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I would like to submit a request that Orphanet include the term "KCNH1-Related Disorders" in your database. I was instructed to reach out to you directly from Gioconda Alyea at the National Organizati…
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Hi! I was not sure if this is the right place for this issue but I wanted to let you know that you list trimethylaminuria (broad term) MONDO:0011182 with the following description: "A rare inborn er…
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Orphanet provides gene-disease and disease-phenotype associations for rare diseases under at CC-BY 4.0 license.
See link for "Genes associated with rare diseases" in http://www.orphadata.org/cgi-…
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In a recent meeting with Tony Hickey, external SME, he provided feedback on the Translator UI related to what he refers to as "convergent phenotyping", which is essentially the idea of leveraging shar…
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### Problem description
In many products, the nutrition table is either missing or incomplete (eg: Selenium, Iodine,…), and some people and some apps (for nutrition tracking, or rare diseases) woul…
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### Short title
Exploring how the semantics of the network of FAIR rare disease resources can be exploited for the benefit of people living with a rare disease
### Project Description
Do you wish t…
mroos updated
8 months ago
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I am wondering if we should also allow annotations for thins like Sleep apnea -- this is a symptom of many rare diseases, and probably the treatment is not different for the individual diseases.
So,…
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Orphanet provides gene-disease associations for rare diseases under at CC-BY 4.0 license.
See link for "Genes associated with rare diseases" in http://www.orphadata.org/cgi-bin/index.php. Current…
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Dear all,
a researcher from our Institute should apply to a grant call and asked us some informations about the following disease:
"leukodystrophy caused by biallelic mutations in the RNF220 gene".…
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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…