sagehrke
commented
1 week ago Dear @galyea123 Thank you for reaching out to the Mondo Disease Ontology, part of the Monarch Initiative!
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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/