Diseases · Entity Annotation Prototype (beta)

1articles mentioning diseases

1disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: Coffin Siris syndrome ×

Coffin Siris syndrome

This disease is selected. Its supporting articles are shown below.

Coffin Siris syndrome1

Articles mentioning Coffin Siris syndrome

1 articles · page 1 of 1

P20 Long-read sequencing increases the diagnostic rate for rare diseases

jmedgenet · abstract · 2026-01-28 · 1 matching annotations

97.2%

Coffin Siris syndrome Roifman syndrome Familial Adenomatous Polyposis monogenic disorders NHS NHS England

…ology in an additional 11% of patients including a diagnosis of Coffin Siris syndrome, Familial Adenomatous Polyposis and Roifman syndrome. We will d…

Browse diseases

Coffin Siris syndrome

Articles mentioning Coffin Siris syndrome

P20 Long-read sequencing increases the diagnostic rate for rare diseases