Rare Disease Library

Diamond-Blackfan anemia

Diamond-Blackfan anemia syndrome · Congenital PRCA

Acetazolamide-responsive myotonia

ACZ-responsive congenital myotonia · ACZ-responsive myotonia

Amniotic band syndrome

Congenital constriction ring syndrome · Congenital ring constrictions

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital achiasma

Congenital agenesis of the scrotum

Congenital scrotal agenesis · Congenital absence of the scrotum

Congenital alacrima

Congenital amyoplasia

Amyoplasia congenita

Congenital analbuminemia

Congenital chylothorax

Congenital CLN10 disease

CNCL · Congenital neuronal ceroid lipofuscinosis type 10

Congenital cornea plana

Congenital cystic eye

Congenital anophthalmos with cyst

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 esophageal diverticulum

Congenital esophageal pouch

Congenital factor VII deficiency

Congenital proconvertin deficiency · Hypoproconvertinemia

Congenital genu flexum

Congenital genu recurvatum

Congenital Gerbode defect

Left ventricular-to-right atrial communication

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital heart block

Congenital atrioventricular block

Congenital hemangioma

Congenital hydrocephalus

Congenital hypothyroidism

Congenital intrinsic factor deficiency

Congenital pernicious anemia · Gastric intrinsic factor deficiency

Congenital laryngeal cyst

Congenital laryngeal palsy

Congenital vocal cord paralysis

Congenital laryngomalacia

Congenital long QT syndrome

Congenital LQTS

Congenital macroglossia

Congenital megacalycosis

Congenital megaprepuce

Isolated congenital buried penis

Congenital microcoria

Congenital miosis

Congenital microgastria

Congenital mitral stenosis

Congenital myopathy

Congenital myotonia

Congenital neutropenia

Constitutional neutropenia

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 primary aphakia

Congenital primary megaureter

Congenital primary megalo-ureter

Congenital ptosis

Congenital pulmonary vein atresia

Congenital PVA · CPVA

Congenital short QT syndrome

Congenital SQTS