Rare Disease Library

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital achiasma

Congenital alacrima

Congenital cornea plana

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital ectropion

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital laryngeal palsy

Congenital vocal cord paralysis

Congenital long QT syndrome

Congenital LQTS

Congenital microcoria

Congenital miosis

Congenital myopathy

Congenital myotonia

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

Congenital pancreatic cyst

Neonatal congenital pancreatic cyst · True congenital pancreatic cyst

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital syphilis

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

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Familial congenital palsy of trochlear nerve

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

Tritanopia

Blue colour blindness · Congenital tritanopia