Closed cmungall closed 6 years ago
Possibly this syndrome does have some impact on reproduction, which is why it is sooo important for MONDO to define really well what the criteria are for the hierarchy. I do not think that any of the existing disease nosologies really do such a great job of it.
-Peter
Peter Robinson
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From: Chris Mungall notifications@github.com Sent: Sunday, October 1, 2017 7:46 AM To: monarch-initiative/monarch-disease-ontology Cc: Subscribed Subject: [monarch-initiative/monarch-disease-ontology] EFO classifies CERVICAL RIB as reproductive disease (#405)
[image]https://user-images.githubusercontent.com/50745/31054104-5c312b64-a6a3-11e7-89b6-e1c742e5255e.png
The DO xref is to an obsolete term (no replacement or reason given):
[Term] id: DOID:3102 name: cervical rib syndrome namespace: disease_ontology is_obsolete: true synonym: "Arterial thoracic outlet syndrome due to cervical rib" EXACT [SNOMEDCT_2005_07_31:413577001]
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On 2 Oct 2017, at 13:49, Peter Robinson wrote:
Possibly this syndrome does have some impact on reproduction, which is why it is sooo important for MONDO to define really well what the criteria are for the hierarchy. I do not think that any of the existing disease nosologies really do such a great job of it.
I think in this case this is simply a mistake, Sira can the EFO team comment?
Just mentioning @siiraa for comment.
The term was requested by Open Targets that recommended this classified as a reproductive system disease. Can modify/add better classification if someone can make a recommendation please?
PS. @cmungall can you please make me a collaborator so i can close the issue that has been resolved? Thank you :)
@siiraa - now a collaborator. But keep this open til we get to the bottom of it :-)
Would it be OK to check with the OT team what their reasoning was behind this classification? I don't like to overwrite in mondo if there was a good reason, but it seems very odd.
And also determine if they think it is the same as https://omim.org/entry/117900
This issue was moved to monarch-initiative/mondo#160
The DO xref is to an obsolete term (no replacement or reason given):