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"

12 matching diseasesClear search ×

Hereditary angioedema with C1Inh deficiency

HAE · HAE with C1 inhibitor deficiency

ORPHA:528623

Acquired angioedema

AAE · Acquired C1 inhibitor deficiency

ORPHA:91385

Acquired angioedema with C1Inh deficiency

Acquired angioneurotic edema with C1 inhibitor deficiency · Acquired angioneurotic edema with C1Inh deficiency

ORPHA:528663

Alpha-1-antitrypsin deficiency

Alpha1-antitrypsin deficiency · Alpha-1-proteinase inhibitor deficiency

ORPHA:60

F12-related hereditary angioedema with normal C1Inh

F12-related HAE with normal C1 inhibitor · HAE

ORPHA:100054

Hemolytic uremic syndrome with DGKE deficiency

HUS with DGKE deficiency

ORPHA:357008

Hereditary angioedema with normal C1Inh

HAE · HAE with normal C1 inhibitor

ORPHA:528647

Histidinemia

HAL deficiency · HIS deficiency

ORPHA:2157

Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency

HIBCH deficiency · Methacrylic aciduria

ORPHA:88639

OBSOLETE: C1 inhibitor deficiency

ORPHA:459353

PLG-related hereditary angioedema with normal C1Inh

HAE · PLG-related HAE with normal C1 inhibitor

ORPHA:537072

Recurrent infections associated with rare immunoglobulin isotypes deficiency

IgG subclass deficiency with IgA subclass deficiency · Isolated IgG subclass deficiency

ORPHA:183675