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Mondo Disease Ontology
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Bosma Arhinia Microphthalmia Syndrome #7813

Open galyea123 opened 5 months ago

galyea123 commented 5 months ago

Hi!

I noticed that you have the following terms as synonyms of Bosma Arhinia Microphthalmia Syndrome. You may consider on grouping all these three terms together.

Note: In NORD we have a report entitled: "Bosma Arhinia Microphthalmia Syndrome" (we list "arrhinia-choanal atresia-microphthalmia syndrome" in the NORD list with is a synonym for Bosma Arhinia Microphthalmia Syndrome); but we also list "hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" as per Orphanet. Therefore, I wrote a ticket to Orphanet as both " Arrhinia-choanal atresia-microphthalmia syndrome" and "Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome" are linked to the same OMIM ID 603457 for Bosma arhinia microphthalmia syndrome. Based in a literature review these are all the same entities. Brasseur B, Martin CM, Cayci Z, Burmeister L, Schimmenti LA. Bosma arhinia microphthalmia syndrome: Clinical report and review of the literature. Am J Med Genet A. 2016 May;170A(5):1302-7. doi: 10.1002/ajmg.a.37572. Epub 2016 Feb 3. Citation on PubMed Gordon CT, Xue S, Yigit G, Filali H, Chen K, Rosin N, Yoshiura KI, Oufadem M, Beck TJ, McGowan R, Magee AC, Altmuller J, Dion C, Thiele H, Gurzau AD, Nurnberg P, Meschede D, Muhlbauer W, Okamoto N, Varghese V, Irving R, Sigaudy S, Williams D, Ahmed SF, Bonnard C, Kong MK, Ratbi I, Fejjal N, Fikri M, Elalaoui SC, Reigstad H, Bole-Feysot C, Nitschke P, Ragge N, Levy N, Tuncbilek G, Teo AS, Cunningham ML, Sefiani A, Kayserili H, Murphy JM, Chatdokmaiprai C, Hillmer AM, Wattanasirichaigoon D, Lyonnet S, Magdinier F, Javed A, Blewitt ME, Amiel J, Wollnik B, Reversade B. De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development. Nat Genet. 2017 Feb;49(2):249-255. doi: 10.1038/ng.3765. Epub 2017 Jan 9. Citation on PubMed See also MedlinePlus for further clarification: https://medlineplus.gov/genetics/condition/bosma-arhinia-microphthalmia-syndrome/

sagehrke commented 5 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

katiermullen commented 2 weeks ago

@galyea123 Thank you for this request!

I agree with your assessment that these terms represent the same concept and can be combined.

First, MONDO:0015238 Arrhinia-choanal atresia-microphthalmia syndrome appears to come from Orphanet:1135, but this entity has been excluded from the Orphanet nomenclature of rare diseases and moved to Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome.

Based on this, I think that we can obsolete MONDO:0015238 and merge it with the other terms.

I also think that we can merge MONDO:0016393 into MONDO:0011323 based on the overlapping synonyms and references to the same OMIM:603457.

This would mean that we would obsolete MONDO:0015238 and MONDO:0016393 and merge these terms into MONDO:0011323.

Please let me know if this plan sounds reasonable. Thank you!