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 recessive intermediate Charcot-Marie-Tooth disease type A

RI-CMT type A

ORPHA:217055

Autosomal recessive intermediate Charcot-Marie-Tooth disease

RI-CMT

ORPHA:268337

Autosomal recessive intermediate Charcot-Marie-Tooth disease type B

RI-CMT type B

ORPHA:254334

Autosomal recessive intermediate Charcot-Marie-Tooth disease type C

RI-CMT type C

ORPHA:369867

Autosomal recessive intermediate Charcot-Marie-Tooth disease type D

RI-CMT type D

ORPHA:435998

Peeling skin syndrome type A

Generalized peeling skin syndrome type A · Non-inflammatory generalized peeling skin syndrome type A.

ORPHA:263548

Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A

Combined deficiency of sulfite oxidase, xanthine dehydrogenase and aldehyde oxidase type A · MOCOD type A

ORPHA:308386