Review 'Mendelian disease'

[ImkeTammen]

Mondo term (ID and Label): MONDO_0003847 Mendelian disease

Suggested new label: Genetic disease

Your nano-attribution (ORCID) If you don't have an ORCID, you can sign up for one here (0000-0002-5520-6597)

Optional: Any additional information (like supporting evidence, PubMed ID, etc.)

The current definition is ‘a disease that is caused by genetic modifications where those modifications are inherited from a parent's genome.' In my understanding Mendelian diseases are only monogenic diseases. I'm under the impression that MONDO lists OMIM entries here but some of these OMIM are not single gene / monogenic diseases. OMIM is "an Online Catalog of Human Genes and Genetic Disorders' - A broader term such as genetic disease or inherited disease may thus be required.

[nicolevasilevsky]

Peter and Ada agreed to the label 'herediary disease'

[sabrinatoro]

To do:

• [x] rename MONDO:0003847 'hereditary disease'
• [x] review the x-ref for MONDO:0003847
• [ ] children for 'hereditary disease' should be
  • 1) monogenic/mendelian disease (New term)
  • 2) chromosomal disorders (confirmed on Mondo call 2023-06-22)
  • 3) ~hereditary syndromic disease (New term)~
• [ ] New term: monogenic/mendelian disease (some of the x-ref for MONDO:0003847 might refer to this new term)
• [ ] ~New term: hereditary syndromic disease: @nicolevasilevsky can add this as part of this ticket: https://github.com/monarch-initiative/mondo/issues/5952~
• [ ] review the classification of current terms
• [ ] create sub-classification based on structure affected (e,g, cardiogenetic disease, nephrogenetic disease (https://github.com/monarch-initiative/mondo/issues/5952)

Revision of current terms, maybe could be done programmatically?

• diseases that have 1 (and only 1) axiom 'has material basis in germline mutation in' some gene" should be monogenic/mendelian disease
• terms that have "syndromic disorder" parent and/or have the word "syndrome" in their label should be hereditary syndromic disease (I need feedback on these rules)

Discussed on Mondo Medical Expert Meeting (2023-02-23) @nicolevasilevsky, could you please review? Thank you!

[nicolevasilevsky]

this looks good to me!

[ImkeTammen]

Thank you for looking into this :)

1. should mendelian be Mendelian ?
2. I am not sure that the term 'hereditary syndromic disease' is appropriate here , NCBI definition of syndromic disease: " A group of signs, symptoms, and clinicopathological characteristics that may or may not have a genetic basis and collectively define an abnormal condition. [ from NCI] Syndromic disease (Concept Id: C0039082) - NCBI

Thus a syndromic disease can be a Mendelian disorder. I would consider 'multifactorial' or 'complex inheritance'

[nicolevasilevsky]

Hi Imke,

1. Yes, we'll capitalize Mendelian
2. we will define 'hereditary syndrome disease' as A group of signs, symptoms, and clinicopathological characteristics that have a genetic basis and collectively define an abnormal condition. We have a separate term for syndromic disease.

thanks for your feedback!

[ImkeTammen]

Hi Nicole, I am still not sure if that is the correct term. I assume that you want to capture under this term something that is different to Mendelian and Chromosomal. There are multiple hereditary syndromic diseases (based on your definition) that would be Mendelian diseases or chromosomal disorders. I assume that you would want to capture the kind of diseases were genetics contributes to the disease but other factors also play a role and/or where many different genes contribute to disease. The mode of inheritance for these is described in OMIM (and most geneticists) as 'multifactorial' (see 106300 SPONDYLOARTHROPATHY, SUSCEPTIBILITY TO, 1; SPDA1 as an example in OMIM). I would thus strongly suggest to use 'multifactorial disease'