Rare Disease Library

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Early-onset generalized limb-onset dystonia

Dystonia musculorum deformans · EOTD

Familial isolated café-au-lait macules

Familial isolated CALSs · Multiple isolated café-au-lait spots

Generalized isolated dystonia

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Isolated acheiria

Isolated congenital absence of hand

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 cleft lip

Isolated congenital anonychia

Isolated anonychia

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated dystonia

Pure dystonia

Isolated idiopathic anterior uveitis

Isolated IAU

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

Isolated persistent urogenital sinus

Isolated PUGS

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

Isolated sternocostoclavicular hyperostosis

Isolated SCCH