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"

61 matching diseasesClear search ×

Properdin deficiency

ORPHA:2966

Protein S acquired deficiency

ORPHA:26349

Purine nucleoside phosphorylase deficiency

PNP deficiency · PNPase deficiency

ORPHA:760

Severe combined immunodeficiency

SCID

ORPHA:183660

Severe combined immunodeficiency due to CORO1A deficiency

SCID due to CORO1A deficiency · SCID due to coronin-1A deficiency

ORPHA:228003

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 FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

ORPHA:169095

Severe combined immunodeficiency due to LAT deficiency

SCID due to LAT deficiency

ORPHA:504523

T-B- severe combined immunodeficiency

T-B- SCID

ORPHA:317419

T-B+ severe combined immunodeficiency

T-B+ SCID

ORPHA:317416

T+ B+ severe combined immunodeficiency

ORPHA:397802

XMEN

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

ORPHA:317476