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"

6 matching diseasesClear search ×

Naegeli-Franceschetti-Jadassohn syndrome

NFJ syndrome · Naegeli syndrome

ORPHA:69087

Zinc-responsive necrolytic acral erythema

NAE · Necrolytic acral erythema

ORPHA:439196

Syringocystadenoma papilliferum

Papillary syringocystadenoma · Fistulous vegetative verrucous hydradenoma

ORPHA:840

Intellectual disability-cataracts-calcified pinnae-myopathy syndrome

Primrose syndrome

ORPHA:3042

Pinnae and external auditory canal anomaly

ORPHA:156243

Pinnae fistula or cyst

ORPHA:155838