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Orphanet has the following organization for paroxysmal dyskinesias:
.
@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.
The text was updated successfully, but these errors were encountered:
Orphanet has the following organization for paroxysmal dyskinesias:
.
@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
The text was updated successfully, but these errors were encountered: