Andreas Zankl
We discussed this problem before when I tried to come up with a logical definition for beaded ribs (#3300). I think beaded ribs has 2 meanings: it can refer to...
**Preferred term label:** deep transverse fissures in inferomedial aspect of temporal lobes **Synonyms** **Definition (free text, please give PubMed ID)** deep transverse fissures in inferomedial aspect of temporal lobes. These...
I just installed ontobio (via pip) and am going through the documentation to familiarise myself with the tool. When I try: `ogr.py -r cl -p subClassOf -t tree neuron` as...
I find the term ‘germline sample’ misleading, for example [here](https://phenopacket-schema.readthedocs.io/en/v2/cohort.html?highlight=germline#files). I understand that in the context of cancer, this refers to the ’normal’ tissue, but outside of the context of...
Phenopackets' building blocks are sometimes referred to as ‘messages’ and sometimes as ‘elements’ in the docs. For example, ‘Individual’ is called an element ([here](https://phenopacket-schema.readthedocs.io/en/v2/individual.html)), while ‘File’ is called a message...
Referring to Documentation [here](https://phenopacket-schema.readthedocs.io/en/v2/pedigree.html#affectedstatus): 1. Prefer "UNKNOWN" instead of "MISSING". The description of the term also uses 'unknown' ("It is unknown if the individual has the affected phenotype"). 2. Do...
The text [here](https://phenopacket-schema.readthedocs.io/en/v2/pedigree.html#example) refers to showing an example pedigree in PED file format. This example is missing.
I tried matching ```HP_0001249 Intellectual disability``` to MP. The best match I could find is ```MP_0014114 abnormal cognition```, but interestingly the logical definitions don't quite match up: ``` MP_0014114 abnormal...
I have set up ‘Phenotypes’ Layer on which I annotate text spans to HPO terms. I also added a ‘Comment’ Feature, where I can write short comments, e.g. ’need to...
Is it possible to not have a colour gradient across symbols by default? In my mind, a symbol is either black (affected) or white (unaffected). Having a grey gradient across...