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 ×

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

ORPHA:35078

T-cell immunodeficiency with thymic aplasia

Nezelof syndrome · Isolated congenital athymia

ORPHA:83471

T+ B+ severe combined immunodeficiency

ORPHA:397802

X-linked combined immunodeficiency due to SASH3 deficiency

X-linked CID due to SASH3 deficiency

ORPHA:653751

XMEN

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

ORPHA:317476