Rare Disease Library

Levocardia

Isolated levocardia · Levocardia with situs inversus

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Isolated acheiria

Isolated congenital absence of hand

Isolated acheiropodia

Isolated acheiropody

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated amyelia

Isolated aniridia

Isolated apodia

Isolated congenital absence of foot

Isolated arrhinia

Isolated nose agenesis

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated dystonia

Pure dystonia

Isolated ectopia lentis

Ectopia lentis syndrome · Familial ectopia lentis

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

Isolated persistent urogenital sinus

Isolated PUGS

Isolated sternocostoclavicular hyperostosis

Isolated SCCH