progressive supranuclear palsy SCTID

[kanems]

Mondo term (ID and Label): MONDO:0019037 progressive supranuclear palsy

Xref that should be fixed (ID and label): SCTID:28978003 (Actually maps to "Progressive supranuclear ophthalmoplegia," per UMLS's representation of SNOMED. Is this the same as MONDO:0020257 "supranuclear oculomotor palsy"??) SNOMED code for "progressive supranuclear palsy" (again, per UMLS's SNOMED map) is 192976002

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Other comments: This needs additional clinical review before making any changes. I am relying heavily on simple string matching, UMLS's mapping of the SCTIDs and hierarchies, and limited clinical descriptions provided in Metathesaurus and on Mondo.

[sabrinatoro]

Hello @kanems I'm Sabrina, a new curator who recently joined the Mondo team. We will address your issue as soon as possible. Thank you for your patience. If this is a high priority, please let me know and we can prioritize it. Thank you!

[nicolevasilevsky]

this means you have some issue with moving your eyes. Progressive supranuclear ophthalmoplegia is a phenotype, there is a record in OMIM because there is a gene associated with this.

• [x] 'progressive supranuclear palsy' is incorrectly classified as a genetic disease, should remove those superclasses. Exclude 'genetic dementia' and 'inherited neurodegenerative disorder'
• [ ] check if Steele-Richardson-Olszewski syndrome is a synonym on generic form or type 1
• [x] change SCTID xref to "progressive supranuclear palsy" SCTID:192976002

[pnrobinson]

@ahamosh OMIM has progressive supranuclear palsy and lists STEELE-RICHARDSON-OLSZEWSKI SYNDROME as a synonym, but other literature appears to regard the latter as an idiopathic non Mendelian disease , e.g., https://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2013;volume=6;issue=3;spage=342;epage=345;aulast=Gokhale;type=3 Should we introduce some superclass for diseases that are primarily characterized by SNOP and then have two subclasses Mendelian SNOP and Complex SNOP (or something like that). Also the above cited article appears to further subdivide STEELE-RICHARDSON-OLSZEWSKI SYNDROME

[nicolevasilevsky]

Steele-Richardson-Olszewski disease may refer to all three subtypes, OMIM used this as an alternative name for only one subtype. There is not a PS. OMIM should create a PS.

Steele-Richardson-Olszewski disease should be an exact synonym for MONDO:0019037 'progressive supranuclear palsy'. and this should be equiv to OMIMPS when it is created.