Diseases · Entity Annotation Prototype (beta)

3articles mentioning diseases

3disease mentions

1distinct diseases extracted

0%of mentions human-reviewed

Active filtersEntity: congenital adrenal hyperplasia ×

congenital adrenal hyperplasia

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congenital adrenal hyperplasia3

Articles mentioning congenital adrenal hyperplasia

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 · 1 matching annotations

95.5%

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…

Incidence, causes and outcome of term infants presenting with hyponatraemia and hyperkalaemia: population surveillance study in Wales

archdischild · abstract · 2026-04-29 · 1 matching annotations

87.1%

infected urinary tract malformations congenital adrenal hyperplasia hyperkalaemia hyponatraemia Welsh Paediatric Surveillance Unit aldosterone

…rplasia (CAH), or renal resistance to aldosterone, for example, infected urinary tract malformations. Although incidence figures for individual conditions exist, th…

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

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

93.6%

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…