Diseases · Entity Annotation Prototype (beta)

3articles mentioning diseases

8disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

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CAH

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CAH3

Articles mentioning CAH

3 articles · page 1 of 1

Human phenotype ontology clustering may uncover potential congenital adrenal hyperplasia cases in the 100 000 Genomes Project

bmjccgg · abstract · 2026-05-08 · 6 matching annotations

88.1%

congenital adrenal hyperplasia CAH 100 000 Genomes Project

… datasets but have not yet been exploited to detect undiagnosed congenital adrenal hyperplasia (CAH). We asked whether clustering CAH-relevant HPO terms could…

21-deoxycortisol as a second-tier test in congenital adrenal hyperplasia newborn screening in The Netherlands: two-year evaluation

archdischild · abstract · 2025-12-15 · 1 matching annotations

89.3%

CAH Congenital adrenal hyperplasia (CAH)Amsterdam UMC

…ults: 15 had a positive 21-DF and were diagnosed with classical CAH (genetically confirmed), while five were first-tier false-posit…

First intragenic inversion of CYP11B1 gene causing 11β-hydroxylase deficiency: a molecular diagnosis easily overlooked

jmedgenet · abstract · 2025-10-20 · 1 matching annotations

83.4%

congenital adrenal hyperplasia 11β-hydroxylase deficiency CAH 11βOHD

…ase deficiency (11βOHD) is the second most common cause (5%) of congenital adrenal hyperplasia (CAH). The CYP11B1 gene shares 95% of genomic sequence homology…