Rare Diseases under letter "E"

E3-binding protein deficiency [↗]
Eagle-Barret syndrome [↗]
Eales disease [↗]
Early infantile epileptic encephalopathy [↗]
Early infantile epileptic encephalopathy with suppression-bursts [↗]
Early myoclonic encephalopathy [↗]
Early myoclonic encephalopathy with suppression-bursts [↗]
Early-onset autosomal dominant Alzheimer disease [↗]
Early onset benign childhood occipital epilepsy [↗]
Early onset cerebellar ataxia with retained tendon reflex [↗]
Early-onset desmin-related myopathy [↗]
Early-onset diabetes mellitus with multiple epiphyseal dysplasia [↗]
Early-onset familial autosomal dominant Alzheimer disease [↗]
Early-onset generalized torsion dystonia [↗]
Early-onset hypertension with exacerbation in pregnancy [↗]
Early-onset multiple carboxylase deficiency [↗]
Early-onset Parkinson disease [↗]
Early-onset parkinsonism - intellectual deficit [↗]
Early-onset primary dystonia [↗]
Early onset prion disease with prominent psychiatric features [↗]
Early-onset sarcoidosis [↗]
Early onset torsion dystonia [↗]
Early-onset X-linked optic atrophy [↗]
Ear-patella-short stature syndrome [↗]
Eastern equine encephalitis [↗]
Eastern equine encephalomyelitis [↗]
Eastman-Bixler syndrome [↗]
EBD [↗]
E-beta-thalassemia [↗]
EBJ [↗]
Ebola virus disease [↗]
EBS [↗]
EBS-MD [↗]
Ebstein anomaly of the tricuspid valve [↗]
Ebstein malformation [↗]
ECO syndrome [↗]
ECP syndrome [↗]
Ectasia of the left appendage [↗]
Ectasia of the left auricle [↗]
Ectasia of the right atrial appendage [↗]
Ectasia of the right atrial auricle [↗]
Ectasic coloboma [↗]
Ectodermal dysplasia - absent dermatoglyphs [↗]
Ectodermal dysplasia - acanthosis nigricans [↗]
Ectodermal dysplasia - arthrogryposis - diabetes mellitus [↗]
Ectodermal dysplasia, Berlin type [↗]
Ectodermal dysplasia - blindness [↗]
Ectodermal dysplasia - cataracts - kyphoscoliosis [↗]
Ectodermal dysplasia - cutaneous syndactyly syndrome [↗]
Ectodermal dysplasia - ectrodactyly - macular dystrophy [↗]
Ectodermal dysplasia - intellectual deficit - central nervous system malformation [↗]
Ectodermal dysplasia - osteosclerosis [↗]
Ectodermal dysplasia, pure hair-nail type [↗]
Ectodermal dysplasia, Rapp-Hodgkin type [↗]
Ectodermal dysplasia - sensorineural deafness [↗]
Ectodermal dysplasia - skin fragility syndrome [↗]
Ectodermal dysplasia - syndactyly syndrome [↗]
Ectodermal dysplasia syndrome, Rapp-Hodgkin type [↗]
Ectodermal dysplasia, tricho-odonto-onychial type [↗]
Ectodermal dysplasia with natal teeth, Turnpenny type [↗]
Ectopia lentis - chorioretinal dystrophy - myopia [↗]
Ectopic ACTH secreting tumor [↗]
Ectopic Cushing syndrome [↗]
Ectopic neurohypophysis [↗]
Ectrodactyly [↗]
Ectrodactyly - cleft palate [↗]
Ectrodactyly - ectodermal dysplasia - cleft lip/palate [↗]
Ectrodactyly - ectodermal dysplasia without clefting [↗]
Ectrodactyly - polydactyly [↗]
Ectrodactyly - spina bifida - cardiopathy [↗]
Ectropion inferior - cleft lip and or palate [↗]
Eczema-thrombocytopenia-immunodeficiency syndrome [↗]
EDA-ID [↗]
EDCS [↗]
Edinburgh malformation syndrome [↗]
EDM1 [↗]
EDM4 [↗]
EDM5 [↗]
EDMD [↗]
EDMD1 [↗]
EDMD3 [↗]
EDS, cardiac valvular type [↗]
EDS, classic-like type [↗]
EDS, classic type [↗]
EDS I [↗]
EDS II [↗]
EDS III [↗]
EDS IV [↗]
EDS IX [↗]
EDS/OI syndrome [↗]
EDS, progeroid type [↗]
EDSS [↗]
EDSS1 [↗]
EDSS2 [↗]
EDS, spondylocheiro dysplastic type [↗]
Edström Myopathy [↗]
EDS type 4 [↗]
EDS V [↗]
EDS, vascular-like type [↗]
EDS VI [↗]
EDS VIA [↗]
EDS VIB [↗]
EDS VII [↗]
EDS VIIA [↗]
EDS VIIB [↗]
EDS VIIC [↗]
EDS VIII [↗]
EDS with periventricular heterotopia [↗]
EDS X [↗]
EDS XI [↗]
Edwards-Patton-Dilly syndrome [↗]
Edwards syndrome [↗]
Edwards syndrome [↗]
EEC [↗]
EEC syndrome [↗]
EEC syndrome without cleft lip/palate [↗]
EEM syndrome [↗]
EFMR [↗]
EGE [↗]
EHK [↗]
Ehlers-Danlos/osteogenesis imperfecta syndrome [↗]
Ehlers-Danlos syndrome, arthrochalasic type [↗]
Ehlers-Danlos syndrome, cardiac valvular type [↗]
Ehlers-Danlos syndrome, classic-like type [↗]
Ehlers-Danlos syndrome, classic type [↗]
Ehlers-Danlos syndrome, dermatosparaxis type [↗]
Ehlers-Danlos syndrome, fibronectin-deficient [↗]
Ehlers-Danlos syndrome, hypermobile type [↗]
Ehlers-Danlos syndrome, kyphoscoliotic type [↗]
Ehlers-Danlos syndrome, periodontitis type [↗]
Ehlers-Danlos syndrome, progeroid type [↗]
Ehlers-Danlos syndrome, spondylocheiro dysplastic type [↗]
Ehlers-Danlos syndrome type 1 [↗]
Ehlers-Danlos syndrome type 10 [↗]
Ehlers-Danlos syndrome type 11 [↗]
Ehlers-Danlos syndrome type 2 [↗]
Ehlers-Danlos syndrome type 3 [↗]
Ehlers-Danlos syndrome type 4 [↗]
Ehlers-Danlos syndrome type 5 [↗]
Ehlers-Danlos syndrome type 6 [↗]
Ehlers-Danlos syndrome type 6A [↗]
Ehlers-Danlos syndrome type 6B [↗]
Ehlers-Danlos syndrome type 7 [↗]
Ehlers-Danlos syndrome type 7A [↗]
Ehlers-Danlos syndrome type 7B [↗]
Ehlers-Danlos syndrome type 7C [↗]
Ehlers-Danlos syndrome type 8 [↗]
Ehlers-Danlos syndrome, type 9 [↗]
Ehlers-Danlos syndrome type IV [↗]
Ehlers-Danlos syndrome type IX [↗]
Ehlers-Danlos syndrome, vascular-like type [↗]
Ehlers-Danlos syndrome, vascular type [↗]
Ehlers-Danlos syndrome with periventricular heterotopia [↗]
Ehlers-Danlos syndrome with platelet dysfunction from fibronectin abnormality [↗]
Ehrlichiosis [↗]
EI [↗]
EIEE [↗]
EIHI [↗]
Eiken syndrome [↗]
Eisenmenger syndrome [↗]
EKV3 [↗]
Elastoderma [↗]
Elastofibroma dorsi [↗]
Elastoma [↗]
Elastosis perforans serpiginosa [↗]
Elastotic striae [↗]
Electron transfer flavoprotein deficiency [↗]
Electron transfer flavoprotein ubiquinone oxidoreductase deficiency [↗]
Elejalde disease [↗]
Elejalde syndrome [↗]
Ellis Van Creveld syndrome [↗]
Ellis-Yale-Winter syndrome [↗]
Elsching syndrome [↗]
Emanuel syndrome [↗]
Embryofetopathy due to oral anticoagulant therapy [↗]
Embryonal carcinoma [↗]
Embryonal rhabdomyosarcoma [↗]
Embryonal sarcoma of the liver [↗]
Embryonary disorganization syndrome [↗]
EMEA [↗]
Emerinopathy [↗]
Emery-Dreifuss muscular dystrophy [↗]
Emery-Nelson syndrome [↗]
Encephalitis lethargica [↗]
Encephaloclastic proliferative vasculopathy [↗]
Encephalocraniocutaneous lipomatosis [↗]
Encephalopathy due to beta-mercaptolactate-cysteine disulfiduria [↗]
Encephalopathy due to GLUT1 deficiency [↗]
Encephalopathy due to hydroxykynureninuria [↗]
Encephalopathy due to prosaposin deficiency [↗]
Encephalopathy due to sulfite oxidase deficiency [↗]
Encephalopathy due to urocanase deficiency [↗]
Encephalopathy - intracerebral calcification - retinal degeneration [↗]
Encephalopathy with basal ganglia calcification [↗]
Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid [↗]
Encephalophathy recurrent of childhood [↗]
Enchondromatosis [↗]
Encircling double aortic arch [↗]
Endocrine-cerebro-osteodysplasia syndrome [↗]
Endodermal sinus tumor [↗]
Endodermal sinus tumor of the central nervous system [↗]
Endometrial adenoid cystic carcinoma [↗]
Endometrial capillary carcinoma [↗]
Endometrial squamous cell carcinoma [↗]
Endometrial stromal sarcoma [↗]
Endometrial transitional cell carcinoma [↗]
Endometrial undifferentiated carcinoma [↗]
Endomyocardial fibroelastosis [↗]
Endophthalmitis [↗]
Endosteal hyperostosis, Worth type [↗]
Endosteal sclerosis - cerebellar hypoplasia [↗]
Endotheliitis [↗]
Engelhard-Yatziv syndrome [↗]
Eng-Strom syndrome [↗]
Enhanced S-cone syndrome [↗]
Enlarged parietal foramina [↗]
Enolase deficiency [↗]
Enteric anendocrinosis [↗]
Enteric duplication cyst of the tongue [↗]
Enteropathy-type T-cell lymphoma [↗]
Enterovirus antenatal infection [↗]
Enthesitis-related arthritis [↗]
Envenomization by bothrops lanceolatus [↗]
Envenomization by the Martinique lancehead viper [↗]
EOCARR [↗]
EOFAD [↗]
EOPPC [↗]
Eosinophilic cellulitis [↗]
Eosinophilic endocarditis [↗]
Eosinophilic esophagitis [↗]
Eosinophilic fasciitis [↗]
Eosinophilic gastroenteritis [↗]
Eosinophilic granuloma [↗]
Eosinophilic lymphogranuloma [↗]
EOTD [↗]
Ependymoblastoma [↗]
Ependymoma [↗]
Epibronchial right pulmonary artery syndrome [↗]
Epibulbar lipodermoid - preauricular appendage - polythelia [↗]
Epidemic typhus [↗]
Epidermal hamartoma syndrome [↗]
Epidermal nevus syndrome [↗]
Epidermal nevus - vitamin D resistant rickets [↗]
Epidermodysplasia verruciformis [↗]
Epidermolysis bullosa atrophicans [↗]
Epidermolysis bullosa dystrophica [↗]
Epidermolysis bullosa simplex [↗]
Epidermolysis bullosa simplex, Dowling-Meara type [↗]
Epidermolysis bullosa simplex due to plakophilin deficiency [↗]
Epidermolysis bullosa simplex, generalized non-Dowling-Meara [↗]
Epidermolysis bullosa simplex, herpetiformis [↗]
Epidermolysis bullosa simplex, Köbner type [↗]
Epidermolysis bullosa simplex, Koebner type [↗]
Epidermolysis bullosa simplex - limb girdle muscular dystrophy [↗]
Epidermolysis bullosa simplex, localized [↗]
Epidermolysis bullosa simplex of palms and soles [↗]
Epidermolysis bullosa simplex, Ogna type [↗]
Epidermolysis bullosa simplex - pyloric atresia [↗]
Epidermolysis bullosa simplex superficialis [↗]
Epidermolysis bullosa simplex, Weber-Cockayne type [↗]
Epidermolysis bullosa simplex with anodontia/hypodontia [↗]
Epidermolysis bullosa simplex with migratory circinate erythema [↗]
Epidermolysis bullosa simplex with mottled pigmentation [↗]
Epidermolytic epidermolysis bullosa [↗]
Epidermolytic hyperkeratosis [↗]
Epidermolytic ichthyosis [↗]
Epidermolytic palmoplantar keratoderma, Voerner type [↗]
Epignathus [↗]
Epilepsy - dementia - amelogenesis imperfecta [↗]
Epilepsy due to FCD [↗]
Epilepsy - microcephaly - skeletal dysplasia [↗]
Epilepsy telangiectasia [↗]
Epilepsy with myoclonic absences [↗]
Epilepsy with myoclonic-astatic seizures [↗]
Epimetaphyseal skeletal dysplasia [↗]
Epiphyseal dysplasia - hearing loss - dysmorphism [↗]
Epiphyseal dysplasia - microcephaly - nystagmus [↗]
Epiphyseal stippling syndrome - osteoclastic hyperplasia [↗]
Episkopi blindness [↗]
Episodic ataxia type 1 [↗]
Episodic ataxia type 2 [↗]
Episodic ataxia type 3 [↗]
Episodic ataxia type 4 [↗]
Episodic ataxia type 5 [↗]
Episodic ataxia type 6 [↗]
Episodic ataxia type 7 [↗]
Episodic ataxia with myokymia [↗]
Episodic choreoathetosis/spasticity [↗]
Epispadias [↗]
Epithelio-exfoliative colitis - deafness [↗]
Epithelioid hemangioendothelioma [↗]
Epithelioid trophoblastic tumor [↗]
Epithelioma calcificans of Malherbe [↗]
Epstein syndrome [↗]
ERA [↗]
Erdheim-Chester disease [↗]
Erdheim disease [↗]
Ermine phenotype [↗]
Eroded polypoid hyperplasia [↗]
Eronen-Somer-Gustafsson syndrome [↗]
Erosive pustular dermatosis of the scalp [↗]
Eruptive collagenoma [↗]
Erythema elevatum diutinum [↗]
Erythema palmaris hereditarium [↗]
Erythremia [↗]
Erythrocyte lactate transporter defect [↗]
Erythroderma desquamativa [↗]
Erythroedema polyneuritis [↗]
Erythrokeratoderma "en cocardes" [↗]
Erythrokeratodermia - ataxia [↗]
Erythrokeratodermia variabilis 3 [↗]
Erythrokeratodermia variabilis, Kamouraska type [↗]
Erythrokeratodermia variabilis, Mendes da Costa type [↗]
Erythromelalgia [↗]
Erythropoietic protoporphyria [↗]
Erythropoietic uroporphyria secondary to myeloid malignancy [↗]
Escher-Hirt syndrome [↗]
Escobar syndrome [↗]
Esophageal adenocarcinoma [↗]
Esophageal atresia [↗]
Esophageal carcinoma [↗]
Esophageal duplication cyst [↗]
Esophageal squamous cell carcinoma [↗]
ESS1 [↗]
Essential cryoglobulinemia [↗]
Essential iris atrophy [↗]
Essential osteolysis [↗]
Essential pentosuria [↗]
Essential thrombocythemia [↗]
Essential thrombocytosis [↗]
Esthesioneuroblastoma [↗]
Estrogen resistance syndrome [↗]
ET [↗]
ETFA deficiency [↗]
ETFB deficiency [↗]
ETFDH deficiency [↗]
Ethylene glycol poisoning [↗]
Ethylmalonic aciduria [↗]
Ethylmalonic encephalopathy [↗]
Euhidrotic ectodermal dysplasia [↗]
Evans syndrome [↗]
Ewing sarcoma [↗]
Excessive growth - learning disabilities - facial dysmorphism [↗]
Exercise-induced delayed-onset myotonia [↗]
Exercise-induced hyperinsulinemic hypoglycemia [↗]
Exercise-induced hyperinsulinism [↗]
Exner syndrome [↗]
Exomphalos - macroglossia - gigantism [↗]
Exostoses - anetodermia - brachydactyly type E [↗]
Exstrophy-epispadias complex [↗]
Extensor tendons of finger anomalies [↗]
External auditory canal aplasia/hypoplasia [↗]
External auditory canal stenosis/atresia [↗]
Extracutaneous mastocytoma [↗]
Extralobar congenital bronchopulmonary sequestration [↗]
Extralobar congenital pulmonary sequestration [↗]
Extramammary Paget disease [↗]
Extramedullary myeloid tumor [↗]
Extramedullary soft tissue plasmacytoma [↗]
Extraneural perineurioma [↗]
Extranodal nasal NK/T cell lymphoma [↗]
Extra-ovarian primary peritoneal carcinoma [↗]
Extraskeletal myxoid chondrosarcoma [↗]
Extrasystoles - short stature - hyperpigmentation - microcephaly [↗]
Extraventricular neurocytoma [↗]
Extrinsic allergic alveolitis [↗]
Eyebrow duplication - syndactyly [↗]
Eyebrows and eyelashes absence - intellectual deficit [↗]
Eye defects - arachnodactyly - cardiopathy [↗]
Eyelid myoclonia with and without absences [↗]