Rare Disease Library

Congenital vertical talus

Congenital convex foot · Congenital convex pes valgus

Congenital abducens nerve palsy

Benign congenital sixth cranial nerve palsy · Congenital CNVI palsy

Congenital achiasma

Congenital alacrima

Congenital amyoplasia

Amyoplasia congenita

Congenital chylothorax

Congenital cornea plana

Congenital cystic eye

Congenital anophthalmos with cyst

Congenital ectropion

Congenital epulis

Congenital gingival cell tumor · Congenital granular cell tumor

Congenital genu flexum

Congenital glaucoma

Buphthalmia · Buphthalmos

Congenital hemangioma

Congenital long QT syndrome

Congenital LQTS

Congenital microcoria

Congenital miosis

Congenital myopathy

Congenital myotonia

Congenital neutropenia

Constitutional neutropenia

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 trochlear nerve palsy

Congenital superior oblique palsy · Congenital CNIV palsy

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

Isolated apodia

Isolated congenital absence of foot

Non-acquired isolated growth hormone deficiency

Congenital IGHD · Congenital isolated GH deficiency

Tritanopia

Blue colour blindness · Congenital tritanopia