Re: [Obo-human-phenotype] Epiphysis and epiphyseal plate

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> The following is an explanation for the following question on the tracker.
> There was a question whether the following PATO definition is correct.
>
> [Term]
> id: HP:0004012 ! Fused radial epiphyseal plates
> intersection_of: PATO:0000642 ! fused with
> intersection_of: OBO_REL:inheres_in FMA:33770 ! Epiphysis of radius
>
> But this is problematic on a number of levels:
>
> * fused with what?
>
> * is epiphysis and epiphyseal plate synonymous? FMA, MA and Wikipedia all
> don't think so.

If an epiphyseal plate is supposed to be only the area of cartilage, and
the epiphysis the hole region that appears on x-rays meaning cartilage and
surrounding growth area - then epiphysis would definitely include the
epiphyseal plate in which case it would be better for almost any
description to use the term epiphysis instead.

>
> So maybe this is better:
>
> [Term]
> id: HP:0004012 ! Fused radial epiphyseal plates
> intersection_of: PATO:0000642 ! fused with
> intersection_of: OBO_REL:inheres_in FMA:34354 ! Epiphyseal plate of radius

I think this term is the result of a spelling mistake in the
Publikation/OMIM. It doesn't make sense for the epiphyseal plate beeing
fused with itself or even the epiphysis because I don't think you could
see the fusion of epiphysis and epiphysal plate even on X-ray.

> unfortunately there is no link between Epiphyseal plate and epiphysis in
> FMA, so we can't recapitulate the HP hierarchy from HP-XP and FMA...
>
>
>
> ==>> Long bones (such as the femur or the humerus) have a structure that
> is defined in relation to a transverse cartilage plate that is present in
> growing bone (i.e., in childhood). This plate is termed the
> physis (synonyms=epiphyseal cartilage plate and growth plate). The terms
> "epiphysis" (area of bone above the physis, i.e., on the joint side of the
> epiphyseal cartilage), "metaphysis" (Non-joint side of the epiphyseal
> cartilage plate, where the bone tends to have a fluted or funnel shape),
> and "diaphysis" (the body or shaft of the bone) are thus defined in
> relation to the physis.
>
>
> Therefore, epiphyseal (cartilage) plate is NOT the same thing as
> epiphysis.
>
> I am still left wondering what this term is supposed to mean, because I
> cannot find any annotation to "Fused radial epiphyseal plates" or to its
> child medially fused epiphyseal growth plates. Since the fusion of the
> epiphyseal plate occurs normally with maturation of the skeleton, the
> "abnormal" aspect of this needs to be defined better. Stefan or Sandra, do
> you know of any skeletal diseases characterized say by "premature fusion
> of the radial epiphyseal cartilage plate"? If not, then I would say that
> these two HPO terms are probably erroneous and should be made obsolete.

I think this could be one of the not very precice terms. The disease
MIM-607778_Acrocapitofemoral dysplasia is describd in the literature as
having "premature epimetaphyseal fusion":

[Varus deformity of the tibiae with proximal and distal premature
epimetaphyseal fusion is most likely the result of cone-shaped epiphyses.]
(see attached Publication)

"Fused radial epiphyseal plates" probably refers to "premature
epimetaphyseal fusion of the epiphyses of the radius"

_Sandra

>
> -peter
>
>
>
>
>
> --
> Dr. med. Peter N. Robinson, MSc.
> Institut für Medizinische Genetik
> Charité - Universitätsmedizin Berlin
> Augustenburger Platz 1
> 13353 Berlin
> Germany
> +4930 450569124
> pet...@ch...
> http://compbio.charite.de
> http://www.human-phenotype-ontology.org
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Dr. med. Sandra Dölken
Charité Universitätsmedizin Berlin
Campus Virchow Klinikum
Institut für Medizinische Genetik
Augustenburger Platz 1
13353 Berlin
Germany
phone: +49(0)30 450 569 132
fax: +49(0)30 450 569 914
email: san...@ch...
http://genetik.charite.de/institut/