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obophenotype / human-phenotype-ontology

Ontology for the description of human clinical features
http://obophenotype.github.io/human-phenotype-ontology/
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Suggestion to obsolete White matter neuronal heterotopia #4507

Closed pnrobinson closed 5 years ago

pnrobinson commented 5 years ago

Related to https://github.com/obophenotype/human-phenotype-ontology/issues/4382 I will ask our COST:neuromig colleagues about this, since I see that this term has been used for Vici syndrome https://www.ncbi.nlm.nih.gov/pubmed/10405446 and for a few other diseases, e.g.: https://www.ncbi.nlm.nih.gov/pubmed/9413276

Renske, if we want to obsolete this term, we will have to find a replacement and merge/reannotate. Can you let us know what the prefered way of classifying this kind of heterotopia is?

Renske-Oegema commented 5 years ago

the neuronal heterotopia always consist of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. However it is preffered to indicate more exact where the heterotopia are located , eg periventricular or subcortical. heterotopic neurons within the white matter are a pathology finding, and indicate single neurons or small clusters of neuron. this is a rather frequent finding but not sufficient to call it heterotopia. the heterotopia in Vici syndrome are poorly described in this paper("an abnormal cortical structure with an area of white matter neuronal heterotopia") without an mri image. this has not been described in other patients with vici syndrome. So this term is not specified anywhere.

pnrobinson commented 5 years ago

Hi Renske, I would like to add the remaining terms. Could you please take a look at the issues like this? Also, I would like to name this something like "Thick pachygyria" so that we do not have the detail of >10 mm in the term label. Would that be a good idea? https://github.com/obophenotype/human-phenotype-ontology/issues/4513

thanks Peter

Peter Robinson Professor and Donald A. Roux Chair, Genomics and Computational Biology The Jackson Laboratory for Genomic Medicine 860.837.2095 t | peter.robinson@jax.org | https://robinsongroup.github.io/ Peter Robinson

From: Renske-Oegema notifications@github.com Sent: Sunday, February 24, 2019 3:06 PM To: obophenotype/human-phenotype-ontology Cc: Peter Robinson; Author Subject: Re: [obophenotype/human-phenotype-ontology] Suggestion to obsolete White matter neuronal heterotopia (#4507)

the neuronal heterotopia always consist of grey matter within the white matter, and the term grey matter heterotopia is more frequently used. However it is preffered to indicate more exact where the heterotopia are located , eg periventricular or subcortical. heterotopic neurons within the white matter are a pathology finding, and indicate single neurons or small clusters of neuron. this is a rather frequent finding but not sufficient to call it heterotopia. the heterotopia in Vici syndrome are poorly described in this paper("an abnormal cortical structure with an area of white matter neuronal heterotopia") without an mri image. this has not been described in other patients with vici syndrome. So this term is not specified anywhere.

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pnrobinson commented 5 years ago

I will merge this term.