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"

13 matching diseasesClear search ×

EBV-induced lymphoproliferative disease due to CD70 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to CD70 molecule deficiency

ORPHA:538958

Combined immunodeficiency due to CD27 deficiency

CD27 deficiency · Autosomal recessive lymphoproliferative disease due to CD27 deficiency

ORPHA:238505

Combined immunodeficiency due to ITK deficiency

ITK deficiency · Autosomal recessive lymphoproliferative disease due to ITK deficiency

ORPHA:538963

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

EBV-induced lymphoproliferative disease due to capping protein regulator and myosin 1 linker 2 deficiency

ORPHA:542301

EBV-induced lymphoproliferative disease due to CD137 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Cell differentiation 137 protein deficiency

ORPHA:664726

EBV-induced lymphoproliferative disease due to PRKCD deficiency

EBV-induced lymphoproliferative disease due to protein kinase C delta deficiency

ORPHA:664711

EBV-induced lymphoproliferative disease due to RASGRP1 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to Ras guanyl nucleotide-releasing protein 1 deficiency

ORPHA:664699

EBV-induced lymphoproliferative disease due to TET2 deficiency

Epstein-Barr virus-induced lymphoproliferative disease due to tet methylcytosine dioxygenase 2 deficiency

ORPHA:664729

Epstein-Barr virus-associated malignant lymphoproliferative disorder

EBV-associated lymphoproliferative disorder

ORPHA:289644

Immunodeficiency-associated lymphoproliferative disease

ORPHA:98290

Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood

Systemic EBV+ T-cell LPD of childhood · Systemic EBV-positive T-cell lymphoproliferative disease of childhood

ORPHA:364033

X-linked lymphoproliferative disease due to SAP deficiency

X-linked lymphoproliferative disease due to SH2 domain containing 1A protein deficiency · X-linked lymphoproliferative disease due to SH2D1A deficiency

ORPHA:538931

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2

ORPHA:538934