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"

57 matching diseasesClear search ×

Short-limb skeletal dysplasia with severe combined immunodeficiency

Achondroplasia-SCID syndrome · Achondroplasia-Swiss type agammaglobulinemia syndrome

ORPHA:935

Syndome with combined immunodeficiency due to thymic defect

ORPHA:331220

Syndrome with combined immunodeficiency

ORPHA:331217

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 gamma chain deficiency

SCIDX1 · T-B+ SCID due to gamma chain deficiency

ORPHA:276

T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency

T-B+ SCID due to IL-7Ralpha deficiency

ORPHA:169154

T-B+ severe combined immunodeficiency due to JAK3 deficiency

T-B+ SCID due to JAK3 deficiency

ORPHA:35078

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