Comments (2)
Hi Dylan, @drobbarfield, thank you for your request on updating UMLS refs. We will review it and get back to you soon.
Best,
Claudia Marie Sánchez-Beato Johnson
from humandiseaseontology.
Thanks @drobbarfield for sharing these with us. DO's mappings to UMLS are primarily automated based on mappings from other vocabularies, such as MeSH and NCI. These don't always agree with one another. As I review various mappings, I'm going to add supporting notes for future reference.
The Lynch syndrome example probably lost the UMLS xref to Lynch syndrome because of complex and confusing mappings of UMLS to MeSH, NCI, and Orphanet... and lack of mappings to OMIM phenotypic series (or the DO). NCI and Orphanet have two distinct terms with a parent-child relationship that are using disease names which, in clinical practice, have mostly become synonymous (Lynch syndrome and HNPCC), while the MeSH term correctly has both names, but is linked to 4 separate UMLS entities. I'm adding back the lost UMLS mapping you shared and updating the current UMLS mappings to indicate they are actually broad matches and should not be included as xrefs.
from humandiseaseontology.
Related Issues (20)
- Some upper respiratory diseases are not classified as infectious diseases HOT 5
- Add xref to DOID:1440 HOT 1
- Revise tuberculosis (DOID:399) branch
- GLUT1 DEFICIENCY SYNDROME 1 HOT 2
- Distinguish or merge 'childhood absence epilepsy' and 'early onset absence epilepsy'
- Consider revising and adding grouping terms for paroxysmal dyskinesias
- Review and add carbohydrate transport diseases HOT 2
- Mosaic variegated aneuploidy syndrome subtypes HOT 1
- NTR: RNA exosomopathy HOT 6
- Sitosterolemia subtypes
- Potential review of classification(s) for autosomal recessive cerebellar ataxias HOT 1
- Add term for Distal duplication 11q HOT 6
- Consider merging DOID:0110578 and DOID:0110546 HOT 1
- anterior horn cell disease (DOID:4873) HOT 3
- purine-pyrimidine metabolic disorder (DOID:653) HOT 3
- Review polycystic kidney diseases and annotated data
- Consider merging 'iridogoniodysgenesis syndrome' and 'anterior segment dysgenesis'
- New Term Request: digenic dyskeratosis congenita
- invalid KEGG Xrefs HOT 2
- Polydactyly, preaxial subtypes
Recommend Projects
-
React
A declarative, efficient, and flexible JavaScript library for building user interfaces.
-
Vue.js
🖖 Vue.js is a progressive, incrementally-adoptable JavaScript framework for building UI on the web.
-
Typescript
TypeScript is a superset of JavaScript that compiles to clean JavaScript output.
-
TensorFlow
An Open Source Machine Learning Framework for Everyone
-
Django
The Web framework for perfectionists with deadlines.
-
Laravel
A PHP framework for web artisans
-
D3
Bring data to life with SVG, Canvas and HTML. 📊📈🎉
-
Recommend Topics
-
javascript
JavaScript (JS) is a lightweight interpreted programming language with first-class functions.
-
web
Some thing interesting about web. New door for the world.
-
server
A server is a program made to process requests and deliver data to clients.
-
Machine learning
Machine learning is a way of modeling and interpreting data that allows a piece of software to respond intelligently.
-
Visualization
Some thing interesting about visualization, use data art
-
Game
Some thing interesting about game, make everyone happy.
Recommend Org
-
Facebook
We are working to build community through open source technology. NB: members must have two-factor auth.
-
Microsoft
Open source projects and samples from Microsoft.
-
Google
Google ❤️ Open Source for everyone.
-
Alibaba
Alibaba Open Source for everyone
-
D3
Data-Driven Documents codes.
-
Tencent
China tencent open source team.
from humandiseaseontology.