Rare Disease Library

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

Familial isolated café-au-lait macules

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

Focal palmoplantar keratoderma

Focal PPK · Focal keratosis palmoplantaris

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

Isolated adrenal medullary hyperplasia

Isolated AMH

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

Isolated congenital hepatic fibrosis

Isolated CHF

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

Isolated familial medullary thyroid carcinoma

Hereditary isolated MTC · Isolated familial MTC

Isolated focal cortical dysplasia

Epilepsy due to FCD

Isolated focal cortical dysplasia type I

FCD type I

Isolated focal cortical dysplasia type Ia

FCD type Ia

Isolated foveal hypoplasia

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 proximal femoral focal deficiency

PFFD · CPFD

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

Isolated sternocostoclavicular hyperostosis

Isolated SCCH