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Revise parentage of EFO:0006513 hereditary hemochromatosis type 1 #568

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paolaroncaglia opened this issue Sep 27, 2019 · 2 comments
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@paolaroncaglia
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paolaroncaglia commented Sep 27, 2019

EFO:0006513 hereditary hemochromatosis type 1

"Hemochromatosis type 1 (classic) is the most common form of hereditary hemochromatosis (HH), a group of diseases characterized by excessive tissue iron deposition. Due to its incidence (1/200-1/1000), it is not considered as a rare disease, unlike the other subforms of the disease [ https://github.com//issues/58 EFO:0006513 ]"

database cross reference (among others): Orphanet:465508 (MONDO:equivalentTo)

Subclass of:
hepatobiliary disease
hereditary hemochromatosis
has_disease_location some hepatobiliary system
has modifier some not rare
has_participant some iron

The Mondo equivalent, MONDO:0021001 hemochromatosis type 1, has a comment
Editor note: check ORDO entry

The ORDO entry, as suspected, does not point to the hepatobiliary system being the only one affected (and that would be a phenotype/symptom anyway):
"Symptomatic form of hemochromatosis type 1 is a rare, hereditary hemochromatosis characterized by inappropriately regulated intestinal iron absorption which leads to excessive iron storage in various organs and manifests with a wide range of signs and symptoms, including abdominal pain, weakness, lethargy, weight loss, elevated serum aminotransferase levels, increase in skin pigmentation, and/or arthropathy in the metacarpophalangeal joints. Other commonly associated manifestations include hepatomegaly, cirrhosis, liver fibrosis, hepatocellular carcinoma, restrictive cardiomyopathy and/or diabetes mellitus."
Therefore,

@paolaroncaglia
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paolaroncaglia commented May 19, 2022

Update:
MONDO:0021001 hemochromatosis type 1 is now, correctly,
Subclass of:
hereditary hemochromatosis
has modifier some not rare
So to address this ticket, all other subclasses of EFO:0006513 hereditary hemochromatosis type 1 should be removed please.

@paolaroncaglia
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@zoependlington

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