Diseases · Entity Annotation Prototype (beta)

2articles mentioning diseases

2disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: Congenital adrenal hyperplasia (CAH) ×

Congenital adrenal hyperplasia (CAH)

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

Congenital adrenal hyperplasia (CAH)2

Articles mentioning Congenital adrenal hyperplasia (CAH)

2 articles · page 1 of 1

Haplotype studies and the use of a nearby tagging variant confirm a founder origin for an intragenic CYP11B1 inversion

jmedgenet · abstract · 2026-02-20 · 1 matching annotations

92.6%

congenital adrenal hyperplasia (CAH)11β-hydroxylase deficiency UK Biobank 100 000 Genomes Project

…1β-hydroxylase deficiency and clinical features consistent with congenital adrenal hyperplasia (CAH).1 A single paternally inherited frameshift variant in CYP11B1 p…

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

83.9%

CAH Congenital adrenal hyperplasia (CAH)Amsterdam UMC