Rare Disease Library

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Familial isolated café-au-lait macules

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

Familial supernumerary nipples

Isolated polythelia

Idiopathic catatonia

Isolated catatonia · Isolated catatonic syndrome

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 delta-storage pool disease

Isolated delta-SPD · Isolated dense-SPD

Isolated dystonia

Pure dystonia

Isolated epispadias

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

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 punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

Levocardia

Isolated levocardia · Levocardia with situs inversus

Non-syndromic sagittal craniosynostosis

Isolated scaphocephaly · Isolated sagittal craniosynostosis

Spina bifida and other spinal dysraphisms

Isolated spina bifida · Isolated spinal dysraphism