search

DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
Creative Commons Zero v1.0 Universal
329 stars 108 forks source link

OMIM has split Nemaline Myopathy 5 into 3 subtypes #1206

Closed sbello closed 1 year ago

sbello commented 1 year ago

OMIM has split nemaline myopathy 5 into 3 subtypes

Existing DO term DOID:0110936 has a definition that covers 5A and 5B (both recessive forms with mutations in TNNT1) but does not cover 5C (dominant form).

Consider adding new terms for the subtypes OMIM IDs

Existing Do term could be relabeled as autosomal recessive nemaline myopathy 5 and used as the parent term for the 2 recessive subtypes. Difference between 5A and 5B is age of onset and severity. I think for model organisms retaining the recessive onset neutral parent would be helpful.

lschriml commented 1 year ago

Thank you Sue, I will take a look and get the integrated. Cheers, Lynn

lschriml commented 1 year ago

Done

allenbaron commented 11 months ago

The diseases 'nemaline myopathy 5B' and 'nemaline myopathy 5C' were accidentally added in the June 2023 release (v2023-06-29) with duplicate IRIs matching historically obsoleted diseases, and these errors persisted in the July releases (v2023-07-20 & v2023-07-24). We have deleted those IRIs and re-created these diseases with new, unique IRIs in the latest release v2023-08-08. If you have used these diseases with their duplicate IRIs, please update to the new, unique IRIs.

disease incorrect, duplicate IRI new, unique IRI
nemaline myopathy 5B http://purl.obolibrary.org/obo/DOID_0080003 http://purl.obolibrary.org/obo/DOID_0081374
nemaline myopathy 5C http://purl.obolibrary.org/obo/DOID_0080004 http://purl.obolibrary.org/obo/DOID_0081375

We apologize for any inconvenience this may cause.