Rare Disease Library

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

Autoimmune lymphoproliferative syndrome

ALPS · Canale-Smith syndrome

Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency

ALPS due to CTLA4 haploinsuffiency · CHAI

Blepharophimosis-intellectual disability syndrome, MKB type

BMRS, MKB type · BMRS, Maat-Kievit-Brunner type

Feingold syndrome type 1

Brunner-Winter syndrome type 1 · Digital anomalies with short palpebral fissures and atresia of esophagus or duodenum type 1

Immunodeficiency by defective expression of MHC class I

MHC class I deficiency · Bare lymphocyte syndrome type 1

Immunodeficiency by defective expression of MHC class II

MHC class II deficiency · Bare lymphocyte syndrome type 2

Inherited cancer-predisposing lymphoproliferative syndrome

McLeod neuroacanthocytosis syndrome

MLS · X-linked McLeod syndrome

Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement

8p11 myeloproliferative syndrome · Stem cell leukemia/lymphoma

OBSOLETE: Lymphoproliferative syndrome

Transient myeloproliferative syndrome

TMD · Transient abnormal myelopoiesis

X-linked Alport syndrome

X-linked hyper-IgM syndrome

HIGM1 · Hyper-IgM syndrome due to CD40 ligand deficiency

X-linked lymphoproliferative disease

Duncan disease · Purtilo syndrome

X-linked lymphoproliferative disease due to XIAP deficiency

X-linked lymphoproliferative syndrome type 2 · XLP2

X-linked neurodegenerative syndrome, Bertini type

X-linked neurodegenerative syndrome, Hamel type