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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease kennedy disease
Comorbidity C0001627|congenital adrenal hyperplasia
Sentences 2
PubMedID- 23748066 Identification of novel mutations in star gene in patients with lipoid congenital adrenal hyperplasia: a first report from india.
PubMedID- 24907477 A novel androgen receptor gene mutation in a patient with congenital adrenal hyperplasia associated with penoscrotal hypospadias.

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