Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

14 matching diseasesClear search ×

Isolated punctate palmoplantar keratoderma

Isolated punctate PPK · Isolated punctate palmoplantar hyperkeratosis

ORPHA:2338

Acute necrotizing encephalopathy of childhood

ANEC · Isolated ANE

ORPHA:263524

Hereditary steroid-resistant nephrotic syndrome

Familial idiopathic steroid-resistant nephrotic syndrome · Hereditary SRNS

ORPHA:656

Isolated adrenal medullary hyperplasia

Isolated AMH

ORPHA:688649

Isolated childhood apraxia of speech

Isolated developmental verbal dyspraxia · Pure childhood apraxia of speech

ORPHA:209908

Isolated congenital hepatic fibrosis

Isolated CHF

ORPHA:485426

Isolated diffuse palmoplantar keratoderma

Isolated diffuse PPK · Isolated diffuse keratosis palmoplantaris

ORPHA:307148

Isolated focal palmoplantar keratoderma

Isolated focal PPK · Isolated focal keratosis palmoplantaris

ORPHA:307846

Isolated idiopathic anterior uveitis

Isolated IAU

ORPHA:280914

Isolated permanent neonatal diabetes mellitus

Monogenic diabetes of infancy · Isolated PNDM

ORPHA:99885

Isolated persistent urogenital sinus

Isolated PUGS

ORPHA:647794

Isolated primary pigmented nodular adrenocortical disease

i-PPNAD · Isolated PPNAD

ORPHA:647772

Isolated sternocostoclavicular hyperostosis

Isolated SCCH

ORPHA:178311

Punctate palmoplantar keratoderma

Punctate PPK · Punctate keratosis palmoplantaris

ORPHA:307967