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Attached in the screenshot are the top hits for a single sample run through exomiser's phenotype only mode + pheval runner post processing.
- The top two hits (ORPHA:25 and OMIM: 231670) are actuall…
AO33 updated
3 months ago
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For background see https://github.com/monarch-initiative/monarch-disease-ontology/issues/249
add xrefs for equivalence pairs; remove source xrefs between named classes.
This will allow obof cons…
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Following up on #482 about adding p-values and other association scores, we noted a few other areas where the GWAS data could be improved to make it better integrated and more useful.
### Current S…
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Somehow this particular MONDO ID does not exists in our mondo API:
https://biothings.ncats.io/mondo/disease/MONDO:0021145
(updated to MONDO version 2023-06-01)
Check the original `mondo.obo` …
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From @mellybelly on September 16, 2017 14:51
https://ghr.nlm.nih.gov/about/data-files-api
Would be good to have reciprocal links as well as potentially getting content, citations, etc.
@lwinfree …
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We have a term that was added in #5261
```yaml
id: MONDO:0800145
name: non-severe combined immunodeficiency due to polymerase delta deficiency
def: "Any non-severe combined immunodeficiency in w…
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```
[Term]
id: DOID:0080033
name: craniometaphyseal dysplasia
namespace: disease_ontology
def: "An osteosclerosis that has_material_basis_in mutations in the ANKH gene which results_in progressive thi…
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We currently use the AMP/ASCO/CAP and ACMG (Mendelian cancer predisposition) guidelines to harmonize the somatic and germline variant classification, respectively. Unfortunately, both the ACMG and AMP…
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'Models' are animals or cell line systems that can be used to study a particular condition or disease. An entity is asserted to model a disease using the is_model_of relation (RO:0003301) - and in th…
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Related to https://github.com/monarch-initiative/monarch-app/issues/983
Currently taxon is only fetched for genes. Therefore it looks weird to see the column blank for disease / phenotype searches as …