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 LAT deficiency

SCID due to LAT deficiency

ORPHA:504523

T-B+ severe combined immunodeficiency due to CD45 deficiency

T-B+ SCID due to CD45 deficiency

ORPHA:169157

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

ORPHA:35078

X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency

X-linked CVID phenotype due to SH3KBP1 deficiency · X-linked common variable immunodeficiency phenotype due to SH3-domain kinase-binding protein 1 deficiency

ORPHA:696945

XMEN

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

ORPHA:317476