-
**Preferred gene-related syndrome label**
Neurocutaneous Syndrome
Could be a useful lgrouping term for [CEDNIK syndrome](https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.ob…
-
Sci-Walker open data on BigQuery is super cool! This is the first issue on this repo, so let me know if this is the right place for this kind of question?
Just starting to look into all the informa…
-
http://www.amc.seoul.kr/asan/healthinfo/disease/diseaseDetail.do?contentId=31904
> 증상
> 길랑-바레 증후군에 걸리면 갑자기 다리 힘이 약해지거나 움직이지 못하고 통증이 생기는 증상이 나타납니다. 이러한 증상이 나타나기 1~3주 전에 감염이나 위장 관계 감염 등과 같은 질병에 노출됩니…
-
Kallmann syndrome - http://beta.monarchinitiative.org/disease/MESH%3AD017436
Source link - http://www.nlm.nih.gov/cgi/mesh/2005/MB_cgi?mode=&term=D017436, leads to a 404.
-
Will you consider Torg-Winchester syndrome, Winchester syndrome and nodulosis-arthropathy-osteolysis (NAO) syndromes as "synonyms" or as "subdivisions" of the multicentric osteolysis-nodulosis-arthro…
-
Hello!
For some reasons i was unable to install library properly: it says that "lib_SyndromeDecodingEstimator.so: cannot open shared object file: No such file or directory"
-
@sabrinatoro this is not high priority, but when you have a chance, could you review the term MONDO:0016537 'lymphoproliferative syndrome'
The xrefs are:
xref: DOID:0060704 {source="MONDO:equivale…
-
This issue is to suggest that we extend ROBOKOP to support multi-CURIE queries, with both AND and OR operations available. You all likely are planning this as part of the Translator work, but we will …
-
Based on https://github.com/monarch-initiative/mondo/pull/7681#issuecomment-2099034928
Some obsolete classes have exact mappings to the orphanet:disorder.
We should review these obsoleted terms a…
-
I was reviewing the [ICD11 "lex" file](https://github.com/monarch-initiative/mondo-ingest/blob/main/src/ontology/lexmatch/unmapped_icd11foundation_lex.tsv) and there are 4 exact matches where the subj…