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I decided to review records directly in the Zheln format as for that, I require:
- (a) clickable links to quickly open record abstracts or full texts
- (b) clickable checkboxes to set steps comple…
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**MONDO:0005267 heart disease**
Is a subclass of 'cardiovascular disease' and 'thoracic disease', and equivalent to
disease or disorder and (disease has location some heart)
which is fine
MON…
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**Preferred term label:**
Air trapping on Expiration
**Synonyms**
**Definition (free text, please give PubMed ID)**
Abnormal retention of gas within a lung or part of a lung, as a result of …
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Proposed TA name: Respiratory, thoracic and mediastinal disorders
Current EFO TA name: Respiratory System Disease (TA), Thoracic Disease (TA) and Mediastinal Disease (NOT A TA AT THE MOMENT)
Priori…
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Hate to bother with more issues, but I'm only finding these because of how useful I've found ARAX/ARAX interface 😄
I tried running the following query for finding chemicals connected to SPMSY, which…
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cc @zoependlington
As agreed at a meeting today with @d0choa, Sandra Machlitt-Northen and @simonjupp, this ticket is the first one in a series of 15, all of them about the new MedDRA-like therapeuti…
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> "title": "NHP2 Dyskeratosis Congenita"
https://github.com/clingen-data-model/data-exchange-shared-json/blob/87fa6290e08a78d16eb022a487a1c8254dd1603e/json-structure-phase1/Gene%20Curation%20Interf…
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@mbaudis @julesjacobsen @cmungall @mellybelly
The Histologic grade of a tumor (the element ``tumor_grade`` of the ``biosample`` of a phenopacket) describes the histologic appearance of a tumor, an…
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While the current terms nested under “Mode of Inheritance” are sufficient for mendelian inheritance, these are not sufficient for the purposes of indexing genotype-phenotype connections that are based…
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Based on some analysis in MonDO, we believe that NCIT_C6934 gangliocytoma is a sibling of NCIT_C0349 ganglioneuroma.
DO currently xrefs NCIT_C0349 (and UMLS:C0017075), and I'd like to ask that thes…