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Two possible new final figures:
1) Which cell types are associated with severe phenotypes?
- Two row figure covering a) non-congenital phenotypes which always/often cause death, b) non-congenital p…
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NEW VERSION:
In case the old post was a bit confusing, I have created a new and hopefully better version and corrected many errors in the process. I hope all is well now and apologise for any incon…
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## Type: Bug Report
## URL: https://ui.test.transltr.io/main?fm=true
## ARS PK: f1aa3777-26a7-4426-9817-48e953f52b35
## Steps to reproduce:
MVP1 on Obstructive sleep apnea
search for Omega-3 fatty a…
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I'd like to request a term for hypervalinemia and hyperleucine-isoleucinemia. This is the first of several terms I am requesting from the first paper cited below on amino acid metabolism disorders, so…
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See parent GitHub Issue `133`.
[CFAR dbGaP](https://www.ncbi.nlm.nih.gov/projects/gap/cgi-bin/study.cgi?study_id=phs001788.v1.p1&phv=404381&phd=&pha=&pht=8818&phvf=12&phdf=&phaf=&phtf=&dssp=1&cons…
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For the term chromosome 3-linked frontotemporal dementia, DOID:0111227:
OMIM calls this frontotemporal dementia and/or amyotrophic lateral sclerosis 7, https://www.omim.org/entry/600795, and incl…
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Request to consider adding a term.
We were contacted by a patient organization asking to add Noxacusis or Pain Hyperacusis to the rare diseases list
Synonyms
Noxacusis
Pain Hyperacusis
Noise-I…
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Our current SPARQL query template has a couple of problems that make it slow:
Unnecessary nesting of OPTIONAL clauses
https://github.com/neurobagel/api/blob/1e9ef34d54b89b824c42f1e6293a0ab9d5931c6…
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Hi, I have downloaded the dataset from
https://nilearn.github.io/modules/generated/nilearn.datasets.fetch_abide_pcp.html
However, the dataset did not have the "subject_IDs.txt" file so I had to cr…
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### Label
SPATA5L1-related complex neurodevelopmental disorder with motor features and hearing loss
### Synonyms
_No response_
### Synonym type
None
### Definition
A neurodevelopmental disorder…