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This is the podcast on impostor syndrome based on African Folk Tale. This should have some African background music.
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Dear all,
Regarding ORPHA ORPHA:374 [Goldenhar syndrome](https://www.orpha.net/en/disease/detail/374), the disease has been excluded from the Orphanet nomenclature of rare diseases and moved to ORP…
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**Preferred term label:**
**Synonyms**
**Definition (free text, please give PubMed ID)**
Mannis MJ, Holland EJ. Cornea. 4th ed. St. Louis, Mo: Elsevier Inc.; 2015:518-525. : Parinaud oculog…
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My understanding is that knowing which gene is responsible for BBL does not drastically affect treatment
There are some statistical variations reported in https://pubmed.ncbi.nlm.nih.gov/20301537/
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Dear all,
We were hoping you could confirm that the mapping to ICD-10 is correct for ORPHA:60030 Loeys-Dietz syndrome. The mapping listed in Orphanet resources is to ICD-10 Q87.4 (Marfan syndrome) …
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We have recently had feedback that it should be written Down syndrome. We checked with the team who wrote our Down's syndrome content. They worked with the Down's Syndrome Association who approved our…
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### User story
As a Researcher on ReportStream, I want to understand more about the syndromic surveillance / ADT ecosystem, especially information related to the upcoming MVP with the Oklahoma STLT, s…
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**Mondo term (ID and Label)**
MONDO:0035383 FOXG1 syndrome
**Reason for deprecation**
GeneReviews uses FOXG1 syndrome as their preferred name for this chapter: https://www.ncbi.nlm.nih.gov/books/…
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Here's a short list of curies that have identical preferred names but don't get combined. A couple are discordant in biolink category.
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DOID:10017 multiple endocrine neoplasia type 1 biolink:Di…
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Hi Marie-Cecile,
an expert from Austria pointed out that OMIM # 619004 DEEAH Syndrome (linked to MADD gene) is missing in the database (the gene is only linked to Non-specific syndromic intellectual …