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"

62 matching diseasesClear search ×

OBSOLETE: Primary T cell immunodeficiency

ORPHA:2284

PGM3-CDG

CID due to PGM3 deficiency · Combined immunodeficiency due to PGM3 deficiency

ORPHA:443811

Pituitary deficiency

ORPHA:101957

Primary adrenal insufficiency

ORPHA:101958

Primary CD59 deficiency

ORPHA:169464

Severe combined immunodeficiency

SCID

ORPHA:183660

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

ORPHA:169095

Syndrome with combined immunodeficiency

ORPHA:331217

Systemic primary carnitine deficiency

CDSP · CUD

ORPHA:158

T-B- severe combined immunodeficiency

T-B- SCID

ORPHA:317419

T-B+ severe combined immunodeficiency

T-B+ SCID

ORPHA:317416

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency due to RHOH deficiency

ORPHA:324294

T+ B+ severe combined immunodeficiency

ORPHA:397802

XMEN

CID due to MAGT1 deficiency · Combined immunodeficiency due to MAGT1 deficiency

ORPHA:317476