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"

3 matching diseasesClear search ×

Autosomal recessive Charcot-Marie-Tooth disease type 2X

CMT2X · Autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation

ORPHA:466775

Autosomal recessive axonal neuropathy with neuromyotonia

ARAN-NM · ARCMT2-NM

ORPHA:324442

Autosomal recessive Charcot-Marie-Tooth disease with hoarseness

ARCMT2K · Autosomal recessive axonal CMT4C4

ORPHA:101097