-
```
"RybC" "b0619" "dpiB/citA" "NC_000913" "Mandin:Gottesman:genet_appro_for:2009" "https://doi.org/10.1111/j.1365-2958.2009.06665.x" "Fig6"
```
-
Action items:
- [ ] 1. most OMIM synonyms should be exact (not related)
- [ ] 2. most NCIT and GARD syns should be exact too
I think we could do this:
1) change all OMIM synonyms from related t…
-
#### What is the problem?
I am unable able to get any data from the fcon1000 dataset.
#### What steps will reproduce the problem?
```
❱ datalad install ///indi/fcon1000
install(ok): /home/…
-
Check for example:
```
[Term]
id: MONDO:0014044
name: dysmorphism-conductive hearing loss-heart defect syndrome
def: "#64258;at nares, Cupid's bow upper lip vermilion, and small, low-set, poste…
-
Like discussed in last night's GA4GH call, I'd like to propose opening up discussion on how to include ethnicity in phenopackets 2.0.
My impression from the discussion was that simple enumeration o…
-
I would expect all clingen subset diseases (i.e. those that have undergone lumping and splitting) are included in the list. Is this true? We may wish to include this subset flag in any case because th…
-
```
Elk says
Acidosis = acidosis = acidemia
HP:
Acidosis is a condition in which there is excessive acid in the body fluids.
has_part some
('increased concentration'
and ('inheres in' so…
-
Hi all,
I've recently been having a discussion regarding uPheno with @matentzn, who requested I write this up as a uPheno issue here.
We've put a lot of work into creating gold-standard (manual)…
-
See also #3452.
compare:
```
id: MONDO:0043452
name: chromosome 8, trisomy
def: "A chromosomal abnormality consisting of the presence of a third copy of chromosome 8 in somatic cells." [NCIT…
-
Users might enter wrong HPO-IDs, because:
- use of a wrong version of HPO , i.e. use classes that do not yet exist in the HPO used by Exomiser
- use of term-IDs that belong to obsoleted terms in HPO,…
drseb updated
7 years ago