lschriml

Apologies for the delayed response. I'm not entirely sure what is needed to resolve your issue. Can you provide specific examples ? Thank you, Lynn

Great, thank you Steven !! I am working my way through the list. Thank you for sharing these update requests. Cheers, Lynn On Wed, Mar 6, 2019 at 5:23 AM...

Hello @sbello. syndromic: characterized by the presence of associated medical and behavioral sign and symptoms. non-syndromic: characterized by the absence of associated medical and behavioral signs and symptoms. I agree...

Hello @sbello - Can you try contacting OMIM again ? If no response, then I would say make updates according to the definitions of syndromic vs non-syndromic. Cheers, Lynn

Agreed !! Thank you Sue !! On Thu, Feb 20, 2020 at 2:18 PM Sue Bello wrote: > Emailed OMIM again today to see if they have any advice. If...

glomuvenous malformations (OMIM:138000|ORDO:83454) glomangioma (DOID:2436) glomangiomatosis (DOID:6906) A benign perivascular tumor that is characterized as a vascular variant of a glomus tumor. PubMed:28656356, Glomangiomatosis is a benign vascular variant of...

Good idea, I’ll check it out. Sent from my iPhone > On Nov 30, 2020, at 3:33 PM, Becky Jackson wrote: > >  > Maybe since "diarrhea" is a...

SO terms updated: - adding back terms: loss_of_function_variant maternal_uniparental_disomy SO:0001745 paternal_uniparental_disomy SO:0001746 maternally_imprinted SO:0000135 chromosomal_translocation. SO:1000044 paternal_variant SO:0001776 maternal_variant SO:0001775 gremlin_variant SO:0001778 somatic_variant SO:0001777 chromosomal_deletion SO:1000029 chromosomal_duplication SO:1000037 chromsomal_translocation SO:0000453...

Looking at UBERON: terms needed for DO: UBERON label hand manus foot pes finger manual digit thumb manual digit 1 cerebrum telencephalon -- updated labels in uberon_terms.txt Is there a...

Yes, They synonyms of Uberon terms. Sent from my iPhone > On May 18, 2021, at 5:07 PM, Becky Jackson ***@***.***> wrote: > >  > Are these different labels...