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congenital adrenal hyperplasia
(phenotype)
Summary
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Genetic Markers
Most Correlated Genes
Most Correlated SNPs
CYP17A1
CYP11A1
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CYP11B1
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Pathway Enrichment
Most Correlated Biogroups
REACTOME_STEROID_HORMONES
REACTOME_METABOLISM_OF_STEROID_HORMONES_AND_VITAMINS_A_AND_D
hormone biosynthetic process
steroid biosynthetic process
hormone metabolic process
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Curated Studies
Most Correlated Studies
OMIM - Metabolic disease
OMIM - Adrenal hyperplasias
Mouse Phenotypes - Autosomal recessive hereditary disorder
Endometrial hyperplasia and carcinoma
OMIM - Congenital disorder
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Literature
Most Relevant Literature
Anorexia nervosa in a patient with congenital adrenal hyperplasia.
Prenatal treatment of congenital adrenal hyperplasia: risks outweigh benefits.
Genotype-phenotype correlation in 153 adult patients with congenital adrenal hyperplasia due to 21-h…
CYP21A2 p.E238 deletion as result of multiple microconversion events: a genetic study on an Italian …
Common mutations of congenital adrenal hyperplasia are also the hotspots for new mutations].
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Clinical Trials
Most Relevant Clinical Trials
Congenital Adrenal Hyperplasia Once Daily Hydrocortisone Treatment
Dexamethasone Treatment of Congenital Adrenal Hyperplasia
Effects of Pioglitazone in Congenital Adrenal Hyperplasia
Study of UK Adults With Congenital Adrenal Hyperplasia.
Congenital Adrenal Hyperplasia: Calcium Channels as Therapeutic Targets
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