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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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review DOID:0060944 #1325

Closed tutajm closed 1 month ago

tutajm commented 1 month ago

In the release from Apr 30, 2024, there is a new term DOID:0060944 [Ullrich congenital muscular dystrophy 2], xref OMIM:616470. (And that's good! New terms covering new OMIM ids from OMIM are always welcome)

However, in the previous release(s), DOID:0060944 was associated with term [episodic kinesigenic dyskinesia 3], xref: OMIM:620245

In other words: is there a reason why the disease [episodic kinesigenic dyskinesia 3] mysteriously disappeared from DO ontology?

lschriml commented 1 month ago

Thank you for the heads up Marek. We are reviewing and will have this resolved shortly. Cheers, Lynn

csbjohnson commented 1 month ago

Hi @tutajm,

Thank you for the update. Episodic kinesigenic dyskinesia 3 has been reincorporated under DOID:0060944 in the Disease Ontology, as well as a new DOID:0060948 for Ullrich congenital muscular dystrophy 2 entry.

These updates will be reflected in the next Disease Ontology release. If you require access to the data sooner, please let us, and we can arrange an earlier release.

Best, Claudia Marie Sánchez-Beato Johnson