Peter Robinson

pulmonary hypoplasia means undergrowth of the lung, so it is different!

@ahamosh OMIM has [progressive supranuclear palsy](https://omim.org/entry/601104) and lists STEELE-RICHARDSON-OLSZEWSKI SYNDROME as a synonym, but other literature appears to regard the latter as an idiopathic non Mendelian disease , e.g., https://www.mjdrdypu.org/article.asp?issn=0975-2870;year=2013;volume=6;issue=3;spage=342;epage=345;aulast=Gokhale;type=3...

It is not true that neurodegenerative disease is always CNS (https://pubmed.ncbi.nlm.nih.gov/31008845/): ``` Peripheral neuropathy is the most common neurodegenerative disease affecting hundreds of millions of patients worldwide and is an...

There are still tons of errors here, let's discuss on a future call. For instance, enzootic pneumonia of calves is not even a human disease

``` 'inborn errors of metabolism' and ('disease disrupts' some 'organic acid metabolic process') ``` is wrong because it is restricted to organic acid . Also, it is quite an underspecification...

``` 'inborn errors of metabolism' and ('disease caused by disruption of' some 'cellular amino acid metabolic process') ``` This is also wrong because it is limited to amino acids. And...

microcolon is another example of this MONDO:0009628 it should also be obsoleted.

Not all "disorder of sexual development"s are disorders affecting the X and Y chromosome. However, specific gene mutations manifest differently according to the chromosomal status. One often sees categorizations like...

Here is another paper https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5471962/ they cite Harrisons -- Terms lobar or bronchopneumonia not recommended.

Progeria means that patients age quickly and survive until their teens. This is the classic progeria disease: https://omim.org/entry/176670. I would suggest a good terminology is that progeroid syndrome be used...