Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Ehlers-Danlos syndrome musculocontractural type 2 |
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An Ehlers-Danlos syndrome that is characterized by..[+]
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Ehlers-Danlos syndrome spondylodysplastic 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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erythema nodosum |
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A panniculitis that is characterized by sudden ons..[+]
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erythrokeratodermia variabilis et progressiva 6 |
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An erythrokeratodermia variabilis that is characte..[+]
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early-onset vitamin B6-dependent epilepsy 1 |
A pyridoxine-dependent epilepsy that has_material_..[+]
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exercise-induced bronchoconstriction |
exercise-induced asthma
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An intrinsic asthma that is characterized by narro..[+]
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embryonal tumor with multilayered rosettes, C19MC-altered |
ependymoblastoma
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An embryonal tumor with multilayered rosettes that..[+]
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erythroleukemia |
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An acute erythroid leukemia characterized by the p..[+]
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Ehlers-Danlos syndrome periodontal type 1 |
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An Ehlers-Danlos syndrome that is characterized by..[+]
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Ehlers-Danlos syndrome periodontal type 2 |
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An Ehlers-Danlos syndrome that has_material_basis_..[+]
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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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EZB-MYC+ diffuse large B-cell lymphoma |
EZB-MYC+ DLBCL
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An EZB diffuse large B-cell lymphoma that expresse..[+]
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EZB-MYC- diffuse large B-cell lymphoma |
EZB-MYC- DLBCL
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An EZB diffuse large B-cell lymphoma that does not..[+]
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ectodermal dysplasia and immune deficiency |
Ectodermal dysplasia, hypohidrotic, with immune de..
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An ectodermal dysplasia syndrome that is character..[+]
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ectodermal dysplasia and immunodeficiency 1 |
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An ectodermal dysplasia and immunodeficiency that ..[+]
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ectodermal dysplasia and immunodeficiency 2 |
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An ectodermal dysplasia and immunodeficiency that ..[+]
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EWSR1-negative small round cell tumor |
EWSR1-Negative Small Blue Round Cell Tumor
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A small cell sarcoma that is characterized by the ..[+]
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embryonal tumor with multilayered rosettes |
Embryonal tumour with multilayered rosettes
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A central nervous system embryonal tumor that is c..[+]
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essential tremor 6 |
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An essential tremor that is characterized by adult..[+]
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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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epidermolytic hyperkeratosis 2 |
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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 |
Paroxysmal kinesigenic choreoathetosis
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A dystonia characterized by recurrent brief involu..[+]
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episodic kinesigenic dyskinesia 2 |
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A dystonia that is characterized by recurrent brie..[+]
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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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erythrokeratodermia variabilis et progressiva 1 |
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An erythrokeratodermia variabilis that has_materia..[+]
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early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome |
EMARDD; Myopathy, areflexia, respiratory distress,..
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A congenital myopathy characterized by proximal an..[+]
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epidermolysis bullosa simplex with mottled pigmentation |
An epidermolysis bullosa simplex characterized by ..[+]
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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 5 |
EVR5
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An exudative vitreoretinopathy that has_material_b..[+]
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exudative vitreoretinopathy 3 |
EVR3
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An exudative vitreoretinopathy that has_material_b..[+]
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exudative vitreoretinopathy 6 |
EVR6
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An exudative vitreoretinopathy that has_material_b..[+]
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exudative vitreoretinopathy 4 |
EVR4
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An exudative vitreoretinopathy that has_material_b..[+]
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exudative vitreoretinopathy 1 |
EVR1
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An exudative vitreoretinopathy that has_material_b..[+]
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essential tremor 1 |
ETM1; hereditary essential tremor 1
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An essential tremor that has_material_basis_in het..[+]
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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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essential tremor 3 |
ETM3; hereditary essential tremor 3
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An essential tremor that has_material_basis_in var..[+]
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essential tremor 4 |
ETM4; hereditary essential tremor 4
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An essential tremor that has_material_basis_in het..[+]
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essential tremor 5 |
ETM5; hereditary essential tremor 5
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An essential tremor that has_material_basis_in het..[+]
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ectopia lentis with ectopia of pupil |
ectopia lentis et pupillae
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An eye disease characterized by displacement of th..[+]
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ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome |
An ectodermal dysplasia characterized by ectoderma..[+]
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ectodermal dysplasia 13 |
ectodermal dysplasia 13, hair/tooth type; ECTD13
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An ectodermal dysplasia characterized by severe ol..[+]
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ectodermal dysplasia 15 |
An ectodermal dysplasia characterized by onset in ..[+]
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ectodermal dysplasia 12 |
ectodermal dysplasia 12, hypohidrotic/hair/tooth/n..
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A hypohidrotic ectodermal dysplasia that has_mater..[+]
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ectodermal dysplasia 11A |
ectodermal dysplasia 11A, hypohidrotic/hair/tooth ..
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A hypohidrotic ectodermal dysplasia that has_mater..[+]
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ectodermal dysplasia 11B |
ectodermal dysplasia 11B, hypohidrotic/hair/tooth ..
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A hypohidrotic ectodermal dysplasia that has_mater..[+]
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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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