sivarajankumar / phenotype-ontologies

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ZFIN annotations use BSPO relations as classes #5

Open GoogleCodeExporter opened 8 years ago

GoogleCodeExporter commented 8 years ago
Example:

ZP_0007094

Which corresponds to association files with the following 6-tuple:

ZFA:0000360     PATO:0002168    PATO:0000460    ZFA:0001094 BSPO:0000121

i.e.

ZFA:0000360-heart tube          PATO:0002168-displaced to       
PATO:0000460-abnormal   ZFA:0001094-whole organism      
BSPO:0000121-in_right_side_of

And generates the nonsensical label:
"abnormal(ly) displaced to heart tube towards whole organism in_right_side_of"

And results in inadvertant punning on the BSPO IRI.

I would recommend that annotators do not attempt to do advanced 
post-composition, e.g. using BSPO. It would be better if the ZFIN annotation 
tools could use the OWLAPI to detect these issues upstream.

As it is, we need some kind of interim fix for now. This may have to be at the 
time of ZP building, requires coordination with Charite

Original issue reported on code.google.com by cmung...@gmail.com on 12 Nov 2013 at 8:57

GoogleCodeExporter commented 8 years ago
short term fix required: fix monarch import chain to avoid punning

Original comment by cmung...@gmail.com on 12 Nov 2013 at 8:58

GoogleCodeExporter commented 8 years ago
btw, the intended phenotype is obviously:

heart tube displaced to right side of organism

Which is (I presume) homologous to the mammalian phenotype:

[Term]
id: MP:0000644
name: dextrocardia
namespace: MPheno.ontology
alt_id: Fyler:0110
alt_id: Fyler:110
def: "congenital defect in which the heart is located on the right side of the 
thorax instead of on the left side (levocardia, the normal position)" 
[MESH:C14.240.400.280, MGI:anna]
subset: CvDC_Terms  ! NHLBI Cardiovascular Development Consortium (CvDC) Terms
is_a: MP:0006065  ! abnormal heart position or orientation
intersection_of: PATO:0001793  ! right side of
intersection_of: inheres_in UBERON:0001443 ! chest
intersection_of: towards UBERON:0000948 ! heart

or

[Term]
id: HP:0001651
name: Dextrocardia
namespace: human_phenotype
def: "The heart is located in the right hand sided hemithorax. That is, there 
is a left-right reversal (or \"mirror reflection\") of the anatomical location 
of the heart in which the heart is locate on the right side instead of the 
left." [DDD:dbrown, HPO:sdoelken]
synonym: "Thoracic situs inversus" EXACT []
xref: EPCC:02.01.02
xref: ICD-10:Q24.0
xref: MeSH:D003914
xref: UMLS:C0011813
is_a: HP:0004307  ! Abnormal anatomic location of the heart
intersection_of: PATO:0001793  ! right side of
intersection_of: inheres_in FMA:7088 ! Heart
intersection_of: towards FMA:9576 ! Thorax

Contrast this with the ZP owl expression.

3 very different ways of saying pretty much the same thing

Original comment by cmung...@gmail.com on 12 Nov 2013 at 9:17