DO Nosology review, 2nd semester, LHON review

[lschriml]

Hi Lynn,

The GC students did a really good job on the LHON topic! Their work is attached.

I think we discussed some of this at our last meeting, but Carol and I were talking about it and think that the DO should have 3 separate entries for LHON:
LHON
Classic/typical LHON
LHON-plus
LHON with other neurological symptoms
AR-LHON (or LHON-like disease)
Autosomal recessive, 2 genes

The DO currently has 4 for LHON:

1.              Leber hereditary optic neuropathy (DOID: 705)
   

2.              Leber plus disease (DOID: 0111754)
   

3.              Leber hereditary optic neuropathy and dystonia (DOID: 0111755)
   

4.              Leber hereditary optic neuropathy with demyelinating disease of the CNS (DOID: 0111756)
   

The current entries are close to what we propose, with the last 3 entries (0111754, 0111755, 0111756) being lumped under LHON-plus. Some of that is already set up in the DO we think. Where to fit them all in the tree as the primary location and then cross referenced is another question. Carol I think you were saying earlier when we met with the students that it’s linked to eye/nervous system/mitochondrial/syndrome so figuring out the primary location for it needs to be determined.

https://docs.google.com/spreadsheets/d/16477mU_imn8imxpezT7UJzT1Odz1I0vc/edit?gid=711348945#gid=711348945

[lschriml]

Waiting for Clinician's colleagues to review.
On hold currently.