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DiseaseOntology / HumanDiseaseOntology

Repository for the Human Disease Ontology.
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Update to distal hereditary motor neuronopathy in OMIM #1257

Closed sbello closed 5 months ago

sbello commented 8 months ago

Is your request related to a specific disease? Please describe. distal hereditary motor neuronopathy OMIM has done an update to distal hereditary motor neuronopathy that affects multiple sets of terms in DO falling under DOID:0111198 and DOID:0111197. Terms have been renames and renumbered in ways that I think alter the current organization. Also there are a some entries in OMIM that have not yet been added to DO. Terms are listed on the OMIM updates spreadsheet.

lschriml commented 8 months ago

Thank you Sue !!

lschriml commented 8 months ago

distal hereditary motor neuronopathy

DOID:0111198 | autosomal dominant distal hereditary motor neuronopathy

DOID:0111200 | distal hereditary motor neuronopathy type 1 DOID:0111206 | distal hereditary motor neuronopathy type 2 DOID:0111208 | distal hereditary motor neuronopathy type 2A DOID:0111208 | distal hereditary motor neuronopathy type 2B DOID:0111209 | distal hereditary motor neuronopathy type 2C DOID:0111210 | distal hereditary motor neuronopathy type 2D

DOID:0111203 | distal hereditary motor neuronopathy type 5 DOID:0111204 | distal hereditary motor neuronopathy type 5A DOID:0111205 | distal hereditary motor neuronopathy type 5B

DOID:0111199 | distal hereditary motor neuronopathy type 7 DOID:0111201 | distal hereditary motor neuronopathy type 7A DOID:0111202 | distal hereditary motor neuronopathy type 7B DOID:0111215 | distal hereditary motor neuronopathy type 8 DOID:0111212 | distal hereditary motor neuronopathy type 9

DOID:0111197 | autosomal recessive distal hereditary motor neuronopathy DOID:0111064 | distal spinal muscular atrophy 1 DOID:0111065 | distal spinal muscular atrophy 2 DOID:0111211 | distal spinal muscular atrophy type 3 DOID:0111213 | distal spinal muscular atrophy type 4 DOID:0111214 | distal spinal muscular atrophy type 5

lschriml commented 5 months ago

Looking at: PS182960 DOID:0111198 | autosomal dominant distal hereditary motor neuronopathy -- DO has subtypes 1-14: -- looking at OMIM: the OMIM IDs in the DO match the disease name and OMIM IDs in OMIM -- new subtypes were previously added. DO has all of the OMIM subtypes now

Looking at: PS604320 DOID:0111197 | autosomal recessive distal hereditary motor neuronopathy -- DO has 5 subtypes -- checking alignment of DOID, OMIM ID, disease name -- updating disease name to match OMIM names -- adding in subtypes 6-10

Updates for this ticket are now complete. The new terms will be available in our January 2024 release this week. Cheers, Lynn