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**Mondo term (ID and Label)**
MONDO:0035117 PUM1-associated developmental disability-ataxia-seizure syndrome
**Reason for deprecation**
Orpha is exact match to OMIM, per ORDO: http://www.orpha.ne…
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We need some classification of inheritance patterns, this should relate existing classes. Not sure which ontology or where this goes, but something like this:
inheritance pattern
--polygenic
--monoge…
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We merge diseases and phenotypes when the same term occurred in both MONDO and HP. But this isn't totally correct because diseases are not phenotypes (even if kinda they are). Sometimes for unclea…
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Right now if two classes are forced to not be subclasses in either direction, this mapping won't be depicted in any way in the output images.
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PomBase have made curated associations to MONDO terms.
It would be useful to also load instead all MONDO associations to human proteins.
We could use this query to cross-check our associations by …
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Dear all,
This issue compiles all the diseases from the unpublished USIDNET 2024 list for which MONDO codes have not yet been identified:
- The diseases listed below correspond to those marked in …
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for example see https://monarchinitiative.org/phenotype/HP:0000023
this is likely not a dipper bug but triaging here until we can investigate further
credit to @iimpulse for finding this
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This is likely a fix that will need to happen to cat_merge, which applies mapping, or to the gene_mapping repo to change the order there, but it seems reasonable to start with an issue in this repo as…
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ORDO uses predisposition to not susceptibility to. Investigate whether this term is used synonymously with susceptibility to in ORDO e.g. susceptibility to viral disease, and externally e/g/ in OMIM. …