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- Website URL: https://rarediseases.info.nih.gov/
- License: ** Public domain**
- Desired ZIM Title: **Rare Diseases**
- Desired ZIM Description: **Rare diseases database**
- Desired ZIM Icon –pn…
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Background: EFO agrees that representation of rare diseases is unsatisfactory; MONDO has already taken steps to rectify the situation (https://github.com/monarch-initiative/mondo/issues/254). EFO may …
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Create the category classes for rare diseases;
- Autoimmune / Autoinflammatory diseases
- Bacterial infections
- Behavioral and mental disorders
- Blood Diseases
- Chromosome Disorders
- Cong…
S2Ola updated
4 years ago
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Identify ways to share our findings, and get members of the rare disease community to engage with our resources (e.g. web apps).
# Stakeholders
- Researchers
- Healthcare providers (doctors, nurs…
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We need to create some mondo subset files for use in KGs along the following lines:
- Rare disease subset
- Rare disease subset with leaf nodes representing variants in same gene rolled up to pare…
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Dear all,
A Spanish coder requests the creation of an ORPHAcode for the **Shashi-Pena syndrome**, a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectu…
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# ORPHAcodes
## Background
Rare diseases include approximately 5,000 to 8,000 distinct conditions. Their prevalence is less than 1 in 2,000 individuals in the European Union and less than 1 in 1…
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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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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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**Mondo term (ID Label)**
MONDO:0005570
**Bug/Typo/Error description**
MONDO:0005570 Hematologic Disease has a subset annotation of "rare" when it should not. Consequently, this may also be lead…