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split term: Birt-Hogg-Dube syndrome #6518

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nicolevasilevsky opened this issue Jul 31, 2023 · 4 comments · Fixed by #6895
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split term: Birt-Hogg-Dube syndrome #6518

nicolevasilevsky opened this issue Jul 31, 2023 · 4 comments · Fixed by #6895
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on list Added to the obosletion or merge candidate list. split requests for term splits
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[obsolete] Decemb...

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@nicolevasilevsky
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Term to split:
MONDO:0007607 Birt-Hogg-Dube syndrome

Name for new terms: Note - when a term should be split, there should be 2+ new terms. Please list the new labels below.
Birt-Hogg-Dube syndrome, equiv to OMIMPS:135150
Birt-Hogg-Dube syndrome 1, equiv to OMIM:135150
@nicolevasilevsky nicolevasilevsky added the split requests for term splits label Jul 31, 2023
@nicolevasilevsky nicolevasilevsky self-assigned this Jul 31, 2023
@nicolevasilevsky nicolevasilevsky added this to the October release milestone Jul 31, 2023
@nicolevasilevsky nicolevasilevsky added the on list Added to the obosletion or merge candidate list. label Aug 1, 2023
@nicolevasilevsky nicolevasilevsky mentioned this issue Aug 1, 2023
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@nicolevasilevsky
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documentation describing the justification for this split is here:
https://mondo.readthedocs.io/en/latest/editors-guide/splitting-classes/#splitting-omim-phenotypic-series-ps-terms

@Sheng-An
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Sheng-An commented Aug 9, 2023

Two questions about this BHD issue.

  1. I learned that there will be 2 new terms created: MONDO:0800444 (Birt-Hogg-Dube syndrome), and MONDO:0800445 (Birt-Hogg-Dube syndrome 1). Is the MONDO:0800444 (Birt-Hogg-Dube syndrome) a parent class term and is MONDO:0800445 (Birt-Hogg-Dube syndrome 1) a child class term?
  2. Birt-Hogg-Dube syndrome 2 (BHD2), which is caused by the mutations in PRDM10, is in the OMIM (Phenotype
    MIM number: 620459). May BHD2 be added as well?

Thank you.

@sabrinatoro
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Thank you for your question @Sheng-An

  1. You are correct: MONDO:0800444 (Birt-Hogg-Dube syndrome) will be the parent class, and MONDO:0800445 (Birt-Hogg-Dube syndrome 1) will be the child class.
  2. Birt-Hogg-Dube syndrome 2 (BHD2) will also be added as a child class. It looks like this term is not in Mondo yet, therefore we will add it

Therefore, the ontology will look as follow:

  • Birt-Hogg-Dube syndrome (MONDO:0800444)
    • Birt-Hogg-Dube syndrome 1 (MONDO:0800445)
    • Birt-Hogg-Dube syndrome 2 (MONDO:#### TBD)

Please let us know if you have any other questions

@sabrinatoro sabrinatoro mentioned this issue Aug 9, 2023
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@Sheng-An
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Sheng-An commented Aug 9, 2023

Thank you for your response @sabrinatoro
The ontology for BHD (including BHD1 and BHD2) looks good.

nicolevasilevsky added a commit that referenced this issue Nov 21, 2023
@nicolevasilevsky
split Birt-Hogg-Dube syndrome
bb08b06 
close #6518
@nicolevasilevsky nicolevasilevsky mentioned this issue Nov 21, 2023
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nicolevasilevsky added a commit that referenced this issue Nov 27, 2023
@nicolevasilevsky
ready to merge: split Birt-Hogg-Dube syndrome (#6895)
ac07fae 
* split Birt-Hogg-Dube syndrome

close #6518

* exclude qc

* fix syn

* add MONDO:0800455 Birt-Hogg-Dube syndrome 2

* remove exclude from qc

* revise consider annotation
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on list Added to the obosletion or merge candidate list. split requests for term splits
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ready to merge: split Birt-Hogg-Dube syndrome monarch-initiative/mondo
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@nicolevasilevsky @sabrinatoro @Sheng-An