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"

10 matching diseasesClear search ×

Familial hyperaldosteronism type III

FH-III · FH3

ORPHA:251274

COG5-CDG

CDG syndrome type IIi · CDG-IIi

ORPHA:263487

Congenital dyserythropoietic anemia type III

CDA III · CDA type 3

ORPHA:98870

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

Familial hyperaldosteronism

FH

ORPHA:235936

Familial hyperaldosteronism type I

Dexamethasone-sensitive hypertension · FH-I

ORPHA:403

Familial hyperaldosteronism type II

FH-II · FH2

ORPHA:404

Hypermobile Ehlers-Danlos syndrome

EDS-HT · Ehlers-Danlos syndrome hypermobility type

ORPHA:285

Leukocyte adhesion deficiency type III

LAD-1 variant · LAD-III

ORPHA:99844

Proximal spinal muscular atrophy type 3

Juvenile spinal muscular atrophy · Kugelberg-Welander disease

ORPHA:83419