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"

5 matching diseasesClear search ×

Punctate palmoplantar keratoderma type 1

Buschke-Fischer-Brauer syndrome · Keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

ORPHA:79501

Acrokeratoelastoidosis of Costa

AKE · PPKP3

ORPHA:38

Diffuse palmoplantar keratoderma, Bothnian type

Diffuse palmoplantar keratoderma, Bothnia type · NEPPK, Bothnian type

ORPHA:2337

Palmoplantar keratoderma, Nagashima type

PPK, Nagashima type · Palmoplantar hyperkeratosis, Nagashima type

ORPHA:140966

Punctate palmoplantar keratoderma type 2

PPKP2 · PPPP

ORPHA:79502