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[Revise subclass] pseudoxanthoma elasticum (inherited or acquired) #1015

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zoependlington opened this issue Dec 3, 2019 · 2 comments · Fixed by #1070
Closed

[Revise subclass] pseudoxanthoma elasticum (inherited or acquired) #1015

zoependlington opened this issue Dec 3, 2019 · 2 comments · Fixed by #1070

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@zoependlington
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Mondo term (ID and Label)
pseudoxanthoma elasticum (inherited or acquired) (MONDO:0024308)

Suggested revision and reasons
During EFO disease clean up, it was suggested that this should be a child of genetic disorder rather than integumentary system disease (or at least child of both). See: https://ghr.nlm.nih.gov/condition/pseudoxanthoma-elasticum and https://rarediseases.info.nih.gov/diseases/9643/pseudoxanthoma-elasticum.

EFO ticket: EBISPOT/efo#606

@nicolevasilevsky
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@zoependlington I added the superclass 'inherited genetic disease' (which is the term that replaced 'genetic disorder' but this caused unsatisfiable classes in the ontology, so I removed it.

Because the term is labeled 'inherited or acquired', I don't think it can be a child of 'inherited genetic disease'.

@cmungall
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cmungall commented Jan 5, 2020

I agree with @nicolevasilevsky.

See also #1046 and #1047

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3 participants