monarch-initiative / mondo

Mondo Disease Ontology
http://obofoundry.org/ontology/mondo
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review classification of Hereditary Hemochromatosis #3557

Closed nicolevasilevsky closed 2 years ago

nicolevasilevsky commented 3 years ago

https://github.com/monarch-initiative/helpdesk/issues/31

nicolevasilevsky commented 3 years ago

Note to self: need to look into hemochromatosis classification further and flesh out our hierarchy eg bronze diabetes.

the parent of 'hereditary hemochromatosis' is hemosiderosis, we don't have a general hemochromatosis class. I'll look into this further

nicolevasilevsky commented 3 years ago

from Peter: Many but not all cases of hemochromatosis are Mendelian.

ValWood commented 3 years ago

Heamochromatosis shouldnt be is_a Hemosiderosis

Difference between haemochromatosis and Hemosiderosis Hemochromatosis is a rare disease in which direct deposition of iron takes place in body organs such as liver, spleen, pancreas and skin that cause tissue damage. Hemosiderosis on the other hand side is a disorder characterized by deposition of excess iron within the body tissues that normally do not containing iron.

nicolevasilevsky commented 3 years ago

Thanks @ValWood!