Search for a rare disease
549 Result(s)
- E3-deficient maple syrup urine disease
- 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 anterior polar cataract
- Early-onset anterior subcapsular cataract
- Early-onset ataxia with dementia
- Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome
- Early-onset autosomal dominant Alzheimer disease
- Early-onset benign childhood occipital epilepsy
- Early-onset calcifying leukoencephalopathy-skeletal dysplasia
- Early-onset cataract with Y-shaped suture opacities
- Early-onset cerebellar ataxia with retained tendon reflexes
- Early-onset citrullinemia type 1
- Early-onset citrullinemia type I
- Early-onset desmin-related myopathy
- Early-onset diabetes mellitus with multiple epiphyseal dysplasia
- Early-onset dystonia parkinsonism
- Early-onset epilepsy-intellectual disability-brain anomalies syndrome
- Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
- Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Early-onset familial autosomal dominant Alzheimer disease
- Early onset familial encephalopathy with neuroserpin inclusion bodies
- Early-onset familial hyperreninemic hypoaldosteronism
- Early-onset familial hypoaldosteronism
- Early-onset generalized limb-onset dystonia
- Early-onset generalized torsion dystonia
- Early-onset hypertension with exacerbation in pregnancy
- Early-onset isolated dystonia
- Early-onset Lafora body disease
- Early-onset lamellar cataract
- Early-onset multiple carboxylase deficiency
- Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
- Early-onset myopathy with fatal cardiomyopathy
- Early-onset non-syndromic cataract
- Early-onset nuclear cataract
- Early-onset obesity-hyperphagia-severe developmental delay syndrome
- Early-onset Parkinson disease
- Early-onset parkinsonism-intellectual disability syndrome
- Early-onset partial cataract
- Early-onset posterior polar cataract
- Early-onset posterior subcapsular cataract
- Early-onset primary dystonia
- Early-onset prion disease with prominent psychiatric features
- Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
- Early-onset progressive encephalopathy-brain atrophy-spasticity syndrome
- Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
- Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
- Early-onset progressive encephalopathy with migrant continuous myoclonus
- Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
- Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
- Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
- Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
- Early-onset severe retinal dystrophy
- Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
- Early-onset sutural cataract
- Early-onset torsion dystonia
- Early-onset vitelliform macular dystrophy
- Early-onset X-linked optic atrophy
- Early-onset zonular cataract
- Ear-patella-short stature syndrome
- Eastern equine encephalitis
- Eastern equine encephalomyelitis
- Eastman-Bixler syndrome
- EAST syndrome
- East Texas bleeding disorder
- EA/TEF
- Eating epilepsy
- Eating reflex epilepsy
- Eating seizures
- EATL
- E-beta-thalassemia
- EBMD
- Ebola fever
- Ebola hemorrhagic fever
- Ebola virus disease
- EBS
- EBS due to BP230 deficiency
- EBS due to exophilin 5 deficiency
- EBS-loc
- EBS-MD
- EBS-migr
- EBS-MP
- EBS-PA
- Ebstein anomaly of the tricuspid valve
- Ebstein malformation of the tricuspid valve
- EBS with anodontia/hypodontia
- EBS with circinate migratory erythema
- EBS with extracutaneous involvement
- EBS with mottled pigmentation
- EBS with muscular dystrophy
- EBS with nephropathy
- EBS without extracutaneous involvement
- EBS with pyloric atresia
- EBVaGC
- EBV-associated carcinoma
- EBV-associated gastric carcinoma
- EBV-associated lymphoproliferative disorder
- EBV-associated mesenchymal tumor
- EBV-positive DLBCL of the elderly
- EBV-related tumor
- ECAA
- ECCA
- Eccrine tumors-ectodermal dysplasia
- Echinococcus multilocularis infection
- ECHS1D
- ECO syndrome
- Ectasia of the left atrial appendage
- Ectasia of the left auricle
- Ectasia of the right atrial appendage
- Ectasia of the right atrial auricle
- Ectasic coloboma
- Ectodermal dysplasia
- Ectodermal dysplasia-acanthosis nigricans syndrome
- Ectodermal dysplasia, Berlin type
- Ectodermal dysplasia-blindness syndrome
- Ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome
- Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
- Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
- Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
- Ectodermal dysplasia-sensorineural deafness syndrome
- Ectodermal dysplasia-sensorineural hearing loss syndrome
- Ectodermal dysplasia-short stature syndrome
- Ectodermal dysplasia-skin fragility syndrome
- Ectodermal dysplasia syndrome
- Ectodermal dysplasia, trichoodontoonychial type
- Ectodermal dysplasia with natal teeth, Turnpenny type
- Ectopia cordis
- Ectopia lentis-chorioretinal dystrophy-myopia syndrome
- Ectopia lentis syndrome
- Ectopic ACTH secreting tumor
- Ectopic aldosterone-producing tumor
- Ectopic Cushing syndrome
- Ectopic neurohypophysis
- Ectrodactyly
- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome
- Ectrodactyly-ectodermal dysplasia-cleft lip/palate syndrome and related disorders
- Ectrodactyly-polydactyly syndrome
- Ectrodactyly with and without other manifestations
- Ectropion inferior-cleft lip and/or palate syndrome
- Eczema-thrombocytopenia-immunodeficiency syndrome
- EDA-ID
- EDICT syndrome
- Edinburgh malformation syndrome
- EDM
- EDM1
- EDM4
- EDM5
- EDM7
- EDMD
- EDMD2
- EDMD3
- EDS
- EDS-HT
- EDS III
- EDS IV
- EDS/myopathy overlap syndrome
- EDS/OI syndrome
- EDS progeroid type 1
- Edström Myopathy
- EDS V
- EDS VI
- EDS VIA
- EDS VII
- EDS VIII
- EDS with short stature and limb anomalies
- Edwards-Patton-Dilly syndrome
- Edwards syndrome
- EEC
- EEC syndrome
- EEC syndrome and related disorders
- EEC syndrome and related syndrome
- EEM syndrome
- Effort subclavian vein thrombosis
- EFMR
- EGE
- EGF-related primary hypomagnesemia with intellectual disability
- EGID
- EGPA
- EHEC-HUS
- EHF
- EHK
- Ehlers-Danlos/osteogenesis imperfecta syndrome
- Ehlers-Danlos syndrome
- Ehlers-Danlos syndrome, arthrochalasia type
- Ehlers-Danlos syndrome due to tenascin-X deficiency
- Ehlers-Danlos syndrome hypermobility type
- Ehlers-Danlos syndrome, Kosho type
- Ehlers-Danlos syndrome, periodontitis type
- Ehlers-Danlos syndrome progeroid 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 7C
- Ehlers-Danlos syndrome type 8
- Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and deafness
- Ehlers-Danlos syndrome with kyphoscoliosis, myopathy, and hearing loss
- Ehrlichiosis
- Ehrmann-Sneddon syndrome
- EI
- EIEE
- EIHI
- Eiken syndrome
- Eisenmenger syndrome
- EKC syndrome
- EKV
- Elastoderma
- Elastofibroma dorsi
- Elastoma
- Elastosis perforans serpiginosa
- Elastotic striae
- Elejalde disease
- Elejalde syndrome
- Ellis Van Creveld syndrome
- Ellis-Yale-Winter syndrome
- ELOVL4-related neuro ichthyosis
- Elsahy-Waters syndrome
- Elschnig syndrome
- Emanuel syndrome
- EMARDD
- EMAS
- Emberger syndrome
- Embryonal carcinoma
- Embryonal carcinoma of the central nervous system
- Embryonal carcinoma of the CNS
- Embryonal rhabdomyosarcoma
- Embryonal sarcoma of the liver
- Embryonal tumor of neuroepithelial tissue
- Embryonic testicular regression syndrome
- EMEA
- Emery-Dreifuss muscular dystrophy
- Emery-Nelson syndrome
- EMILIN-1-related connective tissue disease
- EN1-related dorsoventral syndrome
- Enamel-renal syndrome
- Encephalitis
- Encephalitis lethargica
- Encephaloclastic disorder
- Encephaloclastic proliferative vasculopathy
- Encephalocraniocutaneous lipomatosis
- Encephalofacial angiomatosis
- Encephalopathy due to GLUT1 deficiency
- Encephalopathy due to mitochondrial and peroxisomal fission defect
- Encephalopathy due to prosaposin deficiency
- Encephalopathy due to sulfite oxidase deficiency
- Encephalopathy due to urocanase deficiency
- Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
- Encephalopathy-intracerebral calcification-retinal degeneration syndrome
- Encephalopathy with basal ganglia calcification
- Encephalopathy with intracranial calcification and chronic lymphocytosis of cerebrospinal fluid
- Encephalotrigeminal angiomatosis
- Encircling double aortic arch
- Endemic pemphigus foliaceus
- Endemic typhus
- Endocardial fibroelastosis
- Endocrine active pituitary adenoma
- Endocrine-cerebro-osteodysplasia syndrome
- Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
- Endodermal sinus tumor
- Endodermal sinus tumor of central nervous system
- Endodermal sinus tumor of CNS
- Endoepithelial corneal dystrophy
- Endogenous CS
- Endogenous Cushing syndrome
- Endometrial serous carcinoma
- Endometrial squamous cell carcinoma
- Endometrial stromal sarcoma
- Endometrial transitional cell carcinoma
- Endometrial undifferentiated carcinoma
- Endometrioid carcinoma of ovary
- Endometriosis outside pelvis
- Endomyocardial fibroelastosis
- Endophthalmitis
- Endophthalmitis phacoanaphylactica
- Endosteal hyperostosis, Worth type
- Endosteal sclerosis-cerebellar hypoplasia syndrome
- Endothelial dystrophy-iris hypoplasia-congenital cataract-stromal thinning syndrome
- ENDOVES
- ENDOVE syndrome
- Energy metabolism disorder with epilepsy
- Eng-Strom syndrome
- Enhanced S-cone syndrome
- Enlarged parietal foramina
- Enteric anendocrinosis
- Enteric duplication cyst of the tongue
- Enteropathy-associated T-cell lymphoma
- Enteropathy-associated T-cell lymphoma type 1
- Enteropathy-associated T-cell lymphoma type 2
- Enteropathy-type T-cell lymphoma
- Enthesitis-related JIA
- Enthesitis-related juvenile idiopathic arthritis
- EOCA
- EOCARR
- EOE
- EOFAD
- EOMFC
- EOPPC
- Eosinophilic angiocentric fibrosis
- Eosinophilic cellulitis
- Eosinophilic colitis
- Eosinophilic endocarditis
- Eosinophilic enteritis
- Eosinophilic fasciitis
- Eosinophilic gastroenteritis
- Eosinophilic gastroenterocolitis
- Eosinophilic granulomatosis with polyangiitis
- Eosinophilic lymphogranuloma
- EOSRD
- EOTD
- Ependymal tumor
- Ependymoblastoma
- Ependymoma
- EPHB4-related generalized lymphatic dysplasia with atrial septal defect
- EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis
- EPHB4-related LRHF/GLD
- EPHB4-related lymphatic-related hydrops fetalis
- Epiblepharon
- Epibronchial right pulmonary vein syndrome
- Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
- Epidemic typhus
- Epidermal appendage anomaly
- Epidermal disease
- Epidermal hamartoma syndrome
- Epidermal necrolysis
- Epidermal nevus syndrome
- Epidermal nevus with epidermolytic hyperkeratosis
- Epidermodysplasia verruciformis
- Epidermolysis bullosa acquisita
- Epidermolysis bullosa atrophicans
- Epidermolysis bullosa dystrophica
- Epidermolysis bullosa hereditaria
- Epidermolysis bullosa letalis
- Epidermolysis bullosa progressiva
- Epidermolysis bullosa simplex
- Epidermolysis bullosa simplex, Dowling-Meara type
- Epidermolysis bullosa simplex due to BP230 deficiency
- Epidermolysis bullosa simplex due to exophilin 5 deficiency
- Epidermolysis bullosa simplex herpetiformis
- Epidermolysis bullosa simplex, Köbner type
- Epidermolysis bullosa simplex, Koebner type
- Epidermolysis bullosa simplex of palms and soles
- Epidermolysis bullosa simplex, Weber-Cockayne type
- Epidermolysis bullosa simplex with anodontia/hypodontia
- Epidermolysis bullosa simplex with circinate migratory erythema
- Epidermolysis bullosa simplex with extracutaneous involvement
- Epidermolysis bullosa simplex with mottled pigmentation
- Epidermolysis bullosa simplex with muscular dystrophy
- Epidermolysis bullosa simplex with nephropathy
- Epidermolysis bullosa simplex without extracutaneous involvement
- Epidermolysis bullosa simplex with pyloric atresia
- Epidermolytic epidermal nevus
- Epidermolytic hyperkeratosis
- Epidermolytic nevus
- Epidermolytic palmoplantar keratoderma
- Epidermolytic palmoplantar keratoderma of Voerner
- Epidermolytic palmoplantar keratoderma of Vörner
- Epidermolytic verrucous epidermal nevus
- Epignathus
- Epilepsy and/or ataxia with myoclonus as a major feature
- Epilepsy-ataxia-sensorineural deafness-tubulopathy syndrome
- Epilepsy-ataxia-sensorineural hearing loss-tubulopathy syndrome
- Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
- Epilepsy-dementia-amelogenesis imperfecta syndrome
- Epilepsy due to FCD
- Epilepsy-microcephaly-skeletal dysplasia syndrome
- Epilepsy of infancy with migrating focal seizures
- Epilepsy syndrome
- Epilepsy-telangiectasia syndrome
- Epilepsy with myoclonic absences
- Epilepsy with myoclonic-astatic seizures
- Epilepsy with myoclonic-atonic seizures
- Epileptic encephalopathy with continuous spike-and-wave during slow sleep
- Epileptic encephalopathy with global cerebral demyelination
- Epimerase deficiency galactosemia
- Epiphyseal dysplasia-deafness-dysmorphism syndrome
- Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
- Epiphyseal dysplasia-microcephaly-nystagmus syndrome
- Epiphyseal stippling-osteoclastic hyperplasia syndrome
- Epiphysial-vertebral-ear dysplasia-nose-plus associated findings syndrome
- Epiphysiolysis of the hip
- Epiphysiolysis of the upper femur
- 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 type 8
- Episodic ataxia-vertigo-tinnitus-myokymia syndrome
- Episodic ataxia with myokymia
- Episodic ataxia with slurred speech
- Episodic choreoathetosis/spasticity
- Episodic spontaneous hypothermia
- Epithelial basement membrane dystrophy
- Epithelial cancer of ovary
- Epithelial recurrent erosion dystrophy
- Epithelial tumor of anal canal
- Epithelial tumor of the appendix
- Epithelioid hemangioendothelioma
- Epithelioid sarcoma
- Epithelioid trophoblastic tumor
- Epithelioma calcificans of Malherbe
- EPM1
- EPM2
- EPM3
- EPM4
- EPM5
- EPM6
- EPM7
- EPM8
- EPM9
- EPP
- EPPK
- Epstein-Barr Virus-associated carcinoma
- Epstein-Barr virus-associated gastric carcinoma
- Epstein-Barr virus-associated malignant lymphoproliferative disorder
- Epstein-Barr Virus-associated mesenchymal tumor
- Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly
- Epstein-Barr Virus-related tumor
- Erdheim-Chester disease
- ERED
- Ermine phenotype
- Eroded polypoid hyperplasia
- Erosive pustular dermatosis of the scalp
- Erythema elevatum diutinum
- Erythema exsudativum multiforme majus
- Erythema multiforme major
- Erythema multiforme majus
- Erythema palmare hereditarium
- Erythrocyte epimerase deficiency galactosemia
- Erythrocyte galactose epimerase deficiency
- Erythrocyte GALE-D
- Erythrocyte GALE deficiency
- Erythrocyte lactate transporter defect
- Erythrocyte UDP-galactose-4-epimerase deficiency
- Erythrocyte uridine diphosphate galactose-4-epimerase deficiency
- Erythroderma desquamativum
- Erythrodermic ichthyosis
- Erythroedema polyneuritis
- Erythrokeratoderma
- Erythrokeratoderma ''en cocardes''
- Erythrokeratoderma variabilis progressiva
- Erythrokeratodermia-cardiomyopathy syndrome
- Erythrokeratodermia progressiva symmetrica
- Erythrokeratodermia variabilis
- Erythrokeratodermia variabilis, Mendes da Costa type
- Erythrokeratodermia with ataxia
- Erythrokeratolysis hiemalis
- Erythroleukemia
- Erythropoietic uroporphyria associated with myeloid malignancy
- ESCC
- Escher-Hirt syndrome
- Escobar syndrome
- Escobar variant multiple pterygium syndrome
- Esophageal adenocarcinoma
- Esophageal atresia
- Esophageal atresia with or without trachea-esophageal fistula
- Esophageal carcinoma
- Esophageal carcinoma, salivary gland type
- Esophageal duplication cyst
- Esophageal epidermoid carcinoma
- Esophageal malformation
- Esophageal NEN
- Esophageal neuroendocrine neoplasm
- Esophageal squamous cell carcinoma
- Essential cryoglobulinemia
- Essential fructosuria
- Essential iris atrophy
- Essential mixed cryoglobulinemia
- Essential pentosuria
- Essential thrombocythemia
- Essential thrombocytosis
- Esthesioneuroblastoma
- Estrogen resistance syndrome
- ET
- Ethylene glycol poisoning
- Ethylmalonic encephalopathy
- ETRS
- ETTL
- Euhidrotic ectodermal dysplasia
- Euryblepharon
- Euthyroid dysprealbuminemic hyperthyroxinemia
- Euthyroid dystransthyretinemic hyperthyroxinemia
- Euthyroid Graves ophthalmopathy
- Euthyroid Graves orbitopathy
- Evans syndrome
- Evans syndrome associated with primary immunodeficiency
- EVEN-plus syndrome
- EVMPS
- EVN
- Excess breast volume or number
- Excretory apparatus of the lacrimal system anomaly
- Exercise-induced delayed-onset myotonia
- Exercise-induced hyperinsulinemic hypoglycemia
- Exercise-induced hyperinsulinism
- Exercise-induced malignant hyperthermia
- Exercise intolerance with lactic acidosis
- Exertional heat stroke
- Exfoliative ichthyosis
- Exomphalos-macroglossia-gigantism syndrome
- Exostoses-anetodermia-brachydactyly type E syndrome
- Exposure-related interstitial lung disease
- Exstrophy-epispadias complex
- Extensive peripapillary myelinated nerve fibers
- Extensor tendons of finger anomalies
- External auditory canal aplasia/hypoplasia
- External auditory canal atresia-vertical talus-hypertelorism syndrome
- External auditory canal stenosis/atresia
- EXTL3-related neuro-immuno-skeletal dysplasia syndrome
- Extra-adrenal aldosterone-producing tumor
- Extracranial carotid artery aneurysm
- Extracutaneous mastocytoma
- Extragonadal germ cell tumor
- Extragonadal germinoma
- Extragonadal non-dysgerminomatous germ cell tumor
- Extragonadal teratoma
- Extralobar congenital bronchopulmonary sequestration
- Extralobar congenital pulmonary sequestration
- Extramammary Paget disease
- Extramedullary conus spinal cord lipoma
- Extramedullary myeloid tumor
- Extramedullary soft tissue plasmacytoma
- Extraneural perineurioma
- Extranodal marginal zone B-cell lymphoma
- Extranodal nasal NK/T cell lymphoma
- Extraosseous Ewing sarcoma
- Extraosseous Ewing tumor
- Extra-ovarian primary peritoneal carcinoma
- Extrapelvic endometriosis
- Extraskeletal Ewing sarcoma
- Extraskeletal Ewing tumor
- Extraskeletal myxoid chondrosarcoma
- Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
- Extraventricular neurocytoma
- Extrinsic allergic alveolitis
- Extrinsic biliary compression syndrome
- Eyebrow duplication-syndactyly syndrome
- Eyelid border anomaly
- Eyelid myoclonia with and without absences
- Eyelids malposition disorder
