Rare Disease Library

Enthesitis-related juvenile idiopathic arthritis

Enthesitis-related JIA · Juvenile ERA

Eosinophilic angiocentric fibrosis

IgG4-related eosinophilic angiocentric fibrosis

Eosinophilic colitis

Eosinophilic fasciitis

Diffuse fasciitis with eosinophilia · Shulman syndrome

Eosinophilic gastroenteritis

EGE · Eosinophilic enteritis

Eosinophilic granulomatosis with polyangiitis

Churg-Strauss syndrome · EGPA

Ependymal tumor

Ependymoblastoma

Ependymoma

Classic ependymoma

EPHB4-related lymphatic-related hydrops fetalis

EPHB4-related generalized lymphatic dysplasia with atrial septal defect · EPHB4-related LRHF/GLD

Epiblepharon

Epibulbar lipodermoid-preauricular appendage-polythelia syndrome

Epidemic typhus

Epidermal appendage anomaly

Epidermal disease

Epidermal nevus syndrome

Epidermal hamartoma syndrome

Epidermolysis bullosa acquisita

Acquired epidermolysis bullosa

Epidermolysis bullosa simplex

EBS

Epidermolysis bullosa simplex due to BP230 deficiency

DST-related epidermolysis bullosa simplex · EBS due to BP230 deficiency

Epidermolysis bullosa simplex due to exophilin 5 deficiency

EBS due to exophilin 5 deficiency

Epidermolysis bullosa simplex with anodontia/hypodontia

Kallin syndrome · EBS with anodontia/hypodontia

Epidermolysis bullosa simplex with circinate migratory erythema

EBS with circinate migratory erythema · EBS-migr

Epidermolysis bullosa simplex with extracutaneous involvement

EBS with extracutaneous involvement

Epidermolysis bullosa simplex with mottled pigmentation

EBS-MP · EBS with mottled pigmentation

Epidermolysis bullosa simplex with muscular dystrophy

EBS-MD · Limb-girdle muscular dystrophy with epidermolysis bullosa simplex

Epidermolysis bullosa simplex with pyloric atresia

EBS with pyloric atresia · EBS-PA

Epidermolysis bullosa simplex without extracutaneous involvement

EBS without extracutaneous involvement

Epidermolytic nevus

Epidermolytic verrucous epidermal nevus · Epidermolytic epidermal nevus

Epidermolytic palmoplantar keratoderma

Diffuse erythrodermic palmoplantar keratoderma, Voerner type · Diffuse erythrodermic palmoplantar keratoderma, Vörner type

Epignathus

Oropharyngeal teratoma

Epilepsy and/or ataxia with myoclonus as a major feature

Epilepsy of infancy with migrating focal seizures

EIMFS · Malignant migrating partial seizures of infancy

Epilepsy with auditory features

Autosomal dominant epilepsy with auditory features · EAF

Epilepsy with eyelid myoclonia

EMA · EMEA

Epilepsy with generalized tonic-clonic seizures alone

Epilepsy with grand mal seizures on awakening · GTCA

Epilepsy with myoclonic absences

Epilepsy with myoclonic-atonic seizures

Doose syndrome · EMAS

Epilepsy with reading-induced seizures

EwRIS

Epilepsy-microcephaly-skeletal dysplasia syndrome

Battaglia-Neri syndrome

Epilepsy-telangiectasia syndrome

Epileptic encephalopathy with global cerebral demyelination

AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Epiphyseal dysplasia-hearing loss-dysmorphism syndrome

Finucane-Kurtz-Scott syndrome · Epiphyseal dysplasia-deafness-dysmorphism syndrome

Epiphyseal stippling-osteoclastic hyperplasia syndrome

Pacman dysplasia

Epiphysiolysis of the hip

Slipped upper femoral epiphysis · SUFE

Episodic ataxia type 1

Episodic ataxia with myokymia

Episodic ataxia type 3

Episodic ataxia-vertigo-tinnitus-myokymia syndrome

Episodic ataxia type 4

PATX · Periodic vestibulocerebellar ataxia

Episodic ataxia type 5