Essential thrombocythemia

Multigenic/multifactorial, Not applicable

All ages

Esthesioneuroblastoma

Not applicable

Adult, Elderly

Estrogen resistance syndrome

Autosomal recessive

Adolescent

Ethylene glycol poisoning

Not applicable

All ages

Ethylmalonic encephalopathy

Autosomal recessive

Infancy, Neonatal

Euryblepharon

Unknown

Neonatal

Euthyroid Graves orbitopathy

Not applicable

Euthyroid dysprealbuminemic hyperthyroxinemia

Autosomal dominant

Adult

Evans syndrome

Not applicable

Adult, Childhood

Exercise-induced hyperinsulinism

Autosomal dominant

Adolescent, Adult

Exercise-induced malignant hyperthermia

Multigenic/multifactorial

All ages

Exfoliative ichthyosis

Autosomal recessive

Infancy, Neonatal

Exostoses-anetodermia-brachydactyly type E syndrome

Unknown

Neonatal

Exstrophy-epispadias complex

Multigenic/multifactorial

Antenatal, Neonatal

Extensor tendons of finger anomalies

Neonatal

External auditory canal aplasia/hypoplasia

Autosomal dominant

Neonatal

External auditory canal atresia-vertical talus-hypertelorism syndrome

Autosomal dominant, Not applicable, Unknown

Neonatal

Extracranial carotid artery aneurysm

Adult, Elderly

Extracutaneous mastocytoma

All ages

Extragonadal germ cell tumor

Extramammary Paget disease

Adult, Elderly

Extramedullary soft tissue plasmacytoma

Extraneural perineurioma

Adolescent, Adult, Childhood, Elderly, Infancy

Extranodal nasal NK/T cell lymphoma

Multigenic/multifactorial, Not applicable

Adult