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monarch-initiative
Mondo Disease Ontology
Probably needs some discussions.. This adds checks for cases where we have - multiple conflicting source annotations - no source annotations Here are the current failures: https://docs.google.com/spreadsheets/d/10wrrwp0ewtN30MwKjG6KBgV7oQMuLpkqAuL9Xs7WSvw/edit#gid=0 @nicolevasilevsky I think...
From Adriana/MedGen (email: MedGen reports on CUI conflicts with Mondo data) Medgen serves the clinical community by enabling discovery of phenotype information and it also serves as the phenotype backbone...
example: primary bone dysplasia should likely be classified as Mendelian this has many descendants: ``` runoak -i db/mondo.db descendants MONDO:0018230 -p i | wc 444 2569 23922 ``` most of...
What is the difference between premature aging syndrome MONDO:0019303 and a progeroid syndrome MONDO:0015333 the only difference I have annotation wise are to de Barsy syndrome (MONDO:0017569) but this is...
Many terms MONDO:0013519 A dyskeratosis congenita that has_material_basis_in an autosomal recessive mutation of NOLA2 on chromosome 5q35.3. NOLA2 = NHP2 MONDO:0009136 Definition A dyskeratosis congenita that has_material_basis_in an autosomal dominant...
Hi, The last Mondo release included updated OMIM and Orphanet ingest (see https://github.com/monarch-initiative/mondo/issues/1283). Looking at the list of new classes in https://github.com/monarch-initiative/mondo/releases/tag/v2020-04-29, I noticed that some, but not all, of...
**Mondo term (ID and Label)** follow on from https://github.com/monarch-initiative/mondo/issues/3193 **Suggested revision and reasons** also these : ataxia and polyneuropathy, adult-onset (MONDO:0010781) PCNA-related progressive neurodegenerative photosensitivy syndrome (MONDO:0014399 spinocerebellar ataxia, autosomal...
Hi, from an analysis of FAERS data, we have obtained a list of 1,770 MedDRA to MONDO mappings that we believe have a very high level of confidence: [meddra-mondo-xref-0995-1.json.zip](https://github.com/monarch-initiative/mondo/files/6585882/meddra-mondo-xref-0995-1.json.zip) This...
NV to do: _updated 02/10/22_ I need to write out concrete action items for Nico to work on this.
I am wondering about MONDO:0007264, "sudden cardiac arrest." The cross references map to multiple things: "sudden cardiac death" (SCTID:95281009), "cardiac conduction disorder" or defect NCIT: C78245 & OMIM 115080. Should...