Ethylene glycol poisoning

Not applicable

All ages

Ethylmalonic encephalopathy

Autosomal recessive

Infancy, 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

Extracutaneous mastocytoma

All ages

Extramammary Paget disease

Adult, Elderly

Extraneural perineurioma

Adolescent, Adult, Childhood, Elderly, Infancy

Extranodal nasal NK/T cell lymphoma

Multigenic/multifactorial, Not applicable

Adult

Extraskeletal Ewing sarcoma

Not applicable

Adolescent, Adult, Childhood

Extraskeletal myxoid chondrosarcoma

Not applicable

Adult

Eyelid sebaceous carcinoma

Elderly

F12-associated cold autoinflammatory syndrome

Autosomal dominant

Neonatal

FADD-related immunodeficiency

Autosomal recessive

Infancy, Neonatal

FASTKD2-related infantile mitochondrial encephalomyopathy

Autosomal recessive

Adolescent, Infancy, Neonatal

FG syndrome type 1

X-linked recessive

Antenatal, Neonatal

FGFR2-related bent bone dysplasia

Autosomal dominant

Antenatal, Neonatal

FKRP-related limb-girdle muscular dystrophy R9

Autosomal recessive

Adolescent, Adult, Childhood

FLNC-related handgrip and calf weakness-distal myopathy

Autosomal dominant

Adolescent, Adult

FLOTCH syndrome

Childhood, Infancy

FOXG1 syndrome

Neonatal