Closed pnrobinson closed 5 years ago
Yes, if they are in the brain they are, but heterotopic tissue can be present in / and consist of other tissue.
If these could potentially be confusing, we could go for gray matter heterotopia as the main term, but this term is not in use by our expert netwerk.
And these heterotopia in Chudley-mccullough Syndrome are not nodular.
"Another annotated disease is FraX sundrome, which currently is annotated to Periventricular heterotopia in OMIM." > you don't need to change it.
Yes, because heterotopia can also be present in other organs/ tissues this is potentially confusing
Gray matter heterotopia are the same as neuronal heterotopia. Both terms can be used, I would prefer gray matter heterotopia, it is a bit more common and also more understandable to the lay.
I notice that the english vs american differs in the spelling of the word grey/ gray. Should we add both terms?
merged these two. Also added the British spelling
Related to https://github.com/obophenotype/human-phenotype-ontology/issues/4382 Renske, are you basically say that "Gray matter heterotopia" is a synonym for "Heteropia"?
On of the annotated diseases is Chudley-mccullough Syndrome. According to COST:neuromig, this disease is characterized by Mesial parasagittal subcortical heterotopia. (The current OMIM annotation is Subcortical nodular gray matter heterotopia). Another annotated disease is FraX sundrome, which currently is annotated to Periventricular heterotopia in OMIM. We should revise all of these annotations in light of the new terms.