Rare Disease Library

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital achiasma

Congenital alacrima

Congenital bilateral absence of vas deferens

Congenital bilateral agenesis of vas deferens · Congenital bilateral aplasia of vas deferens

Congenital complete agenesis of pericardium

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital esophageal stenosis

CES · Congenital oesophageal stenosis

Congenital long QT syndrome

Congenital LQTS

Congenital megacalycosis

Congenital microcoria

Congenital miosis

Congenital mitral stenosis

Congenital partial agenesis of pericardium

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital renal artery stenosis

Congenital renovascular hypoplasia

Congenital short QT syndrome

Congenital SQTS

Congenital sialidosis type 2

Congenital syphilis

Mother-to-child transmission of syphilis · MTCT of syphilis

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheal stenosis

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Esophageal atresia

CEA · Congenital esophageal atresia

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Leber congenital amaurosis

Amaurosis congenita of Leber

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Worster-Drought syndrome

Congenital suprabulbar paresis