Rare Disease Library

Congenital short QT syndrome

Congenital SQTS

Congenital sialidosis type 2

Congenital sodium diarrhea

Na-H exchanger 3 deficiency · CSD

Congenital stenosis of the inferior vena cava

Congenital stenosis of the IVC · Congenital stenosis of the inferior caval vein

Congenital symblepharon

Congenital syphilis

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

Congenital temporomandibular joint ankylosis

Congenital trismus

Congenital toxoplasmosis

Toxoplasma embryofetopathy · Toxoplasma embryopathy

Congenital tracheal stenosis

Congenital tracheomalacia

Congenital major airway collapse

Congenital tricuspid stenosis

Congenital trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

Congenital tufting enteropathy

Intestinal epithelial dysplasia · IED

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

Hereditary pulmonary alveolar proteinosis

Congenital PAP · Congenital pulmonary alveolar proteinosis

Ichthyosis-prematurity syndrome

Congenital ichthyosis type 4 · IPS

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

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