Term Review Request: distal hereditary motor neuronopathy type 2C

[vjenkinsFB]

DOID:0111209, distal hereditary motor neuronopathy type 2C, has the OMIM xref https://www.omim.org/entry/613376. Both of these name the same causal gene, HSPB3. However, OMIM calls it Neuronopathy, distal hereditary motor, autosomal dominant 4, which is a part of a larger phenotypic series.

Small request: could the OMIM name be added as a synonym? Currently it is not listed. Large request: could you determine whether you want to change the name of this disease (which may require renaming/restructuring other things) to the OMIM name or not?

Thank you!

[allenbaron]

Thanks Victoria. I'll ask Lynn to take a look at this request when she's available.

[lschriml]

autosomal dominant distal hereditary motor neuronopathy. (Add:PS182960)

Note: OMIM has updated the name for these subtypes, checking that the definitions are updated/revised, and OMIM IDs are correctly assigned to each subtype, updating disease names, adding OMIM synonyms.

distal hereditary motor neuronopathy type 1 (OMIM:182960) ,2,

**distal hereditary motor neuronopathy type 2** [DOID:0111206]
    --> OMIM:158590; was previously associated with type 2A,
                     it is now assigned to type 2; with synonym: type 2A 
      --> updated definition based on Orphaned
      --> disease name updated to: distal autosomal dominant distal hereditary
                    motor neuronopathy 2
      --> Checked, MESH and Orphaned xrefs are for type 2
      --> this OMIM ID, OMIM:158590, was previously associated with 
                distal hereditary motor neuronopathy type 2A [DOID:0111208]
           --> the 2 A-D subtypes no longer exist in OMIM as separate subtypes.
                 -- type 2A was merged into type 2
          Thus: I am merging DOID:0111208 (type 2A) into type 2

        distal hereditary motor neuronopathy type 2B
             --> renamed type 3 --> reparented to the top parent term
            -- definition updated
        distal hereditary motor neuronopathy type 2C
              OMIM name is now:    
              [OMIM:613376]: Neuronopathy, distal hereditary motor, autosomal dominant 4
                                            distal hereditary motor neuronopathy type 4

        distal hereditary motor neuronopathy type 2D     [OMIM:158590]
              --> renamed to type 6, name & parentage updated 

distal hereditary motor neuronopathy type 5. --> added OMIM ID type 5A, [DOID:0111204] --> merging type 5A into type 5; xrefs and synonyms moved

                   type 5B  [DOID:0111205] is now type 12 
            --> name and definition updated 
                        autosomal dominant distal hereditary motor neuronopathy-12
                   --> this one is not yet listed in the same phenotypic series at OMIM

distal hereditary motor neuronopathy type 7 type 7A --> merged into type 7 type 7B --> this is now type 14 distal hereditary motor neuronopathy type 8 --> name updated distal hereditary motor neuronopathy type 9 --> name updated

Added: type 10, type 11, 13