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"

7 matching diseasesClear search ×

PMP2-related Charcot-Marie-Tooth disease type 1

PMP2-related CMT1 · PMP2-related Charcot-Marie-Tooth neuropathy type 1

ORPHA:476394

Autosomal dominant Charcot-Marie-Tooth disease type 2DD

CMT2DD · ATP1A1-related autosomal dominant Charcot-Marie-Tooth disease type 2

ORPHA:521414

CNTNAP2-related developmental and epileptic encephalopathy

CDFE syndrome · CDFES

ORPHA:163681

DNAJB2-related Charcot-Marie-Tooth disease type 2

DNAJB2-related CMT2

ORPHA:443950

POMT1-related limb-girdle muscular dystrophy R11

Autosomal recessive limb-girdle muscular dystrophy type 2K · POMT1-related LGMD R11

ORPHA:86812

RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome

RAC2-related CID · Combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome related to Rac family small GTPase 2

ORPHA:692812

SURF1-related Charcot-Marie-Tooth disease type 4

CMT4K · Charcot-Marie-Tooth disease type 4K

ORPHA:391351