Rare Disease Library

Episodic ataxia type 6

Episodic ataxia type 7

Episodic ataxia with slurred speech

Episodic ataxia type 8

Episodic memory defect leukoencephalopathy

White matter hyperintensities-episodic memory defect leukoencephalopathy · Hippocampal memory defect leukoencephalopathy

Epithelial basement membrane dystrophy

Anterior basement membrane dystrophy · Cogan microcystic epithelial dystrophy

Epithelial recurrent erosion dystrophy

Dystrophia Smolandiensis · ERED

Epithelial tumor of anal canal

Epithelial tumor of the appendix

Appendiceal epithelial tumor

Epithelioid hemangioendothelioma

EHE

Epithelioid hemangioma

EH · Angiolymphoid hyperplasia with eosinophilia

Epithelioid sarcoma

Epithelioid trophoblastic tumor

Epstein syndrome

Alport syndrome with macrothrombocytopenia

Epstein-Barr Virus-associated carcinoma

EBV-associated carcinoma

Epstein-Barr virus-associated gastric carcinoma

EBV-associated gastric carcinoma · EBVaGC

Epstein-Barr virus-associated malignant lymphoproliferative disorder

EBV-associated lymphoproliferative disorder

Epstein-Barr Virus-associated mesenchymal tumor

EBV-associated mesenchymal tumor

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

Diffuse large B-cell lymphoma · DLBCL

Epstein-Barr Virus-related tumor

EBV-related tumor

Erdheim-Chester disease

Ermine phenotype

O'Doherty syndrome · Pigmentary disorder with hearing loss

Erosive pustular dermatosis of the scalp

Erythema elevatum diutinum

Erythema multiforme major

Erythema multiforme majus · Erythema exsudativum multiforme majus

Erythema palmare hereditarium

Lane disease · Red palms disease

Erythrocyte galactose epimerase deficiency

Erythrocyte GALE deficiency · Erythrocyte GALE-D

Erythroderma desquamativum

Leiner disease

Erythrokeratoderma

Erythrokeratoderma ''en cocardes''

Degos genodermatosis "en cocardes"

Erythrokeratoderma variabilis progressiva

Erythrokeratodermia variabilis

EKV · Erythrokeratodermia variabilis, Mendes da Costa type

Erythrokeratodermia-cardiomyopathy syndrome

EKC syndrome

Erythropoietic porphyria

EPP

Erythropoietic uroporphyria associated with myeloid malignancy

Esophageal atresia

CEA · Congenital esophageal atresia

Esophageal malformation

Malformation of the esophagus

Essential fructosuria

Fructokinase deficiency · Ketohexokinase deficiency

Essential iris atrophy

Essential thrombocythemia

ET · Essential thrombocytosis

Esthesioneuroblastoma

Olfactory neuroblastoma

Estrogen resistance syndrome

Ethylene glycol poisoning

Ethylmalonic encephalopathy

Euryblepharon

Euthyroid dysprealbuminemic hyperthyroxinemia

Euthyroid dystransthyretinemic hyperthyroxinemia

Euthyroid Graves orbitopathy

Euthyroid Graves ophthalmopathy

Evans syndrome

Autoimmune hemolytic anemia and autoimmune thrombocytopenia · Immune pancytopenia

EVEN-plus syndrome

Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome