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Add Wieacker-Wolff syndrome subtypes #1401

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csbjohnson opened this issue Oct 29, 2024 · 1 comment
Open

Add Wieacker-Wolff syndrome subtypes #1401

csbjohnson opened this issue Oct 29, 2024 · 1 comment
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@csbjohnson
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csbjohnson commented Oct 29, 2024

MIM:PS314580

Curation notes on Wieacker-Wolff syndrome subtypes.

@lschriml
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I searched DO, by the synonyms in the OMIM record
MIM:314580. (Wieacker-Wolff syndrome).
Also good to start by searching DO for the OMIM ID.
We have this OMIM ID in the DO, Miles-Carpenter syndrome
-- I see OMIM has a different name for this disease
Next:
look for both names in PubMed/other resources
-- Google both names

--> the most currently used name for this disease is:
Wieacker-Wolff syndrome

I noted that Wieacker-Wolff syndrome. is X-linked recessive and that
female-restricted Wieacker-Wolff syndrome is X-linked dominant
MIM:301041. -- is not in the DO

-- Noticed the phenotypic series is called the same name as the
one disease:
Wieacker-Wolff syndrome - PS314580
Wieacker-Wolff syndrome MIM:314580
female-restricted Wieacker-Wolff syndrome MIM:301041)

-- I would keep the two records as sibling terms, would not create the parent class.
I would add the PS # as a comment: disease and PS have same label

--> let's preserve OMIM's representation of these diseases.

@lschriml lschriml removed their assignment Nov 19, 2024
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