J. Allen Baron

We have not completed it yet.

Closing this stale issue because there was no reply from the original poster. Feel free to re-open this or another ticket if you still need assistance or if you'd like...

'has major susceptibility factor' http://purl.obolibrary.org/obo/RO_0004005 Also need to examine if updates are needed in OMIM susceptibilities.

@lschriml it looks like you completed this issue? Is there something more that needs to be done?

Based on the latest medical consensus only neurofibromatosis 1 should be included as a neurofibromatosis while NF2 & NF3 should become subtypes of schwannomatosis. I'll update NF2 & NF3 in...

I’m trying to decide the placement for a number of neurofibromatosis disease variants all caused by mutations in neurofibromin 1 (HGNC:7765). These are the diseases: 1. **neurofibromatosis 1 (NF1)** -...

'chromosome 17q11.2 deletion syndrome' (DOID:0060403) might also be an appropriate descendant of RASopathy (possibly as a child of neurofibromatosis or 'neurofibromatosis 1'). It is currently a child of 'chromosomal deletion...

We might also want to include reclassification/grouping of the 'developmental and epileptic encephalopathy' (DOID:0112202) diseases as part of this adjustment, since they have a complex relationship with some of these...

Noting that some of the children of 'infancy electroclinical syndrome' (DOID:0050703) and 'neonatal period electroclinical syndrome' (DOID:0050702), which were characterized based on phenotypic similarities in the past, have been grouped...

Noting that 'Rett syndrome' (DOID:1206) has significant phenotypic overlap with DEE diseases as well and may need to be considered as part of this update. Useful reference: Rett Syndrome Spectrum...