Rare Disease Database

Congenital Adrenal Hyperplasia

Also known as: adrenogenital syndrome CAH

Congenital Afibrinogenemia

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Congenital Athymia

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Congenital Bilateral Perisylvian Syndrome

Also known as: CBPS

Congenital Central Hypoventilation Syndrome

Also known as: congenital failure of respiratory drive CCHS HADDAD syndrome Ondine’s curse

Congenital Contractural Arachnodactyly

Also known as: CCA Beals syndrome Beals-Hecht syndrome arthrogryposis, distal, type 9

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Congenital Disorders of Glycosylation

Also known as: CDG CDG syndrome carbohydrate-deficient glycoprotein syndromes

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Congenital Erythropoietic Porphyria

Also known as: CEP Gunther disease uroporphyrinogen III synthase deficiency UROS deficiency

Congenital Fiber Type Disproportion

Also known as: CFTD CFTDM congenital myopathy with fiber-type disproportion

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Congenital Fibrosis of the Extraocular Muscles

Also known as: congenital fibrosis syndrome

Congenital Generalized Lipodystrophy

Also known as: Berardinelli-Seip syndrome Berardinelli Seip congenital lipodystrophy BSCL CGL congenital lipoatrophic diabetes

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Congenital Heart Block

Also known as: atrioventricular (AV) block CHB

Congenital Hepatic Fibrosis

Also known as: CHF

Congenital Hyperinsulinism

Also known as: CHI familial hyperinsulinism HI islet cell dysregulation syndrome nesidioblastosis (antiquated) persistent hyperinsulinemic hypoglycemia of infancy (PHHI)

Congenital Lactic Acidosis