Val Wood
Diseases have MONDO IDs, but associations are missing from Monarch SPCC1281.06c ole1 .0001 DEAFNESS, AUTOSOMAL DOMINANT 79 (1 family) (SCD5) MONDO:0033668 SPBC211.03c gea1 .0004 CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2GG (GBF1)...
**Mondo term (ID and Label)** hereditary neoplastic syndrome (MONDO:0015356) is not a descendant of neoplastic syndrome is there a reason for that?
HEATR3 PMID: 35213692 MONDO:0015253 "Our study uncovers a new pathophysiological mechanism leading to DBA driven by biallelic HEATR3 variants and the destabilization of a nuclear import protein important for ribosome...
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...
**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 @cmdcolin We had a PomBase user ask for "summary statistics" for a region (e.g. number of genes, origins, GC content or whatever). Is this something that JBrowse might provide...
GO:0001193 maintenance of transcriptional fidelity during transcription elongation by RNA polymerase II has 5 EXP annotations to 2 GPfrom SGD. This term seems like a combination of a MF +...
It seems that this term has been made narrower in scope. The term processing refers to the production of a mature transcript. but the definition includes "MAy also include amplification...
rRNA 3'end processing and Sno(s) 3'end processing are descendants