MONDO:0800153 | urea cycle disorder or inherited hyperammonemia

[ValWood]

MONDO:0800153 | urea cycle disorder or inherited hyperammonemia | A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle and/or there is an inherited increased concentration of ammonia in the blood.

This seems a strange grouping term.

MONDO:0800153 | urea cycle disorder is a collection of specific diseases

Is inherited hyperammonemia a specific disease? inherited hyperammonemia sound like a phenotype "increased concentration of ammonia in the blood."

What was the rationale for the grouping? Which disease genes (other than urea cycle disorder ) cause inherited hyperammonemia

[nicolevasilevsky]

Hi @ValWood we are revising this hierarchy to match the expert-recommended classification outlined in this paper (https://onlinelibrary.wiley.com/doi/abs/10.1002/jimd.12348), see related ticket: https://github.com/monarch-initiative/mondo/issues/4985

[nicolevasilevsky]

the authors listed the genes in the table in their paper

[nicolevasilevsky]

does this answer your question?

[ValWood]

Yes!

In this case, should the def be

MONDO:0800153 | urea cycle disorder or inherited hyperammonemia | A disorder of amino acid metabolism that has its basis in the disruption of the urea cycle a OR [an inherited hyperammonemia, any specific disease which causes an inherited increased concentration of ammonia in the blood].

To make it clearer that this is a disease classification, not a disease plus a phenotype (it's actually diseases identified by phenotype, which is fine as long as they are defined as diseases)

[nicolevasilevsky]

thanks @ValWood, I updated the definition.