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 ×

Autosomal dominant intermediate Charcot-Marie-Tooth disease type E

CMTDIE · Charcot-Marie-Tooth disease-nephropathy syndrome

ORPHA:93114

Autosomal dominant intermediate Charcot-Marie-Tooth disease

CMTDI

ORPHA:90114

Autosomal dominant intermediate Charcot-Marie-Tooth disease type A

CMTDIA

ORPHA:100043

Autosomal dominant intermediate Charcot-Marie-Tooth disease type B

CMTDIB

ORPHA:100044

Autosomal dominant intermediate Charcot-Marie-Tooth disease type C

CMTDIC

ORPHA:100045

Autosomal dominant intermediate Charcot-Marie-Tooth disease type D

CMTDID

ORPHA:100046

Autosomal dominant intermediate Charcot-Marie-Tooth disease type F

CMTDIF

ORPHA:352670