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"

103 matching diseasesClear search ×

Pyruvate dehydrogenase E3 deficiency

DLD deficiency · Dihydrolipoamide dehydrogenase deficiency

ORPHA:2394

Severe congenital neutropenia due to G6PC3 deficiency

SCN due to G6PC3 deficiency · Severe congenital neutropenia due to glucose-6-phosphatase catalytic subunit 3 deficiency

ORPHA:331176

Severe congenital neutropenia due to JAGN1 deficiency

Severe congenital neutropenia due to jagunal homolog 1 deficiency · SCN due to JAGN1 deficiency

ORPHA:423384

Severe hemophilia A

Severe congenital factor VIII deficiency · Severe congenital F8 deficiency

ORPHA:169802

Severe hemophilia B

Severe congenital factor IX deficiency · Severe congenital F9 deficiency

ORPHA:169793

Transaldolase deficiency

TALDO deficiency

ORPHA:101028

Xanthinuria type I

XDH deficiency · XO deficiency

ORPHA:93601