search

nvaldivi / ogms

Automatically exported from code.google.com/p/ogms
0 stars 0 forks source link

genetic predisposition to disease of type x #6

Closed GoogleCodeExporter closed 8 years ago

GoogleCodeExporter commented 8 years ago 
Peter Robinson says:
>5) Genetic Predisposition to Disease of Type X =def.
>A predisposition to disease of type X whose
>physical basis is a constitutional abnormality in an
>organisms genome.
>==>> There are many genetic diseases in which affected people show
>no abnormalities at birth but will nearly determinisitically develop
>disease features over the course of time. The definition given here
>works pretty well for familial cancer syndromes but not so well for
>things like neurofibromatosis or Marfan syndrome.

Original issue reported on code.google.com by albertgo...@gmail.com on 27 Jul 2009 at 3:41

GoogleCodeExporter commented 8 years ago 
The definitions do not require that the disease manifest at all times or even 
right
away.  The person has the disposition/disease at birth, even if the 
manifestation of
the disease does not occur until later in life.  Perhaps add this clarification 
to
expository text somewhere in the ontology.

Original comment by hoga...@gmail.com on 2 Aug 2009 at 11:27

GoogleCodeExporter commented 8 years ago 
I agree with Bill.  A predisposition is a disposition and, as such, it can be 
borne
by a bearer without being realized.  A person can have a genetic disease without
"showing abnormalities".  A new issue has been opened to clarify by introducing 
a
general term 'predisposition', thus making it clear that these are 
bfo:dispositions.

Original comment by albertgo...@gmail.com on 20 Nov 2009 at 8:52