mondo
mondo copied to clipboard
monarch-initiative
Mondo Disease Ontology
See also #3452. compare: ``` id: MONDO:0043452 name: chromosome 8, trisomy def: "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." [NCIT:C36396]...
**Bug/Typo/Error description** - Using Google Chrome, when you navigate to https://github.com/monarch-initiative/mondo and click on our OBO link, http://purl.obolibrary.org/obo/mondo.obo there is no redirect or file being downloaded. - However, I can...
**Mondo term (ID and Label)** diffuse intrinsic pontine glioma **Synonym to be added** diffuse midline glioma **Synonym subtype: ie, broad/exact/narrow/related** related **Database cross reference for the synonym** Such as PubMed...
**Mondo term (ID and Label):** MONDO:0011291 Congenital disorder of glycosylation type 1C **Suggested new label:** ALG6-CDG1C **Your nano-attribution (ORCID)** If you don't have an ORCID, you can sign up for...
**Mondo term (ID Label)** MFOMD_0000004 MONDO_5084 **Bug/Typo/Error description** They seem to share label (as well as other 12 pairs in MONDO import closure). Not a domain expert, so not advising...
What is the difference between `xrefs` for a Mondo disease term and the `basicPropertyValues` field with `"pred" : "http://www.w3.org/2004/02/skos/core#exactMatch"`? I have looked in the FAQs and documentation, but did not...
**Mondo term (ID and Label):** MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome **Xref that should be fixed (ID and label):** Delete OMIM:153480 from exact match https://omim.org/entry/153480 ^ 153480 MOVED TO [158350](https://www.omim.org/entry/158350) (GARD, OrphaNet and...
**Mondo term (ID and Label):** facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion (MONDO:0017283) **Suggested new label:** DeSanto-Shinawi Syndrome due to 10p11.21p12.31 microdeletions (MONDO:0017283) **Your nano-attribution (ORCID)** This relabel...
**Preferred term label:** Body-stalk anomaly **Synonyms** **Definition (free text, please give PubMed ID, if applicable, in format PMID:#######)** Body stalk anomaly (BSA) is a very rare anomaly (1 in 14,000...
**Mondo term (ID and Label):** WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome (MONDO:0018760) **Suggested new label:** DeSanto-Shinawi syndrome (MONDO:0018760) **Your nano-attribution (ORCID)** This relabel is requested by the ClinGen ID/Autism GCEP:...