ASVD3 : MONDO:0010859 & MONDO:0800268/MONDO:0020290 [Merge]

monarch-initiative / mondo

Mondo Disease Ontology

http://obofoundry.org/ontology/mondo

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ASVD3 : MONDO:0010859 & MONDO:0800268/MONDO:0020290 [Merge] #6202

Open kanems opened 1 year ago

kanems commented 1 year ago

Mondo term (ID and Label) MONDO:0010859 atrioventricular septal defect 3

Reason for deprecation OMIM 600309 MOVED TO 606215

Term to be merged with MONDO:0800268 or MONDO:0020290 ? OMIM 606215 says "The symbol AVSD3 previously referred to a form of AVSD caused by mutation in the GJA1 gene (121014)." So I don't know if ASVD susceptibility or ASVD is the 'merged' concept that the OMIM record should be mapped to... @ahamosh ?

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nicolevasilevsky commented 1 year ago

note to self, double check this before proceeding

ahamosh commented 1 year ago

Hi Nicole, I am confused by the question. AVSD3 went away because it was based on one paper in 2001 and hasn't been replicated since. The variant is now a variant of unknown significance. Probably all the AVSDs should be susceptibilities. I will check with Joanna why 2 are and one is not...

nicolevasilevsky commented 1 year ago

@kanems @ahamosh I will obsolete AVSD3 for now. @ahamosh please let me know if we should move the PS (https://omim.org/phenotypicSeries/PS606215) to inherited disease susceptibility in Mondo.