Rare Disease Library

Congenital pericardium anomaly

Congenital plasminogen activator inhibitor type 1 deficiency

Congenital PAI-1 deficiency

Congenital portosystemic shunt

Congenital portosystemic venous fistula

Congenital primary aphakia

Congenital primary megaureter

Congenital primary megalo-ureter

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Congenital symblepharon

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 toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheomalacia

Congenital major airway collapse

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Congenital urachal anomaly

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Hemophilia A

Congenital Factor VIII deficiency · Congenital F8 deficiency

Hemophilia B

Congenital F9 deficiency · Christmas disease

Isolated growth hormone deficiency type IA

Congenital IGHD type IA · Congenital isolated GH deficiency type IA

Isolated growth hormone deficiency type IB

Congenital IGHD type IB · Congenital isolated GH deficiency type IB

Isolated growth hormone deficiency type II

Congenital IGHD type II · Congenital isolated GH deficiency type II

Isolated growth hormone deficiency type III

Congenital IGHD type III · Congenital isolated GH deficiency type III

Leber congenital amaurosis

Amaurosis congenita of Leber

Non-acquired combined pituitary hormone deficiency

Congenital combined pituitary hormone deficiency · Congenital hypopituitarism

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

OBSOLETE: Congenital neuronal ceroid lipofuscinosis

OBSOLETE: Congenital NCL

Pachyonychia congenita

PC

Paramyotonia congenita of Von Eulenburg

Paramyotonia congenita

Partial pancreatic agenesis

Congenital pancreatic agenesis · Partial agenesis of the pancreas

Peripheral congenital arteriovenous fistula

Peripheral congenital AVF

Peters anomaly

Peters congenital glaucoma

Primary syringomyelia

Congenital syringomyelia

Proboscis lateralis

Congenital tubular nose

Thomsen and Becker disease

Myotonia congenita

Tritanopia

Blue colour blindness · Congenital tritanopia

Worster-Drought syndrome

Congenital suprabulbar paresis