( ) -# Class: (regulation of cellular amino acid metabolic process) +# Class: (regulation of amino acid metabolic process) -AnnotationAssertion(rdfs:label "regulation of cellular amino acid metabolic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion(rdfs:label "regulation of amino acid metabolic process") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -77539,10 +77928,10 @@ AnnotationAssertion(rdfs:label "vali SubClassOf( ) SubClassOf( ) -# Class: (cellular modified amino acid metabolic process) +# Class: (modified amino acid metabolic process) -AnnotationAssertion(rdfs:label "cellular modified amino acid metabolic process") -SubClassOf( ) +AnnotationAssertion(rdfs:label "modified amino acid metabolic process") +SubClassOf( ) # Class: (biogenic amine metabolic process) @@ -77604,8 +77993,8 @@ SubClassOf( (fatty acid metabolic process) AnnotationAssertion(rdfs:label "fatty acid metabolic process") +SubClassOf( ) SubClassOf( ) -SubClassOf( ) # Class: (fatty acid biosynthetic process) @@ -77617,14 +78006,15 @@ SubClassOf( (membrane lipid metabolic process) AnnotationAssertion(rdfs:label "membrane lipid metabolic process") -SubClassOf( ) +SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (phospholipid metabolic process) AnnotationAssertion(rdfs:label "phospholipid metabolic process") +SubClassOf( ) SubClassOf( ) SubClassOf( ) -SubClassOf( ) # Class: (glycerophospholipid metabolic process) @@ -77704,7 +78094,7 @@ SubClassOf( (isoprenoid metabolic process) AnnotationAssertion(rdfs:label "isoprenoid metabolic process") -SubClassOf( ) +SubClassOf( ) # Class: (terpenoid metabolic process) @@ -77816,12 +78206,12 @@ SubClassOf( (sulfur compound metabolic process) AnnotationAssertion(rdfs:label "sulfur compound metabolic process") -SubClassOf( ) +SubClassOf( ) # Class: (phosphorus metabolic process) AnnotationAssertion(rdfs:label "phosphorus metabolic process") -SubClassOf( ) +SubClassOf( ) # Class: (phosphate-containing compound metabolic process) @@ -78036,6 +78426,8 @@ SubClassOf( ObjectSomeValuesFrom( "apoptotic process") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (cellular component disassembly involved in execution phase of apoptosis) @@ -78296,6 +78688,7 @@ SubClassOf( "glutamate receptor signaling pathway") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (canonical NF-kappaB signal transduction) @@ -78696,6 +79089,7 @@ SubClassOf( ObjectSomeValuesFrom( "enzyme activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (glutamate receptor activity) @@ -78732,7 +79126,7 @@ AnnotationAssertion(rdfs:label "biol # Class: (metabolic process) AnnotationAssertion(rdfs:label "metabolic process") -SubClassOf( ) +SubClassOf( ) DisjointClasses( ) DisjointClasses( ) @@ -78752,6 +79146,7 @@ AnnotationAssertion(rdfs:label "ion SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (steroid metabolic process) @@ -78780,7 +79175,6 @@ SubClassOf( "mineralocorticoid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) # Class: (regulation of blood pressure) @@ -78973,6 +79367,7 @@ SubClassOf( ObjectSomeValuesFrom( "phosphorylase kinase regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (lipid biosynthetic process) @@ -78983,9 +79378,9 @@ SubClassOf( (ether lipid biosynthetic process) AnnotationAssertion(rdfs:label "ether lipid biosynthetic process") +SubClassOf( ) SubClassOf( ) SubClassOf( ) -SubClassOf( ) # Class: (pyridoxine metabolic process) @@ -79040,8 +79435,8 @@ SubClassOf( (macromolecule biosynthetic process) AnnotationAssertion(rdfs:label "macromolecule biosynthetic process") +SubClassOf( ) SubClassOf( ) -SubClassOf( ) # Class: (aerobic respiration) @@ -79152,7 +79547,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "vitamin biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) # Class: (nucleobase metabolic process) @@ -79613,14 +80007,14 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of metabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of metabolic process) AnnotationAssertion(rdfs:label "positive regulation of metabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of catabolic process) @@ -79816,7 +80210,6 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of phosphatidylinositol biosynthetic process) AnnotationAssertion(rdfs:label "regulation of phosphatidylinositol biosynthetic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -79824,7 +80217,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of phosphatidylinositol biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -79832,31 +80224,30 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of phosphatidylinositol biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of macromolecule biosynthetic process) AnnotationAssertion(rdfs:label "regulation of macromolecule biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of macromolecule biosynthetic process) AnnotationAssertion(rdfs:label "positive regulation of macromolecule biosynthetic process") +SubClassOf( ) SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of macromolecule biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of macromolecule biosynthetic process") +SubClassOf( ) SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of glycoprotein biosynthetic process) @@ -79885,14 +80276,14 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of phosphorus metabolic process) AnnotationAssertion(rdfs:label "positive regulation of phosphorus metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of phosphorus metabolic process) AnnotationAssertion(rdfs:label "negative regulation of phosphorus metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -79902,18 +80293,18 @@ AnnotationAssertion(rdfs:label "regu SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (regulation of cellular ketone metabolic process) +# Class: (regulation of ketone metabolic process) -AnnotationAssertion(rdfs:label "regulation of cellular ketone metabolic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion(rdfs:label "regulation of ketone metabolic process") +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of ketone biosynthetic process) AnnotationAssertion(rdfs:label "regulation of ketone biosynthetic process") +SubClassOf( ) SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of macromolecule metabolic process) @@ -80318,7 +80709,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of vitamin D biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -80392,6 +80782,7 @@ SubClassOf( ObjectSomeValuesFrom( "programmed cell death") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (endomembrane system) @@ -81145,7 +81536,6 @@ SubClassOf( "organic acid biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) # Class: (organic acid catabolic process) @@ -81249,12 +81639,14 @@ SubClassOf( "channel regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (channel inhibitor activity) AnnotationAssertion(rdfs:label "channel inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (N-sulfoglucosamine sulfohydrolase activity) @@ -81384,6 +81776,7 @@ SubClassOf( "peptidase activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (peptidase activator activity involved in apoptotic process) @@ -81825,36 +82218,42 @@ SubClassOf( "kinase regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (phosphatase regulator activity) AnnotationAssertion(rdfs:label "phosphatase regulator activity") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (kinase activator activity) AnnotationAssertion(rdfs:label "kinase activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (kinase inhibitor activity) AnnotationAssertion(rdfs:label "kinase inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (phosphatase activator activity) AnnotationAssertion(rdfs:label "phosphatase activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (phosphatase inhibitor activity) AnnotationAssertion(rdfs:label "phosphatase inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of lipid metabolic process) @@ -81867,6 +82266,7 @@ SubClassOf( ObjectSomeValuesFrom( "regulation of fatty acid metabolic process") SubClassOf( ) SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of steroid metabolic process) @@ -81896,7 +82296,7 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of metabolic process) AnnotationAssertion(rdfs:label "regulation of metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (transmission of nerve impulse) @@ -82042,7 +82442,6 @@ SubClassOf( "regulation of isoprenoid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (polyol metabolic process) @@ -82098,6 +82497,7 @@ SubClassOf( "calcium channel inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (organelle inner membrane) @@ -82115,6 +82515,7 @@ SubClassOf( "protein kinase regulator activity") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (pteridine metabolic process) @@ -82705,6 +83106,7 @@ SubClassOf( "enzyme regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (growth hormone secretion) @@ -82714,7 +83116,7 @@ SubClassOf( (lipid modification) AnnotationAssertion(rdfs:label "lipid modification") -SubClassOf( ) +SubClassOf( ) # Class: (chromosome condensation) @@ -82761,12 +83163,14 @@ SubClassOf( "protein serine/threonine kinase inhibitor activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (protein kinase activator activity) AnnotationAssertion(rdfs:label "protein kinase activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (external encapsulating structure) @@ -82817,6 +83221,7 @@ SubClassOf( ObjectSomeValuesFrom( "peptidase inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (methylamine metabolic process) @@ -82901,18 +83306,21 @@ SubClassOf( "signaling receptor regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (signaling receptor activator activity) AnnotationAssertion(rdfs:label "signaling receptor activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (signaling receptor inhibitor activity) AnnotationAssertion(rdfs:label "signaling receptor inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (neutrophil chemotaxis) @@ -83201,74 +83609,59 @@ AnnotationAssertion( "obsolete integral component of mitochondrial inner membrane") AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (regulation of cellular metabolic process) +# Class: (obsolete regulation of cellular metabolic process) -AnnotationAssertion(rdfs:label "regulation of cellular metabolic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0019222") +AnnotationAssertion(rdfs:label "obsolete regulation of cellular metabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (negative regulation of cellular metabolic process) +# Class: (obsolete negative regulation of cellular metabolic process) -AnnotationAssertion(rdfs:label "negative regulation of cellular metabolic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009892") +AnnotationAssertion(rdfs:label "obsolete negative regulation of cellular metabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (positive regulation of cellular metabolic process) +# Class: (obsolete positive regulation of cellular metabolic process) -AnnotationAssertion(rdfs:label "positive regulation of cellular metabolic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009893") +AnnotationAssertion(rdfs:label "obsolete positive regulation of cellular metabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (regulation of cellular biosynthetic process) +# Class: (obsolete regulation of cellular biosynthetic process) -AnnotationAssertion(rdfs:label "regulation of cellular biosynthetic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009889") +AnnotationAssertion(rdfs:label "obsolete regulation of cellular biosynthetic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (negative regulation of cellular biosynthetic process) +# Class: (obsolete negative regulation of cellular biosynthetic process) -AnnotationAssertion(rdfs:label "negative regulation of cellular biosynthetic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009890") +AnnotationAssertion(rdfs:label "obsolete negative regulation of cellular biosynthetic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (positive regulation of cellular biosynthetic process) +# Class: (obsolete positive regulation of cellular biosynthetic process) -AnnotationAssertion(rdfs:label "positive regulation of cellular biosynthetic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009891") +AnnotationAssertion(rdfs:label "obsolete positive regulation of cellular biosynthetic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (regulation of cellular catabolic process) +# Class: (obsolete regulation of cellular catabolic process) -AnnotationAssertion(rdfs:label "regulation of cellular catabolic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009894") +AnnotationAssertion(rdfs:label "obsolete regulation of cellular catabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (negative regulation of cellular catabolic process) +# Class: (obsolete negative regulation of cellular catabolic process) -AnnotationAssertion(rdfs:label "negative regulation of cellular catabolic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009895") +AnnotationAssertion(rdfs:label "obsolete negative regulation of cellular catabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (positive regulation of cellular catabolic process) +# Class: (obsolete positive regulation of cellular catabolic process) -AnnotationAssertion(rdfs:label "positive regulation of cellular catabolic process") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion( "GO:0009896") +AnnotationAssertion(rdfs:label "obsolete positive regulation of cellular catabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (negative regulation of protein-containing complex assembly) @@ -83519,14 +83912,12 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "regulation of glucocorticoid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of glucocorticoid metabolic process) AnnotationAssertion(rdfs:label "negative regulation of glucocorticoid metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -83535,7 +83926,6 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of glucocorticoid metabolic process) AnnotationAssertion(rdfs:label "positive regulation of glucocorticoid metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -83880,7 +84270,7 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of hormone biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of hormone biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -85039,6 +85429,7 @@ SubClassOf( ObjectSomeValuesFrom( "ionotropic glutamate receptor signaling pathway") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (tube morphogenesis) @@ -85392,6 +85783,7 @@ SubClassOf( ObjectSomeValuesFrom( "ATPase inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (fluid transport) @@ -85503,17 +85895,15 @@ SubClassOf( "obsolete neurotransmitter binding") AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (cellular ketone metabolic process) +# Class: (ketone metabolic process) -AnnotationAssertion(rdfs:label "cellular ketone metabolic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion(rdfs:label "ketone metabolic process") +SubClassOf( ) # Class: (ketone biosynthetic process) AnnotationAssertion(rdfs:label "ketone biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) # Class: (response to chemical) @@ -85536,7 +85926,6 @@ SubClassOf( "regulation of fatty acid biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -85625,9 +86014,9 @@ AnnotationAssertion(rdfs:label "regu SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (cellular modified amino acid biosynthetic process) +# Class: (modified amino acid biosynthetic process) -AnnotationAssertion(rdfs:label "cellular modified amino acid biosynthetic process") +AnnotationAssertion(rdfs:label "modified amino acid biosynthetic process") SubClassOf( ) SubClassOf( ) @@ -85962,7 +86351,7 @@ SubClassOf( (regulation of sulfur metabolic process) AnnotationAssertion(rdfs:label "regulation of sulfur metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (proton motive force-driven mitochondrial ATP synthesis) @@ -86222,9 +86611,9 @@ AnnotationAssertion(rdfs:label "memb SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (non-membrane-bounded organelle) +# Class: (membraneless organelle) -AnnotationAssertion(rdfs:label "non-membrane-bounded organelle") +AnnotationAssertion(rdfs:label "membraneless organelle") SubClassOf( ) # Class: (intracellular organelle) @@ -86245,9 +86634,9 @@ AnnotationAssertion(rdfs:label "intr SubClassOf( ) SubClassOf( ) -# Class: (intracellular non-membrane-bounded organelle) +# Class: (intracellular membraneless organelle) -AnnotationAssertion(rdfs:label "intracellular non-membrane-bounded organelle") +AnnotationAssertion(rdfs:label "intracellular membraneless organelle") SubClassOf( ) SubClassOf( ) @@ -86301,9 +86690,9 @@ SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (extracellular non-membrane-bounded organelle) +# Class: (extracellular membraneless organelle) -AnnotationAssertion(rdfs:label "extracellular non-membrane-bounded organelle") +AnnotationAssertion(rdfs:label "extracellular membraneless organelle") SubClassOf( ) SubClassOf( ) @@ -86421,7 +86810,7 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of generation of precursor metabolites and energy) AnnotationAssertion(rdfs:label "regulation of generation of precursor metabolites and energy") -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of carbohydrate catabolic process) @@ -86459,6 +86848,7 @@ SubClassOf( "protein serine/threonine kinase activator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of kinase activity) @@ -86684,11 +87074,11 @@ SubClassOf( ObjectSomeValuesFrom( ) AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (cellular metabolic process) +# Class: (obsolete cellular metabolic process) -AnnotationAssertion(rdfs:label "cellular metabolic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "GO:0008152") +AnnotationAssertion(rdfs:label "obsolete cellular metabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (primary metabolic process) @@ -86705,19 +87095,18 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "cellular catabolic process") SubClassOf( ) -SubClassOf( ) -# Class: (cellular biosynthetic process) +# Class: (obsolete cellular biosynthetic process) -AnnotationAssertion(rdfs:label "cellular biosynthetic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "GO:0009058") +AnnotationAssertion(rdfs:label "obsolete cellular biosynthetic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (cellular lipid metabolic process) +# Class: (obsolete cellular lipid metabolic process) -AnnotationAssertion(rdfs:label "cellular lipid metabolic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "GO:0006629") +AnnotationAssertion(rdfs:label "obsolete cellular lipid metabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (obsolete cellular macromolecule metabolic process) @@ -86758,7 +87147,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "sulfur compound biosynthetic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) # Class: (sulfur compound catabolic process) @@ -87011,7 +87400,6 @@ SubClassOf( "glycerolipid biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) # Class: (plasma membrane fusion) @@ -87688,7 +88076,6 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of fatty acid biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of fatty acid biosynthetic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -87706,7 +88093,7 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of gluconeogenesis") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -87715,14 +88102,13 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of gluconeogenesis") SubClassOf( ) +SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of fatty acid biosynthetic process) AnnotationAssertion(rdfs:label "positive regulation of fatty acid biosynthetic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -87756,7 +88142,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of DNA repair") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -87765,7 +88150,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of DNA repair") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -87784,18 +88168,18 @@ SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (negative regulation of cellular amino acid metabolic process) +# Class: (negative regulation of amino acid metabolic process) -AnnotationAssertion(rdfs:label "negative regulation of cellular amino acid metabolic process") +AnnotationAssertion(rdfs:label "negative regulation of amino acid metabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of amino acid metabolic process) AnnotationAssertion(rdfs:label "positive regulation of amino acid metabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (regulation of angiogenesis) @@ -87874,7 +88258,7 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of glycogen catabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -87882,7 +88266,7 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of glycogen catabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -87899,7 +88283,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of glycolytic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -87933,7 +88316,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of isoprenoid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -87941,7 +88323,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of isoprenoid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -88209,7 +88590,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of fatty acid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -88218,7 +88598,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of fatty acid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -88587,7 +88966,6 @@ SubClassOf( "membrane lipid biosynthetic process") SubClassOf( ) SubClassOf( ) -SubClassOf( ) # Class: (glycerophospholipid biosynthetic process) @@ -88605,13 +88983,13 @@ AnnotationAssertion(owl:deprecated " # Class: (ether lipid metabolic process) AnnotationAssertion(rdfs:label "ether lipid metabolic process") +SubClassOf( ) SubClassOf( ) -SubClassOf( ) # Class: (glycerolipid metabolic process) AnnotationAssertion(rdfs:label "glycerolipid metabolic process") -SubClassOf( ) +SubClassOf( ) # Class: (phosphatidylinositol metabolic process) @@ -88627,7 +89005,6 @@ SubClassOf( "glycerol ether biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) # Class: (saliva secretion) @@ -88801,14 +89178,14 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of hormone biosynthetic process) AnnotationAssertion(rdfs:label "regulation of hormone biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of hormone biosynthetic process) AnnotationAssertion(rdfs:label "positive regulation of hormone biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -88910,27 +89287,23 @@ SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (cellular ketone body metabolic process) +# Class: (obsolete cellular ketone body metabolic process) -AnnotationAssertion(rdfs:label "cellular ketone body metabolic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "GO:1902224") +AnnotationAssertion(rdfs:label "obsolete cellular ketone body metabolic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (ketone body biosynthetic process) AnnotationAssertion(rdfs:label "ketone body biosynthetic process") -SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) # Class: (ketone body catabolic process) AnnotationAssertion(rdfs:label "ketone body catabolic process") -SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -88975,7 +89348,6 @@ AnnotationAssertion(rdfs:label "rece SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -SubClassOf( ObjectSomeValuesFrom( )) # Class: (somatic stem cell division) @@ -89656,14 +90028,13 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of lipoprotein metabolic process) AnnotationAssertion(rdfs:label "regulation of lipoprotein metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of lipoprotein metabolic process) AnnotationAssertion(rdfs:label "positive regulation of lipoprotein metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -89671,7 +90042,6 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of lipoprotein metabolic process) AnnotationAssertion(rdfs:label "negative regulation of lipoprotein metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -90464,20 +90834,20 @@ AnnotationAssertion(owl:deprecated " # Class: (regulation of phosphorus metabolic process) AnnotationAssertion(rdfs:label "regulation of phosphorus metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of sulfur metabolic process) AnnotationAssertion(rdfs:label "negative regulation of sulfur metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of sulfur metabolic process) AnnotationAssertion(rdfs:label "positive regulation of sulfur metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -91453,6 +91823,7 @@ SubClassOf( "ligase regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (obsolete oxidation-reduction process) @@ -91689,6 +92060,7 @@ SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) SubClassOf( ObjectSomeValuesFrom( )) @@ -91923,7 +92295,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "regulation of vitamin D biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -91931,7 +92302,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of vitamin D biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -91958,11 +92328,13 @@ SubClassOf( "nucleoside-triphosphatase regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (ATPase regulator activity) AnnotationAssertion(rdfs:label "ATPase regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (chondroblast differentiation) @@ -92178,17 +92550,20 @@ SubClassOf( ObjectSomeValuesFrom( "endopeptidase activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (peptidase regulator activity) AnnotationAssertion(rdfs:label "peptidase regulator activity") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (endopeptidase regulator activity) AnnotationAssertion(rdfs:label "endopeptidase regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (morphogenesis of a branching epithelium) @@ -92758,7 +93133,6 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "regulation of bile acid biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -92767,7 +93141,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of bile acid biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -92776,7 +93149,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of bile acid biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -92792,7 +93164,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of glycogen metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -92802,7 +93173,6 @@ SubClassOf( ObjectSomeValuesFrom( "positive regulation of glycogen metabolic process") SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -93452,7 +93822,6 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of sphingolipid biosynthetic process) AnnotationAssertion(rdfs:label "positive regulation of sphingolipid biosynthetic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -93460,7 +93829,6 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of sphingolipid biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of sphingolipid biosynthetic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -93630,12 +93998,14 @@ SubClassOf( ObjectSomeValuesFrom( "regulation of tryptophan metabolic process") SubClassOf( ) +SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of tryptophan metabolic process) AnnotationAssertion(rdfs:label "positive regulation of tryptophan metabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -93645,6 +94015,7 @@ SubClassOf( ObjectSomeValuesFrom( "regulation of ornithine metabolic process") SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of excitatory postsynaptic potential) @@ -93767,11 +94138,11 @@ SubClassOf( "melanocyte proliferation") SubClassOf( ) -# Class: (cellular lipid biosynthetic process) +# Class: (obsolete cellular lipid biosynthetic process) -AnnotationAssertion(rdfs:label "cellular lipid biosynthetic process") -SubClassOf( ) -SubClassOf( ) +AnnotationAssertion( "GO:0008610") +AnnotationAssertion(rdfs:label "obsolete cellular lipid biosynthetic process") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (dendritic tree) @@ -93848,6 +94219,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "iron ion transmembrane transporter inhibitor activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (intracellular vesicle) @@ -94270,11 +94642,13 @@ SubClassOf( "channel activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (ion channel regulator activity) AnnotationAssertion(rdfs:label "ion channel regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (microtubule-based transport) @@ -94471,6 +94845,7 @@ SubClassOf( ObjectSomeValuesFrom( "neurotransmitter receptor regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (signal release from synapse) @@ -94559,9 +94934,9 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "obsolete positive regulation of meiotic nuclear division by transcription from RNA polymerase II promoter") AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter) +# Class: (obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter) -AnnotationAssertion(rdfs:label "obsolete obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter") +AnnotationAssertion(rdfs:label "obsolete regulation of fatty acid biosynthetic process by transcription from RNA polymerase II promoter") AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (3-beta-hydroxysteroid dehydrogenase/C4-decarboxylase activity) @@ -94656,9 +95031,9 @@ SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (cellular anatomical entity) +# Class: (cellular anatomical structure) -AnnotationAssertion(rdfs:label "cellular anatomical entity") +AnnotationAssertion(rdfs:label "cellular anatomical structure") SubClassOf( ) # Class: (plasma membrane bounded cell projection) @@ -94917,6 +95292,7 @@ SubClassOf( "transcription regulator inhibitor activity") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (nuclear protein-containing complex) @@ -94929,6 +95305,7 @@ SubClassOf( ObjectSomeValuesFrom( "transcription regulator activator activity") SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (defense response to symbiont) @@ -94945,6 +95322,7 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "aldehyde dehydrogenase (NAD+) inhibitor activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (ATP-dependent activity) @@ -94972,18 +95350,21 @@ SubClassOf( "transporter regulator activity") SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (transporter activator activity) AnnotationAssertion(rdfs:label "transporter activator activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (transporter inhibitor activity) AnnotationAssertion(rdfs:label "transporter inhibitor activity") SubClassOf( ) SubClassOf( ) +SubClassOf( ObjectSomeValuesFrom( )) # Class: (intracellular signaling cassette) @@ -95387,24 +95768,24 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "obsolete positive regulation of purine nucleotide biosynthetic process by positive regulation of transcription from RNA polymerase II promoter") AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) -# Class: (regulation of cellular alcohol catabolic process) +# Class: (regulation of alcohol catabolic process) -AnnotationAssertion(rdfs:label "regulation of cellular alcohol catabolic process") +AnnotationAssertion(rdfs:label "regulation of alcohol catabolic process") SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (negative regulation of cellular alcohol catabolic process) +# Class: (negative regulation of alcohol catabolic process) -AnnotationAssertion(rdfs:label "negative regulation of cellular alcohol catabolic process") +AnnotationAssertion(rdfs:label "negative regulation of alcohol catabolic process") SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (positive regulation of cellular alcohol catabolic process) +# Class: (positive regulation of alcohol catabolic process) -AnnotationAssertion(rdfs:label "positive regulation of cellular alcohol catabolic process") +AnnotationAssertion(rdfs:label "positive regulation of alcohol catabolic process") SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -95848,13 +96229,14 @@ SubClassOf( ObjectSomeValuesFrom( "regulation of gamma-aminobutyric acid catabolic process") SubClassOf( ) -SubClassOf( ) +SubClassOf( ) +SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of gamma-aminobutyric acid catabolic process) AnnotationAssertion(rdfs:label "negative regulation of gamma-aminobutyric acid catabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -95863,7 +96245,7 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of gamma-aminobutyric acid catabolic process) AnnotationAssertion(rdfs:label "positive regulation of gamma-aminobutyric acid catabolic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -95879,14 +96261,14 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of cellular respiration) AnnotationAssertion(rdfs:label "negative regulation of cellular respiration") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of cellular respiration) AnnotationAssertion(rdfs:label "positive regulation of cellular respiration") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -96051,6 +96433,7 @@ SubClassOf( "ketone body metabolic process") SubClassOf( ) +SubClassOf( ) SubClassOf( ) # Class: (apoptotic process involved in blood vessel morphogenesis) @@ -96967,7 +97350,7 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of glutathione biosynthetic process) AnnotationAssertion(rdfs:label "regulation of glutathione biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -96975,7 +97358,7 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of glutathione biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of glutathione biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -96984,7 +97367,7 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of glutathione biosynthetic process) AnnotationAssertion(rdfs:label "positive regulation of glutathione biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -97276,14 +97659,12 @@ AnnotationAssertion(owl:deprecated " AnnotationAssertion(rdfs:label "regulation of bile acid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of bile acid metabolic process) AnnotationAssertion(rdfs:label "negative regulation of bile acid metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -97292,7 +97673,6 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of bile acid metabolic process) AnnotationAssertion(rdfs:label "positive regulation of bile acid metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -97305,13 +97685,10 @@ SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (negative regulation of iron ion transmembrane transporter activity) +# Class: (obsolete negative regulation of iron ion transmembrane transporter activity) -AnnotationAssertion(rdfs:label "negative regulation of iron ion transmembrane transporter activity") -SubClassOf( ) -SubClassOf( ) -SubClassOf( ) -SubClassOf( ObjectSomeValuesFrom( )) +AnnotationAssertion(rdfs:label "obsolete negative regulation of iron ion transmembrane transporter activity") +AnnotationAssertion(owl:deprecated "true"^^xsd:boolean) # Class: (obsolete positive regulation of iron ion transmembrane transporter activity) @@ -97546,16 +97923,16 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of ubiquinone biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of ubiquinone biosynthetic process") +SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (positive regulation of ubiquinone biosynthetic process) AnnotationAssertion(rdfs:label "positive regulation of ubiquinone biosynthetic process") +SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -97610,7 +97987,6 @@ SubClassOf( ObjectSomeValuesFrom( "regulation of membrane lipid metabolic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (carboxylic acid transmembrane transport) @@ -98183,14 +98559,13 @@ SubClassOf( ObjectSomeValuesFrom( "regulation of L-ascorbic acid biosynthetic process") SubClassOf( ) SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of L-ascorbic acid biosynthetic process) AnnotationAssertion(rdfs:label "negative regulation of L-ascorbic acid biosynthetic process") -SubClassOf( ) +SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -98275,7 +98650,6 @@ SubClassOf( ObjectSomeValuesFrom( (negative regulation of proline metabolic process) AnnotationAssertion(rdfs:label "negative regulation of proline metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -98284,7 +98658,6 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of proline metabolic process) AnnotationAssertion(rdfs:label "positive regulation of proline metabolic process") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ) @@ -98301,7 +98674,6 @@ SubClassOf( ObjectSomeValuesFrom( "negative regulation of testosterone biosynthetic process") SubClassOf( ) -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -98443,9 +98815,9 @@ SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) -# Class: (regulation of cellular amino acid biosynthetic process) +# Class: (regulation of amino acid biosynthetic process) -AnnotationAssertion(rdfs:label "regulation of cellular amino acid biosynthetic process") +AnnotationAssertion(rdfs:label "regulation of amino acid biosynthetic process") SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -98607,14 +98979,12 @@ SubClassOf( ObjectSomeValuesFrom( (regulation of thyroid hormone generation) AnnotationAssertion(rdfs:label "regulation of thyroid hormone generation") -SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) # Class: (negative regulation of thyroid hormone generation) AnnotationAssertion(rdfs:label "negative regulation of thyroid hormone generation") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -98622,7 +98992,6 @@ SubClassOf( ObjectSomeValuesFrom( (positive regulation of thyroid hormone generation) AnnotationAssertion(rdfs:label "positive regulation of thyroid hormone generation") -SubClassOf( ) SubClassOf( ) SubClassOf( ) SubClassOf( ObjectSomeValuesFrom( )) @@ -137034,6 +137403,16 @@ SubClassOf( "Ursus americanus") SubClassOf( ) +# Class: (Ailuropoda) + +AnnotationAssertion(rdfs:label "Ailuropoda") +SubClassOf( ) + +# Class: (Ailuropoda melanoleuca) + +AnnotationAssertion(rdfs:label "Ailuropoda melanoleuca") +SubClassOf( ) + # Class: (Procyonidae) AnnotationAssertion(rdfs:label "Procyonidae") diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index 9657bf3649..9eebce12bb 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -341795,8 +341795,8 @@ xref: Orphanet:476084 {source="DOID:0110290", source="MONDO:equivalentTo"} xref: UMLS:C5568138 {source="MEDGEN:1799561", source="MONDO:equivalentTo", source="MONDO:MEDGEN"} is_a: MONDO:0015152 {source="DOID:0110290", source="MONDO:Redundant", source="OMIM:616812", source="Orphanet:476084"} ! autosomal recessive limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy -intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 ! BVES -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 {source="MONDO:mim2gene_medgen"} ! BVES +intersection_of: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 ! POPDC1 +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/1152 {source="MONDO:mim2gene_medgen"} ! POPDC1 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/4521" xsd:anyURI [Term] @@ -554140,7 +554140,7 @@ xref: OMIM:619975 {source="MONDO:equivalentTo"} xref: Orphanet:661526 {source="MONDO:equivalentTo"} xref: UMLS:C5774186 {source="MONDO:equivalentTo", source="MONDO:MEDGEN", source="MEDGEN:1823959"} is_a: MONDO:0015356 {source="OMIM:619975", source="Orphanet:661526"} ! hereditary neoplastic syndrome -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6919 {source="OMIM:619975"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/hgnc/6919 {source="OMIM:619975"} ! MBD4 property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/8214" xsd:anyURI [Term] @@ -585191,7 +585191,7 @@ synonym: "Arachnomelia, SUOX-related, cattle" EXACT [OMIA:000059-9913] xref: OMIA:000059-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:000059-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012955 {source="OMIA:000059-9913", source="https://orcid.org/0000-0002-5002-8648"} ! arachnomelia syndrome, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/509837 {source="OMIA:000059-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/509837 {source="OMIA:000059-9913", source="https://orcid.org/0000-0002-5002-8648"} ! SUOX relationship: in_taxon NCBITaxon:9913 {source="OMIA:000059-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585205,7 +585205,7 @@ synonym: "HMLR" EXACT ABBREVIATION [OMIA:001374-9615] xref: OMIA:001374-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001374-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012963 {source="OMIA:001374-9615", source="https://orcid.org/0000-0002-5002-8648"} ! centronuclear myopathy, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/574011 {source="OMIA:001374-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/574011 {source="OMIA:001374-9615", source="https://orcid.org/0000-0002-5002-8648"} ! HACD1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001374-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585217,7 +585217,7 @@ synonym: "Arachnomelia, MOCS1-related in Bos taurus (taurine cattle)" EXACT [OMI xref: OMIA:001541-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001541-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012955 {source="OMIA:001541-9913", source="https://orcid.org/0000-0002-5002-8648"} ! arachnomelia syndrome, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/281917 {source="OMIA:001541-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/281917 {source="OMIA:001541-9913", source="https://orcid.org/0000-0002-5002-8648"} ! MOCS1 relationship: in_taxon NCBITaxon:9913 {source="OMIA:001541-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585231,7 +585231,7 @@ xref: OMIA:001596-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1010411 {source="OMIA:001596-9615", source="https://orcid.org/0000-0002-5002-8648"} ! epilepsy, dog is_a: MONDO:1011321 {source="OMIA:001596-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488853 {source="OMIA:001596-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488853 {source="OMIA:001596-9615", source="https://orcid.org/0000-0002-5002-8648"} ! LGI2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001596-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585253,7 +585253,7 @@ synonym: "inherited myopathy of Great Danes" NARROW [OMIA:001660-9615] xref: OMIA:001660-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001660-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012963 {source="OMIA:001660-9615", source="https://orcid.org/0000-0002-5002-8648"} ! centronuclear myopathy, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483870 {source="OMIA:001660-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483870 {source="OMIA:001660-9615", source="https://orcid.org/0000-0002-5002-8648"} ! BIN1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001660-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585265,7 +585265,7 @@ synonym: "ataxia, cerebellar, progressive early-onset, SEL1L-related, dog" EXACT xref: OMIA:001692-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:001692-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:001692-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/480409 {source="OMIA:001692-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/480409 {source="OMIA:001692-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SEL1L relationship: in_taxon NCBITaxon:9615 {source="OMIA:001692-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585278,7 +585278,7 @@ synonym: "canine hereditary ataxia" RELATED [OMIA:001913-9615] xref: OMIA:001913-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:001913-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012959 {source="OMIA:001913-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479277 {source="OMIA:001913-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479277 {source="OMIA:001913-9615", source="https://orcid.org/0000-0002-5002-8648"} ! RAB24 relationship: in_taxon NCBITaxon:9615 {source="OMIA:001913-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585290,7 +585290,7 @@ synonym: "achondrogenesis, type II in Sus scrofa (pig)" RELATED [OMIA:001926-982 xref: OMIA:001926-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1010306 {source="OMIA:001926-9823", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrodysplasia, non-human animal is_a: MONDO:1011321 {source="OMIA:001926-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397323 {source="OMIA:001926-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397323 {source="OMIA:001926-9823", source="https://orcid.org/0000-0002-5002-8648"} ! COL2A1 relationship: in_taxon NCBITaxon:9823 {source="OMIA:001926-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585303,7 +585303,7 @@ synonym: "bulldog calf syndrome" EXACT [PMID:32894162] xref: OMIA:001926-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1010306 {source="OMIA:001926-9913", source="https://orcid.org/0000-0002-5002-8648"} ! osteochondrodysplasia, non-human animal is_a: MONDO:1011321 {source="OMIA:001926-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/407142 {source="OMIA:001926-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/407142 {source="OMIA:001926-9913", source="https://orcid.org/0000-0002-5002-8648"} ! COL2A1 relationship: in_taxon NCBITaxon:9913 {source="OMIA:001926-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585315,7 +585315,7 @@ synonym: "cataract, recessive, NID1-related, cattle" EXACT [OMIA:001936-9913] xref: OMIA:001936-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001936-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012962 {source="OMIA:001936-9913", source="https://orcid.org/0000-0002-5002-8648"} ! cataract, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/534319 {source="OMIA:001936-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/534319 {source="OMIA:001936-9913", source="https://orcid.org/0000-0002-5002-8648"} ! NID1 relationship: in_taxon NCBITaxon:9913 {source="OMIA:001936-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585328,7 +585328,7 @@ synonym: "inferior cerebellar hypoplasia" RELATED [OMIA:001947-9615] xref: OMIA:001947-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:001947-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:001947-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476336 {source="OMIA:001947-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476336 {source="OMIA:001947-9615", source="https://orcid.org/0000-0002-5002-8648"} ! VLDLR relationship: in_taxon NCBITaxon:9615 {source="OMIA:001947-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585339,7 +585339,7 @@ def: "Any cancer that occurs in golden hamster due to a mutation in the TP53 gen xref: OMIA:001990-10036 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001990-10036", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011828 {source="OMIA:001990-10036", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101833915 {source="OMIA:001990-10036", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101833915 {source="OMIA:001990-10036", source="https://orcid.org/0000-0002-5002-8648"} ! Tp53 relationship: in_taxon NCBITaxon:10036 {source="OMIA:001990-10036"} ! Mesocricetus auratus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585350,7 +585350,7 @@ def: "Any cancer that occurs in crab-eating macaques due to a mutation in the TP xref: OMIA:001990-9541 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001990-9541", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011828 {source="OMIA:001990-9541", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/102135998 {source="OMIA:001990-9541", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/102135998 {source="OMIA:001990-9541", source="https://orcid.org/0000-0002-5002-8648"} ! TP53 relationship: in_taxon NCBITaxon:9541 {source="OMIA:001990-9541"} ! Macaca fascicularis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585361,7 +585361,7 @@ def: "Any cancer that occurs in pigs due to a mutation in the TP53 gene created xref: OMIA:001990-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:001990-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011828 {source="OMIA:001990-9823", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397276 {source="OMIA:001990-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397276 {source="OMIA:001990-9823", source="https://orcid.org/0000-0002-5002-8648"} ! TP53 relationship: in_taxon NCBITaxon:9823 {source="OMIA:001990-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585372,7 +585372,7 @@ def: "Any arthrogryposis multiplex congenita that occurs in cattle due to a muta xref: OMIA:002022-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002022-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011474 {source="OMIA:002022-9913", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis multiplex congenita, cattle -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/282179 {source="OMIA:002022-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/282179 {source="OMIA:002022-9913", source="https://orcid.org/0000-0002-5002-8648"} ! CHRNB1 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002022-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585383,7 +585383,7 @@ def: "Progressive cerebellar ataxia that occurs in dogs due to a mutation in the xref: OMIA:002034-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002034-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002034-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/474985 {source="OMIA:002034-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/474985 {source="OMIA:002034-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SNX14 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002034-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585394,7 +585394,7 @@ def: "Any cancer that occurs in pigs due to a mutation in the RUNX gene created xref: OMIA:002054-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002054-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011828 {source="OMIA:002054-9823", source="https://orcid.org/0000-0002-5002-8648"} ! cancer, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403159 {source="OMIA:002054-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403159 {source="OMIA:002054-9823", source="https://orcid.org/0000-0002-5002-8648"} ! RUNX3 relationship: in_taxon NCBITaxon:9823 {source="OMIA:002054-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585410,7 +585410,7 @@ synonym: "spongy degeneration with cerebellar ataxia 1" RELATED [OMIA:002089-961 xref: OMIA:002089-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002089-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002089-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488635 {source="OMIA:002089-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/488635 {source="OMIA:002089-9615", source="https://orcid.org/0000-0002-5002-8648"} ! KCNJ10 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002089-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585423,7 +585423,7 @@ synonym: "neonatal cerebellar cortical degeneration" RELATED [OMIA:002092-9615] xref: OMIA:002092-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002092-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002092-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483706 {source="OMIA:002092-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/483706 {source="OMIA:002092-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SPTBN2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002092-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585436,7 +585436,7 @@ synonym: "SCAIS" EXACT ABBREVIATION [OMIA:002097-9615] xref: OMIA:002097-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002097-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002097-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476548 {source="OMIA:002097-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476548 {source="OMIA:002097-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ITPR1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002097-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585449,7 +585449,7 @@ synonym: "spongy degeneration with cerebellar ataxia 2" RELATED [] xref: OMIA:002110-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002110-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012959 {source="OMIA:002110-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/489479 {source="OMIA:002110-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/489479 {source="OMIA:002110-9615", source="https://orcid.org/0000-0002-5002-8648"} ! ATP1B2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002110-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585462,7 +585462,7 @@ synonym: "Morgagnian cataract" RELATED [OMIA:002111-9913] xref: OMIA:002111-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002111-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012962 {source="OMIA:002111-9913", source="https://orcid.org/0000-0002-5002-8648"} ! cataract, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100298265 {source="OMIA:002111-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100298265 {source="OMIA:002111-9913", source="https://orcid.org/0000-0002-5002-8648"} ! CPAMD8 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002111-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585476,7 +585476,7 @@ synonym: "curly calf syndrome" RELATED [OMIA:002135-9913] xref: OMIA:002135-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002135-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011474 {source="OMIA:002135-9913", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis multiplex congenita, cattle -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/525795 {source="OMIA:002135-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/525795 {source="OMIA:002135-9913", source="https://orcid.org/0000-0002-5002-8648"} ! AGRN relationship: in_taxon NCBITaxon:9913 {source="OMIA:002135-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585488,7 +585488,7 @@ synonym: "ataxia, spinocerebellar, SCN8A-related, dog" EXACT [OMIA:002194-9615] xref: OMIA:002194-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002194-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002194-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/477604 {source="OMIA:002194-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/477604 {source="OMIA:002194-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SCN8A relationship: in_taxon NCBITaxon:9615 {source="OMIA:002194-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585501,7 +585501,7 @@ synonym: "progressive cerebellar ataxia" RELATED [OMIA:002240-9615] xref: OMIA:002240-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002240-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002240-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479129 {source="OMIA:002240-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479129 {source="OMIA:002240-9615", source="https://orcid.org/0000-0002-5002-8648"} ! KCNIP4 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002240-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585513,7 +585513,7 @@ synonym: "ataxia, spinocerebellar, SLC12A6-related, dog" EXACT [OMIA:002279-9615 xref: OMIA:002279-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002279-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002279-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/478239 {source="OMIA:002279-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/478239 {source="OMIA:002279-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SLC12A6 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002279-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585525,7 +585525,7 @@ xref: OMIA:002283-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002283-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011475 {source="OMIA:002283-9823", source="https://orcid.org/0000-0002-5002-8648"} ! arthrogryposis multiplex congenita, pig relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100520674 {source="OMIA:002283-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100520674 {source="OMIA:002283-9823", source="https://orcid.org/0000-0002-5002-8648"} ! KIF21A relationship: in_taxon NCBITaxon:9823 {source="OMIA:002283-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585538,7 +585538,7 @@ xref: OMIA:002294-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1010917 {source="OMIA:002294-9615", source="https://orcid.org/0000-0002-5002-8648"} ! myopathy, dog is_a: MONDO:1012957 {source="OMIA:002294-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002294-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/478798 {source="OMIA:002294-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/478798 {source="OMIA:002294-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SLC25A12 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002294-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585549,8 +585549,8 @@ def: "Any cataract that occurs in giant pandas due to a mutation in the MIP gene xref: OMIA:002309-9646 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002309-9646", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012962 {source="OMIA:002309-9646", source="https://orcid.org/0000-0002-5002-8648"} ! cataract, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100472661 {source="OMIA:002309-9646", source="https://orcid.org/0000-0002-5002-8648"} -relationship: in_taxon NCBITaxon:9646 {source="OMIA:002309-9646"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100472661 {source="OMIA:002309-9646", source="https://orcid.org/0000-0002-5002-8648"} ! MIP +relationship: in_taxon NCBITaxon:9646 {source="OMIA:002309-9646"} ! Ailuropoda melanoleuca property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI [Term] @@ -585571,7 +585571,7 @@ def: "Abnormal locomotion defined by the loss of typical jumping and blindness a xref: OMIA:002317-9986 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002317-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011360 {source="OMIA:002317-9986", source="https://orcid.org/0000-0002-5002-8648"} ! syndromic disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100345295 {source="OMIA:002317-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100345295 {source="OMIA:002317-9986", source="https://orcid.org/0000-0002-5002-8648"} ! RORB relationship: in_taxon NCBITaxon:9986 {source="OMIA:002317-9986"} ! Oryctolagus cuniculus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585585,7 +585585,7 @@ synonym: "CNS atrophy with cerebellar ataxia" RELATED [OMIA:002367-9615] xref: OMIA:002367-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012957 {source="OMIA:002367-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, dog is_a: MONDO:1012960 {source="OMIA:002367-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479346 {source="OMIA:002367-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/479346 {source="OMIA:002367-9615", source="https://orcid.org/0000-0002-5002-8648"} ! SELENOP relationship: in_taxon NCBITaxon:9615 {source="OMIA:002367-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585597,7 +585597,7 @@ synonym: "ataxia, spinocerebellar, ATXN3-related, white-tufted-ear marmoset" EXA xref: OMIA:002473-9483 {source="MONDO:equivalentTo"} is_a: MONDO:1012956 {source="OMIA:002473-9483", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar ataxia, non-human animal is_a: MONDO:1012960 {source="OMIA:002473-9483", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100393557 {source="OMIA:002473-9483", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100393557 {source="OMIA:002473-9483", source="https://orcid.org/0000-0002-5002-8648"} ! ATXN3 relationship: in_taxon NCBITaxon:9483 {source="OMIA:002473-9483"} ! Callithrix jacchus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585608,7 +585608,7 @@ def: "Any amyotrophic lateral sclerosis that occurs in pigs due to a mutation in xref: OMIA:002491-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011322 {source="OMIA:002491-9823", source="https://orcid.org/0000-0002-5002-8648"} ! iatrogenic disease, non-human animal is_a: MONDO:1012954 {source="OMIA:002491-9823", source="https://orcid.org/0000-0002-5002-8648"} ! amyotrophic lateral sclerosis, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397036 {source="OMIA:002491-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397036 {source="OMIA:002491-9823", source="https://orcid.org/0000-0002-5002-8648"} ! SOD1 relationship: in_taxon NCBITaxon:9823 {source="OMIA:002491-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585619,7 +585619,7 @@ def: "Any amyotrophic lateral sclerosis that occurs in crab-eating macaque due t xref: OMIA:002492-9541 {source="MONDO:equivalentTo"} is_a: MONDO:1011322 {source="OMIA:002492-9541", source="https://orcid.org/0000-0002-5002-8648"} ! iatrogenic disease, non-human animal is_a: MONDO:1012954 {source="OMIA:002492-9541", source="https://orcid.org/0000-0002-5002-8648"} ! amyotrophic lateral sclerosis, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101926677 {source="OMIA:002492-9541", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101926677 {source="OMIA:002492-9541", source="https://orcid.org/0000-0002-5002-8648"} ! TARDBP relationship: in_taxon NCBITaxon:9541 {source="OMIA:002492-9541"} ! Macaca fascicularis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585630,7 +585630,7 @@ def: "Any amyotrophic lateral sclerosis that occurs in Rhesus monkey due to a mu xref: OMIA:002492-9544 {source="MONDO:equivalentTo"} is_a: MONDO:1011322 {source="OMIA:002492-9544", source="https://orcid.org/0000-0002-5002-8648"} ! iatrogenic disease, non-human animal is_a: MONDO:1012954 {source="OMIA:002492-9544", source="https://orcid.org/0000-0002-5002-8648"} ! amyotrophic lateral sclerosis, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100423163 {source="OMIA:002492-9544", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100423163 {source="OMIA:002492-9544", source="https://orcid.org/0000-0002-5002-8648"} ! TARDBP relationship: in_taxon NCBITaxon:9544 {source="OMIA:002492-9544"} ! Macaca mulatta property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585641,7 +585641,7 @@ def: "Any amyotrophic lateral sclerosis that occurs in pigs due to a mutation in xref: OMIA:002492-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011322 {source="OMIA:002492-9823", source="https://orcid.org/0000-0002-5002-8648"} ! iatrogenic disease, non-human animal is_a: MONDO:1012954 {source="OMIA:002492-9823", source="https://orcid.org/0000-0002-5002-8648"} ! amyotrophic lateral sclerosis, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100739753 {source="OMIA:002492-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100739753 {source="OMIA:002492-9823", source="https://orcid.org/0000-0002-5002-8648"} ! TARDBP relationship: in_taxon NCBITaxon:9823 {source="OMIA:002492-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585652,7 +585652,7 @@ def: "Alzheimer disease that occurs in pigs due to a mutation in the PSEN1 gene xref: OMIA:002493-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002493-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002493-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/780411 {source="OMIA:002493-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/780411 {source="OMIA:002493-9823", source="https://orcid.org/0000-0002-5002-8648"} ! PSEN1 relationship: in_taxon NCBITaxon:9823 {source="OMIA:002493-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585663,7 +585663,7 @@ def: "Any ataxia that occurs in dogs due to a mutation in the HACE1 gene." [MOND xref: OMIA:002522-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012958 {source="OMIA:002522-9615", source="https://orcid.org/0000-0002-5002-8648"} ! atactic disorder, non-human animal is_a: MONDO:1012959 {source="OMIA:002522-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary ataxia, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/475010 {source="OMIA:002522-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/475010 {source="OMIA:002522-9615", source="https://orcid.org/0000-0002-5002-8648"} ! HACE1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002522-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585673,7 +585673,7 @@ name: abdominal hernia, TWIST1-related, cattle def: "Hernia of the linea alba that occurs in cattle due to a mutation in the TWIST1 gene." [PMID:35187669] xref: OMIA:002532-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002532-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/782170 {source="OMIA:002532-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/782170 {source="OMIA:002532-9913", source="https://orcid.org/0000-0002-5002-8648"} ! TWIST1 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002532-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585687,7 +585687,7 @@ synonym: "centronuclear myopathy 1, DNM2-related, dog" EXACT [OMIA:002534-9615] xref: OMIA:002534-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002534-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012963 {source="OMIA:002534-9615", source="https://orcid.org/0000-0002-5002-8648"} ! centronuclear myopathy, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/484949 {source="OMIA:002534-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/484949 {source="OMIA:002534-9615", source="https://orcid.org/0000-0002-5002-8648"} ! DNM2 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002534-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585698,7 +585698,7 @@ def: "Any cataract that occurs in cattle due to a mutation in the ADAMTSL4 gene. xref: OMIA:002535-9913 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002535-9913", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012962 {source="OMIA:002535-9913", source="https://orcid.org/0000-0002-5002-8648"} ! cataract, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/507654 {source="OMIA:002535-9913", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/507654 {source="OMIA:002535-9913", source="https://orcid.org/0000-0002-5002-8648"} ! ADAMTSL4 relationship: in_taxon NCBITaxon:9913 {source="OMIA:002535-9913"} ! Bos taurus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585710,7 +585710,7 @@ synonym: "Juvenile cataract" RELATED [OMIA:002536-9615] xref: OMIA:002536-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002536-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012962 {source="OMIA:002536-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cataract, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476649 {source="OMIA:002536-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/476649 {source="OMIA:002536-9615", source="https://orcid.org/0000-0002-5002-8648"} ! FYCO1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002536-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585721,7 +585721,7 @@ def: "Alzheimer disease that occurs in white-tufted-ear marmoset due to a mutati xref: OMIA:002538-9483 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002538-9483", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002538-9483", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100407052 {source="OMIA:002538-9483", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100407052 {source="OMIA:002538-9483", source="https://orcid.org/0000-0002-5002-8648"} ! APP relationship: in_taxon NCBITaxon:9483 {source="OMIA:002538-9483"} ! Callithrix jacchus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585732,7 +585732,7 @@ def: "Alzheimer disease that occurs in crab-eating macaque due to a mutation in xref: OMIA:002538-9541 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002538-9541", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002538-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101926433 {source="OMIA:002538-9541", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/101926433 {source="OMIA:002538-9541", source="https://orcid.org/0000-0002-5002-8648"} ! APP relationship: in_taxon NCBITaxon:9541 {source="OMIA:002538-9541"} ! Macaca fascicularis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585743,7 +585743,7 @@ def: "Alzheimer disease that occurs in Rhesus monkey due to a mutation in the AP xref: OMIA:002538-9544 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002538-9544", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002538-9544", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100427716 {source="OMIA:002538-9544", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100427716 {source="OMIA:002538-9544", source="https://orcid.org/0000-0002-5002-8648"} ! APP relationship: in_taxon NCBITaxon:9544 {source="OMIA:002538-9544"} ! Macaca mulatta property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585754,7 +585754,7 @@ def: "Alzheimer disease that occurs in pigs due to a mutation in the APP gene cr xref: OMIA:002538-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002538-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002538-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397663 {source="OMIA:002538-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/397663 {source="OMIA:002538-9823", source="https://orcid.org/0000-0002-5002-8648"} ! APP relationship: in_taxon NCBITaxon:9823 {source="OMIA:002538-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585766,7 +585766,7 @@ synonym: "Alzheimer, SORL1-related in Sus scrofa (pig)" EXACT [OMIA:002575-9823] xref: OMIA:002575-9823 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002575-9823", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002575-9823", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100626812 {source="OMIA:002575-9823", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100626812 {source="OMIA:002575-9823", source="https://orcid.org/0000-0002-5002-8648"} ! SORL1 relationship: in_taxon NCBITaxon:9823 {source="OMIA:002575-9823"} ! Sus scrofa property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585777,7 +585777,7 @@ def: "Any amelogenesis imperfecta that occurs in rabbits due to a mutation in th xref: OMIA:002600-9986 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002600-9986", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1012952 {source="OMIA:002600-9986", source="https://orcid.org/0000-0002-5002-8648"} ! amelogenesis imperfecta, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/103347222 {source="OMIA:002600-9986", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/103347222 {source="OMIA:002600-9986", source="https://orcid.org/0000-0002-5002-8648"} ! FAM83H relationship: in_taxon NCBITaxon:9986 {source="OMIA:002600-9986"} ! Oryctolagus cuniculus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585789,7 +585789,7 @@ xref: OMIA:002602-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1012038 {source="OMIA:002602-9615", source="https://orcid.org/0000-0002-5002-8648"} ! cerebellar abiotrophy, dog is_a: MONDO:1012960 {source="OMIA:002602-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary cerebellar ataxia, non-human animal relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/119881609 {source="OMIA:002602-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/119881609 {source="OMIA:002602-9615", source="https://orcid.org/0000-0002-5002-8648"} ! VMP1 relationship: in_taxon NCBITaxon:9615 {source="OMIA:002602-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585810,7 +585810,7 @@ xref: OMIA:002538-9615 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002538-9615", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011461 {source="OMIA:002538-9615", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, dog relationship: excluded_from_qc_check http://purl.obolibrary.org/obo/mondo/sparql/qc/general/qc-single-child.sparql -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403407 {source="OMIA:002538-9615", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/403407 {source="OMIA:002538-9615", source="https://orcid.org/0000-0002-5002-8648"} ! APP relationship: in_taxon NCBITaxon:9615 {source="OMIA:002538-9615"} ! Canis lupus familiaris property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585821,7 +585821,7 @@ def: "Alzheimer disease that occurs in white-tufted-ear marmoset due to a mutati xref: OMIA:002493-9483 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002493-9483", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002493-9483", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100401034 {source="OMIA:002493-9483", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/100401034 {source="OMIA:002493-9483", source="https://orcid.org/0000-0002-5002-8648"} ! PSEN1 relationship: in_taxon NCBITaxon:9483 {source="OMIA:002493-9483"} ! Callithrix jacchus property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI @@ -585832,7 +585832,7 @@ def: "Alzheimer disease that occurs in crab-eating macaque due to a mutation in xref: OMIA:002493-9541 {source="MONDO:equivalentTo"} is_a: MONDO:1011321 {source="OMIA:002493-9541", source="https://orcid.org/0000-0002-5002-8648"} ! hereditary disease, non-human animal is_a: MONDO:1011443 {source="OMIA:002493-9541", source="https://orcid.org/0000-0002-5002-8648"} ! Alzheimer disease, non-human animal -relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/102138674 {source="OMIA:002493-9541", source="https://orcid.org/0000-0002-5002-8648"} +relationship: has_material_basis_in_germline_mutation_in http://identifiers.org/ncbigene/102138674 {source="OMIA:002493-9541", source="https://orcid.org/0000-0002-5002-8648"} ! PSEN1 relationship: in_taxon NCBITaxon:9541 {source="OMIA:002493-9541"} ! Macaca fascicularis property_value: IAO:0000233 "https://github.com/monarch-initiative/mondo/issues/7271" xsd:anyURI diff --git a/src/sparql/construct/construct-ncbigene.sparql b/src/sparql/construct/construct-ncbigene.sparql index 898cc4fcf1..ca26f925c4 100644 --- a/src/sparql/construct/construct-ncbigene.sparql +++ b/src/sparql/construct/construct-ncbigene.sparql @@ -82,6 +82,7 @@ WHERE { +