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"

5 matching diseasesClear search ×

T-B- severe combined immunodeficiency

T-B- SCID

ORPHA:317419

Non-severe combined immunodeficiency

Non-SCID

ORPHA:480549

Severe combined immunodeficiency

SCID

ORPHA:183660

Severe combined immunodeficiency due to FOXN1 deficiency

Alymphoid cystic thymic dysgenesis · Nude/SCID

ORPHA:169095

T-B+ severe combined immunodeficiency

T-B+ SCID

ORPHA:317416