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https://ojrd.biomedcentral.com/articles/10.1186/s13023-021-01923-0/tables/1
Make a data.tsv based on Table 1 in this paper, which collects treatments for rare diseases
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rare diseases should be limited to the human disease branch.
This Sparql query can be used: https://api.triplydb.com/s/CQyBQn-dk
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**Priority**: low
We can create a custom domain to host the website on (tho on the backend it would be the Imperial server).
Currently, it is called the Rare Disease Celltyping Portal.
Ideas fo…
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Dear all,
We would like to propose the inclusion of the following disorder, an ultra-rare disease, of which we have become aware through a Spanish research project:
https://www.jci.org/articles/vi…
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### What
Add estimates of rare nutrients (using CIQUAL or other custom tables) for people with rare illnesses
- An example is the lysine levels in food, for an illness touching the child of a friend…
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Department of Computer Science and Engineering, The Chinese University of Hong Kong
Department of Radiation Oncology, Stanford University
Shenzhen Key Laboratory of Virtual Reality and Human Interac…
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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
9 months ago
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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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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…