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Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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Several issues #7694

Open galyea123 opened 5 months ago

galyea123 commented 5 months ago

As decided I am sending several issues in one template: (please let Sabrina know about these requests and let me know if you rather have me sending individual requests)

  1. Issue request: Add synonyms MONDO entry: nephrotic syndrome 14 (MONDO:0033203) Note: MONDO already have the following synonyms: • familial steroid-resistant nephrotic syndrome with adrenal insufficiency • nephrotic syndrome 14 • nephrotic syndrome, type 14 • NPHS14 • primary adrenal insufficiency-steroid-resistant nephrotic syndrome due to SGPL1 deficiency Add the following synonyms: RENI syndrome Renal, endocrine, neurologic and immune syndrome Sphingosine phosphate lyase insufficiency syndrome SPLIS Familial steroid-resistant nephrotic syndrome with adrenal insufficiency SGPL1 Deficiency, Steroid-Resistant Nephrotic Syndrome Type 14

  2. Issue request: Add synonym MONDO entry: neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination MONDO:0032705 Synonym to be added: 5,10 – Methenyltetrahydrofolate Synthetase Deficiency NOTE: NORD has a report for this condition (English and Spanish)

  3. Issue request: TAG condition as rare MONDO entry: Beck-Fahrner syndrome MONDO:0032922 Request: Tag it as rare and please tag it as NORD rare NOTE: I sent a ticket to Orphanet requesting to add this term (currently under “Non-specific syndromic intellectual disability” as there is also a GR). We are writing a NORD report.

Thank you, Gioconda Alyea

sagehrke commented 4 months ago

Dear @galyea123, Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!

We have received your ticket and will review it as soon as possible.

If you have any additional information or updates relevant to your inquiry, please add them in a comment on this ticket. Your input is valuable in helping us understand and resolve the issue effectively.

Thank you for your patience and for your contributions to Mondo!

Sincerely, The Mondo Team