Rare Disease Library

Congenital malformation of the eye with glaucoma as a major feature

Congenital malformation of the eyelid

Coronary artery congenital malformation

Genetic congenital malformation of the eye with glaucoma as a major feature

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Anorectal malformation

ARM

Aortic malformation

Arnold-Chiari malformation type I

Arnold-Chiari malformation type 1 · Chiari malformation type 1

Bronchial malformation

Cerebellar malformation

Cochleovestibular malformation

Common cystic lymphatic malformation

Communicating congenital bronchopulmonary-foregut malformation

Congenital ectropion

Congenital Epstein-Barr virus infection

Antenatal Epstein-Barr virus infection · Mother-to-child transmission of Epstein-Barr virus infection

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital eyelid retraction

Congenital joint dislocations

Congenital knee dislocation

Congenital limb malformation

Congenital lobar emphysema

Congenital lobar hyperinflation · Infantile lobar hyperinflation

Congenital long QT syndrome

Congenital LQTS

Congenital macroglossia

Congenital microcoria

Congenital miosis

Congenital mitral malformation

Congenital myopathy

Congenital myotonia

Congenital oculomotor nerve palsy

Congenital CNIII lesion · Congenital third cranial nerve palsy

Congenital optic disc excavation

Congenital patella dislocation

Congenital ptosis

Congenital pulmonary airway malformation

CCAM · CPAM

Congenital pulmonary airway malformation type 0

CPAM type 0 · Congenital cystic adenomatoid malformation of the lung type 0

Congenital pulmonary airway malformation type 1

CCAM type 1 · CPAM type 1

Congenital pulmonary airway malformation type 2

CCAM type 2 · CPAM type 2

Congenital pulmonary airway malformation type 3

CCAM type 3 · CPAM type 3

Congenital pulmonary airway malformation type 4

CPAM type 4 · Congenital cystic adenomatoid malformation of the lung type 4

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS

Congenital thrombotic thrombocytopenic purpura

Congenital ADAMTS-13 deficiency · Congenital TTP

Congenital thyroid malformation without hypothyroidism

Congenital tricuspid malformation

Congenitally uncorrected transposition of the great arteries with cardiac malformation

Congenitally uncorrected transposition of the great vessels with cardiac malformation · TGA with cardiac malformation

Conotruncal heart malformations

Cranial malformation

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Esophageal malformation

Malformation of the esophagus

Gastroduodenal malformation

Malformation of the stomach and the duodenum