Diseases · Entity Annotation Prototype (beta)

3articles mentioning diseases

3disease mentions

1distinct diseases extracted

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Active filtersEntity: Monogenic disorders ×

Monogenic disorders

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Monogenic disorders3

Articles mentioning Monogenic disorders

3 articles · page 1 of 1

Inherited variants in autosomal dominant disease genes are a significant cause of fetal structural anomalies

jmedgenet · abstract · 2026-04-20 · 1 matching annotations

95.9%

Monogenic disorders type I/II collagen disorders Autosomal dominant disorders fetal structural anomalies rasopathies

…Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic d…

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

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

76.9%

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…

Advancing genotype-phenotype analysis through 3D facial morphometry: insights from Cri-du-Chat syndrome

jmedgenet · abstract · 2026-01-20 · 1 matching annotations

75.2%

CdCS Cri-du-Chat syndrome facial dysmorphism monogenic disorders

… It provides insights into the genetic basis of facial shape in CdCS and highlights the potential of 3D morphometric techniques to f…