Skip to content
New issue

Have a question about this project? Sign up for a free GitHub account to open an issue and contact its maintainers and the community.

By clicking “Sign up for GitHub”, you agree to our terms of service and privacy statement. We’ll occasionally send you account related emails.

Already on GitHub? Sign in to your account

Consider revising and adding grouping terms for paroxysmal dyskinesias #1361

Open
4 tasks
allenbaron opened this issue Jul 11, 2024 · 0 comments
Open
4 tasks
Assignees

Comments

@allenbaron
Copy link
Collaborator

Orphanet has the following organization for paroxysmal dyskinesias:

image.

@lschriml what do you think about adding a similar structure to group diseases in the DO?
Feel free to reassign this issue to me after answering if you don't have time to work on it.

Currently in the DO

DO has 3 each of episodic kinesigenic dyskinesias (also now has an OMIM phenotypic series, MIM:PS128200) and paroxysmal nonkinesigenic dyskinesias (no OMIM PS).

It also has an equivalent to Orphanet's 'Paroxysmal exertion-induced dyskinesia' labelled 'childhood-onset GLUT1 deficiency syndrome 2' (DOID:0090045; also related to disease requested in #1359).

Other suggested modifications

  • Add a disease matching Orphanet's 'Infantile convulsions and choreoathetosis' (ORDO:31709, MIM:602066). It does not have subtypes.
  • Update definitions
  • Update cross-references
  • Change the label of DOID:0090045 to 'paroxysmal exertion-induced dyskinesia' or add it as a synonym.
Sign up for free to join this conversation on GitHub. Already have an account? Sign in to comment
Labels
None yet
Projects
None yet
Development

No branches or pull requests

2 participants