Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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epithelial and subepithelial dystrophy |
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n_a
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epithelial-stromal TGFBI dystrophy |
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n_a
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epithelial basement membrane dystrophy |
EBMD; Cogan corneal dystrophy; microcystic corneal..
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n_a
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EAST syndrome |
epilepsy, ataxia, sensorineural deafness and tubul..
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A syndrome characterize by seizures, sensorineural..[+]
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erythema elevatum diutinum |
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A vasculitis characterised by red, purple, brown o..[+]
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ethylmalonic encephalopathy |
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A mitochondrial metabolism disease that is charact..[+]
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endocrine-cerebro-osteodysplasia syndrome |
ECO syndrome
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A syndrome that is characterized by multiple conge..[+]
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epidermolysis bullosa simplex Dowling-Meara type |
An epidermolysis bullosa simplex characterized by ..[+]
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epidermolysis bullosa simplex Ogna type |
EBSOG; EBS-Og; EBS-O
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An epidermolysis bullosa simplex characterized by ..[+]
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EEC syndrome |
ectrodactyly-ectodermal dysplasia-clefting syndrom..
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An autosomal dominant disease characterized by ect..[+]
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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 |
EEC3; EEC syndrome 3
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An EEC syndrome characterized by autosomal dominan..[+]
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ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 |
EEC1; EEC syndrome 1
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An EEC syndrome characterized by autosomal dominan..[+]
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early infantile epileptic encephalopathy 9 |
An infantile epileptic encephalopathy that has_mat..[+]
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ectopic Cushing syndrome |
ectopic ACTH secreting tumor; Cushing syndrome due..
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A primary hyperaldosteronism that is characterized..[+]
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early-onset Parkinson's disease |
early-onset Parkinson disease
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A Parkinson's disease characterized by onset of mo..[+]
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early-onset Parkinson disease 20 |
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An early-onset Parkinson disease that has_material..[+]
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epithelial recurrent erosion dystrophy |
ERED; COL17A1
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An epithelial and subepithelial dystrophy that is ..[+]
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encephalopathy due to defective mitochondrial and peroxisomal fission 1 |
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A syndrome that has_material_basis_in heterozygous..[+]
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early-onset dystonia and/or spastic paraplegia |
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A dystonia characterized by variable onset of dyst..[+]
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early-onset epilepsy 2 |
EPEO2
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An epilepsy characterized by neonatal to childhood..[+]
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esophageal atresia/tracheoesophageal fistula |
esophageal atresia and/or tracheoesophageal fistul..
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A gastrointestinal system disease that is characte..[+]
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erythrokeratodermia variabilis et progressiva 3 |
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An erythrokeratodermia variabilis that is characte..[+]
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Ehlers-Danlos syndrome arthrochalasia type 1 |
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An Ehlers-Danlos syndrome that is characterized by..[+]
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Ehlers-Danlos syndrome classic-like 2 |
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An Ehlers-Danlos syndrome that has_material_basis_..[+]
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Ehlers-Danlos syndrome musculocontractural type 1 |
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An Ehlers-Danlos syndrome that is characterized by..[+]
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Ehlers-Danlos syndrome spondylodysplastic type 3 |
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An Ehlers-Danlos syndrome that has_material_basis_..[+]
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extrinsic asthma |
atopic asthma
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A chronic asthma that is triggered by an allergen ..[+]
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EZB diffuse large B-cell lymphoma |
EZB DLBCL
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A diffuse large B-cell lymphoma that is categorize..[+]
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ectodermal dysplasia and immunodeficiency 2 |
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An ectodermal dysplasia and immunodeficiency that ..[+]
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extraventricular neurocytoma |
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A cerebral ventricle cancer that is characterized ..[+]
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epidermolytic hyperkeratosis 1 |
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An epidermolytic hyperkeratosis that is characteri..[+]
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epidermolysis bullosa simplex with muscular dystrophy |
epidermolysis bullosa simplex and limb-girdle musc..
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An syndrome characterized by early childhood onset..[+]
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episodic kinesigenic dyskinesia 1 |
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A dystonia characterized by autosomal dominant inh..[+]
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episodic kinesigenic dyskinesia 2 |
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A dystonia characterized by autosomal dominant inh..[+]
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enhanced S-cone syndrome |
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A retinal disease that is characterized by early o..[+]
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epidermal nevus |
nonepidermolytic keratinocytic nevus
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A skin disease characterized by localized epiderma..[+]
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epidermolysis bullosa with congenital localized absence of skin and deformity of nails |
An autosomal dominant dystrophic epidermolysis bul..[+]
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exudative vitreoretinopathy 3 |
EVR3
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An exudative vitreoretinopathy that has_material_b..[+]
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essential tremor 2 |
ETM2; hereditary essential tremor 2
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An essential tremor that has_material_basis_in het..[+]
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ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
An ectodermal dysplasia characterized by ectoderma..[+]
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ectodermal dysplasia 9 |
ectodermal dysplasia 9, hair/nail type; ECTD9
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A pure hair and nail ectodermal dysplasia that has..[+]
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ectodermal dysplasia 5 |
ectodermal dysplasia 5, hair/nail type; ECTD5
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A pure hair and nail ectodermal dysplasia that has..[+]
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ectodermal dysplasia 8 |
An ectodermal dysplasia characterized by hypotrich..[+]
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ectodermal dysplasia 10A |
ectodermal dysplasia 10A, hypohidrotic/hair/nail t..
[+]
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A hypohidrotic ectodermal dysplasia that has_mater..[+]
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squamous cell papilloma |
Epidermoid papilloma; squamous cell papilloma (mor..
[+]
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n_a
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carcinoma |
epithelioma; malignant Epithelioma
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A cell type cancer that has_material_basis_in abno..[+]
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accessory nerve disease |
Eleventh nerve disorder; disorder of 11th nerve; d..
[+]
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n_a
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cervix endometriosis |
Endometriosis of cervix; cervical Endometriosis
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n_a
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olfactory neuroblastoma |
Esthesioneuroepithelioma [dup] (morphologic abnorm..
[+]
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n_a
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Loeffler endocarditis |
Eosinophilic Endomyocardial disease
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A restrictive cardiomyopathy that affects the endo..[+]
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