Rare Disease Library

Cutaneous pseudolymphoma

Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder

PLA2G4A-related platelet dysfunction · Platelet dysfunction due to cytosolic phospholipase-A2 alpha deficiency

Dianzani autoimmune lymphoproliferative disease

DALD

Diffuse large B-cell lymphoma

Diffuse large B-cell lymphoma · DLBCL

Diffuse large B-cell lymphoma of the central nervous system

Diffuse large B-cell lymphoma · DLBCL

Diffuse large B-cell lymphoma with chronic inflammation

Diffuse large B-cell lymphoma · DLBCL

Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation

Disorder of glycosphingolipid and GPI-anchored proteins glycosylation

Disorder of pentose phosphate metabolism

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement

Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement

Dominant hypophosphatemia with nephrolithiasis or osteoporosis

Dystonia-aphonia syndrome

EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature

Epstein-Barr virus susceptibility with hemophagocytic lymphohistiocytosis as a major feature · Hemophagocytic lymphohistiocytosis

EBV-induced lymphoproliferative disease due to CARMIL2 deficiency

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

EBV-induced lymphoproliferative disease due to CD137 deficiency

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

EBV-induced lymphoproliferative disease due to CD70 deficiency

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

EBV-induced lymphoproliferative disease due to PRKCD deficiency

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

EBV-induced lymphoproliferative disease due to RASGRP1 deficiency

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

EBV-induced lymphoproliferative disease due to TET2 deficiency

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

Enteropathy-associated T-cell lymphoma

EATL · ETTL

Epithelioid trophoblastic tumor

Epstein-Barr virus-associated malignant lymphoproliferative disorder

EBV-associated lymphoproliferative disorder

Epstein-Barr virus-positive diffuse large B-cell lymphoma

Diffuse large B-cell lymphoma · DLBCL

Extranodal nasal NK/T cell lymphoma

Angiocentric T-cell lymphoma · Lethal midline granuloma

Familial calcium pyrophosphate deposition

Calcium pyrophosphate dihydrate crystal deposition disease · Familial CC

Familial hemophagocytic lymphohistiocytosis

Familial HLH · Hemophagocytic lymphohistiocytosis

Familial hyperinflammatory lymphoproliferative immunodeficiency

NCKAP1L-associated hyperinflammatory disorder · HEM1 deficiency syndrome

Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome

Hypercalcemic tumoral calcinosis

Familial normophosphatemic tumoral calcinosis

Familial scaphocephaly syndrome

Familial scaphocephaly syndrome, McGillivray type

Scaphocephaly-macrocephaly-maxillary retrusion-intellectual disability syndrome

Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3

Fatal mitochondrial disease due to COXPD3

Follicular lymphoma

FL · Follicular lymphoma

Fructose-1,6-bisphosphatase deficiency

FBPase deficiency · Fructose-1,6-diphosphatase deficiency

Genetic tumor of hematopoietic and lymphoid tissues

Gestational trophoblastic disease

Gestational trophoblastic neoplasm

GTN

Glycogen storage disease due to glucose-6-phosphatase deficiency

G6P deficiency · GSD due to G6P deficiency

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia

G6P deficiency type 1a · GSD type 1a

Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib

G6P translocase deficiency · G6PT deficiency

Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency

GSD due to liver and muscle phosphorylase kinase deficiency · GSD type 9B

Glycogen storage disease due to liver glycogen phosphorylase deficiency

GSD due to liver glycogen phosphorylase deficiency · Glycogen storage disease type 6

Glycogen storage disease due to liver phosphorylase kinase deficiency

GSD due to liver phosphorylase kinase deficiency · GSD type 9A

Glycogen storage disease due to muscle glycogen phosphorylase deficiency

GSD due to muscle glycogen phosphorylase deficiency · GSD type 5

Glycogen storage disease due to muscle phosphofructokinase deficiency

GSD due to muscle phosphofructokinase deficiency · GSD type 7

Glycogen storage disease due to muscle phosphorylase kinase deficiency

GSD due to muscle phosphorylase kinase deficiency · GSD type 9D