EFO classifies CERVICAL RIB as reproductive disease

[cmungall]

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]

[pnrobinson]

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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The Jackson Laboratory for Genomic Medicine

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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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[cmungall]

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?

[jmcmurry]

Just mentioning @siiraa for comment.

[siiraa]

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 :)

[cmungall]

@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.

[cmungall]

And also determine if they think it is the same as https://omim.org/entry/117900

[nicolevasilevsky]

This issue was moved to monarch-initiative/mondo#160