Pending ClinGen Feedback: Relabel colorectal cancer, hereditary nonpolyposis, type 2 - 8 - Githubissues

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Mondo Disease Ontology

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Pending ClinGen Feedback: Relabel colorectal cancer, hereditary nonpolyposis, type 2 - 8 #3963

Open nicolevasilevsky opened 2 years ago

nicolevasilevsky commented 2 years ago

Note: do not take action on this yet, it is pending feedback from Sharon Plon's expert panel

Relabel the following terms to Lynch syndrome 1 - 8.

MONDO_0018630 'hereditary nonpolyposis colon cancer'

MONDO_0007356 'Lynch syndrome 1' - ~also add gene (MSH2)~ done on PR #3974
MONDO_0012249 'colorectal cancer, hereditary nonpolyposis, type 2' (MHL1)
MONDO_0013699 'colorectal cancer, hereditary nonpolyposis, type 4' (PMS2)
MONDO_0013710 'colorectal cancer, hereditary nonpolyposis, type 5' (MSH6)
MONDO_0013695 'colorectal cancer, hereditary nonpolyposis, type 6' (TGFB2)
MONDO_0013725 'colorectal cancer, hereditary nonpolyposis, type 7' (MLH3)
MONDO_0013196 'colorectal cancer, hereditary nonpolyposis, type 8' (EPCAM)

nicolevasilevsky commented 2 years ago

related to #3962

nicolevasilevsky commented 1 year ago

@sabrinatoro reassigning to you, can you follow up on this?