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"

53 matching diseasesClear search ×

Severe combined immunodeficiency due to CTPS1 deficiency

SCID due to CTPS1 deficiency

ORPHA:420573

Severe combined immunodeficiency due to DNA-PKcs deficiency

SCID due to DNA-PKcs deficiency

ORPHA:317425

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

ORPHA:504523

T-cell immunodeficiency with epidermodysplasia verruciformis

T-cell immunodeficiency due to RHOH deficiency

ORPHA:324294

XMEN

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

ORPHA:317476