Rare Disease Library

EEM syndrome

Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome

EGF-related primary hypomagnesemia with intellectual disability

Ehlers-Danlos syndrome

EDS

Ehlers-Danlos syndrome with periventricular heterotopia

EDS with periventricular heterotopia · Filamin A-related EDS with periventricular nodular heterotopia

Ehlers-Danlos/osteogenesis imperfecta syndrome

EDS/OI syndrome

Ehrlichiosis

Eiken syndrome

Eisenmenger syndrome

Elastoderma

Elastofibroma dorsi

Elastosis perforans serpiginosa

Ellis Van Creveld syndrome

Chondroectodermal dysplasia · Mesodermic dysplasia

Emanuel syndrome

Der(22)t(11;22) syndrome · Supernumerary der(22) syndrome

Embryonal carcinoma

Embryonal carcinoma of the central nervous system

Embryonal carcinoma of the CNS

Embryonal rhabdomyosarcoma

Embryonal tumor of neuroepithelial tissue

Embryonal tumor with multilayered rosettes

ETMR

Emergomycosis

Emergomyces infection

Emery-Dreifuss muscular dystrophy

EDMD

Emery-Nelson syndrome

Hand and foot deformity-flat facies syndrome

EMILIN-1-related connective tissue disease

EN1-related dorsoventral syndrome

ENDOVES · ENDOVE syndrome

Enamel-renal syndrome

Amelogenesis imperfecta-nephrocalcinosis syndrome

Encephalitis

Encephalitis lethargica

Von Economo encephalitis

Encephaloclastic disorder

Encephalocraniocutaneous lipomatosis

Haberland syndrome

Encephalopathy due to mitochondrial and peroxisomal fission defect

Encephalopathy due to prosaposin deficiency

Combined prosaposin deficiency

Encephalopathy due to sulfite oxidase deficiency

Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome

Encircling double aortic arch

Endemic pemphigus foliaceus

Fogo selvagem

Endocardial fibroelastosis

Endomyocardial fibroelastosis

Endocrine-cerebro-osteodysplasia syndrome

ECO syndrome

Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature

Endogenous Cushing syndrome

Endogenous CS

Endometrial stromal sarcoma

Stromal sarcoma of the corpus uteri

Endometrioid carcinoma of ovary

Endophthalmitis

Endosteal hyperostosis, Worth type

Autosomal dominant osteosclerosis, Worth type · Worth syndrome

Endosteal sclerosis-cerebellar hypoplasia syndrome

Energy metabolism disorder with epilepsy

Eng-Strom syndrome

Short stature-locking fingers syndrome

Enlarged parietal foramina

Catlin marks · Fenestrae parietales symmetricae

Enteric anendocrinosis

Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells

Enteropathy-associated T-cell lymphoma

EATL · ETTL