omim_300232, ORPHA:168448, and ORPHA:83629

[maglott]

OMIM recently moved https://www.omim.org/entry/300660 into omim_300232.
How should these concepts now be sorted out?

[nicolevasilevsky]

Sounds like we should obsolete MONDO_0010394 'leukoencephalopathy-metaphyseal chondrodysplasia syndrome'
and replace it with MONDO_0010275 'spondyloepimetaphyseal dysplasia, Bieganski type'

[nicolevasilevsky]

@ana-rath-orphanet and @annieolry
See above, OMIM merged these two terms. Does Orphanet want to consider retiring
ORPHA:83629 Leukoencephalopathy-spondylometaphyseal dysplasia syndrome
and merged it with
ORPHA:168448 Spondyloepimetaphyseal dysplasia, Bieganski type

[annieolry]

I passed on to the team here. We will let you know asap.

[AntoineMarmignon]

Hi, I am Antoine from Orphanet, in charge of genetic info and OMIM alignement
If I understand correctly we already did the opposite, obsolete "Spondyloepimetaphyseal dysplasia, Bieganski type" and merge it with "Leukoencephalopathy-spondylometaphyseal dysplasia syndrome"

The Orpha168448 has been deprecated to Orpha83629
On the website you can see :
"This disease has been moved to Leukoencephalopathy-spondylometaphyseal dysplasia syndrome"
The OMIM phenotype 300232 is linked to Orpha83629 only now.

[nicolevasilevsky]

@AntoineMarmignon - We went ahead and followed OMIM: they moved https://www.omim.org/entry/300660 into omim_300232.