Re: [Obo-human-phenotype] coxa plana and legg-perthes

[Chris M. <CJM...@lb...>]

I normally put clear-cut requests straight in the tracker. I think this is a complicated one requiring a threaded discussion possibly resulting in multiple requests in multiple trackers (DO, HP, FMA, ....). No rush though, can wait til you're back.

On Jan 30, 2011, at 4:21 AM, Robinson, Peter wrote:

> Chris,
> you are right, this needs to be cleaned up.
> I am at a meeting in Atlanta till Wednesday and I will fix this after that. Could I ask you to put this comment on the HPO tracker (See our home page for the link).
> thanks Peter
> 
> 
> PD Dr. med. Peter N. Robinson, MSc.
> Institut für Medizinische Genetik
> Charité - Universitätsmedizin Berlin
> Augustenburger Platz 1
> 13353 Berlin
> Germany
> +4930 450566042
> pet...@ch...
> http://compbio.charite.de
> http://www.human-phenotype-ontology.org
> ________________________________________
> Von: Chris Mungall [CJM...@lb...]
> Gesendet: Sonntag, 30. Januar 2011 00:10
> An: c   obo...@li...
> Betreff: [Obo-human-phenotype] coxa plana and legg-perthes
> 
> There's a little bit of OMIM/HP overlap here, and based on existing definitions and synonyms it's not clear how this should be resoved.
> 
> HP:0003280 "Coxa plana" has no definition.
> 
> the parent term HP:0003272 "Abnormality of the hip" has computational definition as being a quality of FMA:24964 "Hip"
> - however, the text def says "hip **joint or the surrounding anatomic region**", which is more consistent with its parentage in abnormality of the joints
> 
> We also have:
> HP:0010887 "Legg-Calve-Perthes syndrome" -- "A specific form of `Juvenile aseptic necrosis` (HP:0100323), Perthes disease causes avascular necrosis of the femoral head."
> 
> Many sources treat Legg-Perthes as synonymous with coxa plana - it's not clear if HP intentionally or accidentally treats these as distinct entities.
> 
> There is an OMIM record for MIM:150600 "Legg-Calves-Perthes disease". We have associations between this and HP:0003280 ! Coxa plana, but _not_ the (trivial but useful) link between this and HP:0010887 ! Legg-Calve-Perthes syndrome.
> 
> 
> Requests/recommendations:
> 
> * Can we consider renaming HP:0003272 "Abnormality of the hip" to something that better reflects its meaning? Or at least addition of synonyms?
> 
> * We need a concurrent change to the computable def of the same term.  FMA:35178 "Hip joint" [SYNONYM: "Articulatio coxofemoralis" (exact)] is better, but not good enough if we need to capture the (vague) "and surrounding area". Maybe it's better to explicitly enumerate what is included and what is not. This should be clear as to whether the femoral head is excluded or included.
> 
> * Can we add HP:0010887 "Legg-Calve-Perthes syndrome"  to the set of annotations for MIM:150600 "Legg-Calve-Perthes disease" ?
> 
> * consider adding a term "avascular necrosis of the femoral head", defined as a HP:0010885 "Aseptic necrosis" that affects the FMA:32851 "Head of femur"
>  alternatively, consider simply replacing the label and definition of HP:0010887 with this, and retaining "Legg-Calves-Perthes" as a synonym - this avoids the duplication between OMIM and HP
>  (note there is also OMIM:608805, "avascular necrosis of femoral head, primary")
> 
> * add a def for coxa plana; some sources suggest:
>          flattening of the head of the femur resulting from osteochondrosis of its epiphysis.
>        or
>          osteochondrosis of the capitular epiphysis of the femur
>  alternatively, merge with HP:0010887
> 
> 
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