Several issues

[galyea123]

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]

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