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[IFT140-related recessive ciliopathy/IFT140]

1

**Preferred gene-related syndrome label** IFT140-related recessive ciliopathy **Synonyms** Narrow synonym #1 = short-rib thoracic dysplasia 9 with or without polydactyly (MONDO:0009964) Narrow synonym #2 = retinitis pigmentosa 80 (MONDO:0054708) **Parent...

wchankey

Addresses #5271

sabrinatoro

Update exclusion reasons in Mondo

1

Excluded terms and exclusion reasons were reviewed as part of https://github.com/monarch-initiative/mondo-ingest/issues/45#event-7074414191. As a result, - some Mondo:obsolete terms need to get an updated exclusion-reason - some terms that were originally...

sabrinatoro

The enum file (https://github.com/monarch-initiative/mondo/blob/master/src/schema/mondo.yaml) should be updated to add the updated exclusion reasons. The exclusion reasons can be found [here](https://docs.google.com/spreadsheets/d/18V-_j4b22LzCytxFEM3pBEl6-_ODJY06gpUwH0F6JVY/edit#gid=1644570180) and [here](https://mondo.readthedocs.io/en/latest/editors-guide/exclusion-reasons/)

sabrinatoro

**Mondo term (ID and Label):** MONDO:0005272 refractory anemia **Suggested new label:** myelodysplastic syndrome with single lineage dysplasia **_Optional_: Any additional information (like supporting evidence, PubMed ID, etc.)** The definition for...

lcdaugherty

This PR adds synonyms and definitions to Mondo terms that already exist, per Mattias and Christina's recommendation. Spreadsheet is [here](https://docs.google.com/spreadsheets/d/1Sz47Dk5TZvUh4xMEd6GqfHNqQcmI6BgW/edit#gid=1826738152). This is PR #1 out of 3. This is the...

nicolevasilevsky

Note: one term was added as a synonym for an existing term: Immunodeficiency, autosomal recessive due to ZNFX1 deficiency, I believe is equivalent to OMIM:619644 close #5261

nicolevasilevsky

Add a batch of new lung terms for Mattias and Christina. PR #2 of 3. ROBOT template is [here](https://docs.google.com/spreadsheets/d/1Sz47Dk5TZvUh4xMEd6GqfHNqQcmI6BgW/edit#gid=60981685). address #5261

nicolevasilevsky

Add canine part of NCIT

2

Is it possible to import the canine portion of NCIT? Would like to have this for a collaboration with veterinarians exploring translational medicine in cancer between humans and dogs -...

diatomsRcool

[NTR] New lung terms - from Mattias and Christina

9

Peter and I met with pulmonary experts Mattias and Christina. We'll add new lung terms from this [spreadsheet](https://docs.google.com/spreadsheets/d/1Sz47Dk5TZvUh4xMEd6GqfHNqQcmI6BgW/edit#gid=361015257). Related to #3026 cc @pnrobinson

nicolevasilevsky