Peter Robinson

connective tissue neoplasm

1

Some of the child terms of this term do not *always* have connective tissue neoplasm, it is a facultative feature, e.g., https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3805425/

A useful source for definitions and synonyms for epidermolysis bullosa

2

https://www.ncbi.nlm.nih.gov/pubmed/24690439

spastic pseudosclerosis

1

**Mondo term (ID Label)** spastic pseudosclerosis https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0010050 **Bug/Typo/Error description** This is a legacy entry in OMIM https://omim.org/entry/270900 it does not provide an adequate description of a disease, and so it...

**Mondo term (ID Label)** [glaucoma 1, open angle, G](https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0012357&lang=en&viewMode=PreferredRoots&siblings=false) and related terms [Glaucoma 1, open angle, I](https://omim.org/entry/609745) is not a hereditary form of glaucoma, it is a locus that confers...

Should all obsoleted terms have labels?

11

In HP, we have as label: "obsolete: previous label" This is useful for understanding what the term was and why is was obsoleted. This information is missing in MONDO (many...

Propagation of phenotype to diseases such as pneumonia is CONFUSING

3

https://beta.monarchinitiative.org/disease/MONDO:0005249#phenotype Users will interpret pneumonia as the disease pneumonia. However, the page is subsuming phenotypes from all of the subclasses of the Mondo term for Pneumonia, and a lot of...

Inherited metabolic disease classification

7

Let's build out the respective parts of Mondo according to An international classification of inherited metabolic disorders (ICIMD) https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12348 There is a supplemental file we can work with.

Pneumonia-Revisions

2

**Mondo term (ID Label)** https://www.ebi.ac.uk/ols/ontologies/mondo/terms?iri=http%3A%2F%2Fpurl.obolibrary.org%2Fobo%2FMONDO_0005249 Pneumonia is a common acute respiratory infection that affects the alveoli and distal bronchial tree of the lungs. https://www.nature.com/articles/s41572-021-00259-0 1. -- I do not think...

familial meningioma

4

A meningioma that is transmitted from the parents to an offspring. [ NCIT:P378 ] This definition is not great because this is not a Mendelian disease and in real cases...

difference of sexual differentiation

1

**Mondo term (ID and Label):** difference of sexual differentiation **Suggested new label:** disorder of sexual development (this is by far the most commonly used term for this class of diseases)....