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frequency classes #56

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obophenotype-user opened this issue Aug 23, 2015 · 1 comment
Closed

frequency classes #56

obophenotype-user opened this issue Aug 23, 2015 · 1 comment
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@obophenotype-user
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Originally reported on Google Code with ID 55

we should create a proper mechanism to record frequency:

From the HPO annotation guidelines: A percentage value reflecting the frequency with
that the particular abnormality occurs in patients having the syndrome. Another possibility
is to specify the number n of patients that have this feature out of the m patients
investigated (n of m)

If exact data are not available, categories from the following table may also be used
for indicating the frequency of a phenotypic feature. As a rough guide, the HPO consortium
interprets the following categories as having roughly the following numerical meaning:


Description  Percent of patients 
very rare 1 %
rare    5 %
occasional 7.5 %
frequent 33 %
typical  50 % 
variable    ? (prob. 30%-70%)
common 75 %
hallmark  90 %
obligate  100 % 

Note that PATO has some frequency classes, but these refer to rates and not percentages.



Reported by [email protected] on 2014-09-13 04:41:24

@drseb
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drseb commented Mar 17, 2016

we have decided on a new standard together with orphanet. will put that on hpo-website soon:

Human-Phenotype-Ontology/Human-Phenotype-Ontology.github.io#2

@drseb drseb closed this as completed Mar 17, 2016
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