[Revise subclass] MONDO:0019391 fanconi anemia

[ValWood]

Mondo term (ID and Label)

MONDO:0019391 fanconia anemia

is a subclass of
telomere syndrome and dyostosis but it does not appear to be either of these?

Suggested revision and reasons

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[sagehrke]

Dear @ValWood,
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[yshwetar]

Fanconi Anemia is a subclass of Telomere Syndrome:

Fanconi Anemia: "Mutation of Fanconi anemia genes results in impaired double-stranded DNA repair." per https://www.ncbi.nlm.nih.gov/books/NBK559133/ PMID:32644559

Telomere Syndrome: "Although the Mendelian telomere disorders have diverse clinical presentations, they share an underlying defect of short telomere length." per https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548426/ PMID:22965356

Though articles have investigated the similarities of a Telomere Syndrome and Fanconi Anemia (such as: https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9453478/ PMID:36091172), the underlying mechanism of Telomere Syndrome is not present in Fanconi Anemia. Recommend removing the term Telomere Syndrome.

Fanconi Anemia is a subclass of Telomere Syndrome:

Fanconi Anemia appears to present as a Dysostoses by definition, however is not labeled that anywhere in my literature search. Dysostosis seems to be used to describe disorders with specific patterns of bone development. Recommend removing the term Dysotosis.