Rare Disease Library

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital complete agenesis of pericardium

Congenital microcoria

Congenital miosis

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

Congenital partial agenesis of pericardium

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Pancreatic agenesis-holoprosencephaly syndrome

Pancreatic hypoplasia-diabetes-congenital heart disease syndrome

Pancreatic agenesis and congenital heart defects syndrome · Yorifuji-Okuno syndrome

Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome

Pancreatic and cerebellar agenesis

Worster-Drought syndrome

Congenital suprabulbar paresis