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Disease	Synonyms	Description	Articles	Phenotypes
estrogen-receptor positive breast cancer		A breast cancer that is characterized by the prese..[+] A breast cancer that is characterized by the presence of estrogen receptors. [-]
estrogen-receptor negative breast cancer		A breast cancer that is characterized by the absen..[+] A breast cancer that is characterized by the absence of estrogen receptors. [-]
endocrine organ benign neoplasm		An organ system benign neoplasm that is located_in..[+] An organ system benign neoplasm that is located_in endocrine glands which secretes a type of hormone directly into the bloodstream to regulate the body. [-]	3 articles
ectopic pregnancy	eccyesis	A female reproductive system disease characterized..[+] A female reproductive system disease characterized by the implantation of the embryo outside the uterine cavity. [-]
epithelial and subepithelial dystrophy		n_a
epithelial-stromal TGFBI dystrophy		n_a
epithelial basement membrane dystrophy	EBMD; microcystic corneal dystrophy; Cogan corneal.. [+] EBMD; microcystic corneal dystrophy; Cogan corneal dystrophy [-]	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by sheet-like areas of basement membrane originating from the basal epithelial cells of the corneal epithelium and extending superficially into the epithelium. [-]
EAST syndrome	epilepsy, ataxia, sensorineural deafness and tubul.. [+] epilepsy, ataxia, sensorineural deafness and tubulopathy; SeSAME syndrome; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance [-]	A syndrome characterized by seizures, sensorineura..[+] A syndrome characterized by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance and has_material_basis_in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]	4 articles
erythema elevatum diutinum		A vasculitis characterized by red, purple, brown o..[+] A vasculitis characterized by red, purple, brown or yellow papules (raised spot), plaques, or nodules, found on the backs of the hands, other extensor surfaces overlying joints, and on the buttocks. [-]
ethylmalonic encephalopathy		A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhea; it has_material_basis_in homozygous or compound heterozygous mutation in the ETHE1 gene, which encodes a mitochondrial matrix protein, on chromosome 19q13. [-]
endocrine-cerebro-osteodysplasia syndrome	ECO syndrome	A syndrome that is characterized by multiple conge..[+] A syndrome that is characterized by multiple congenital defects in endocrine, cerebral, and skeletal systems leading to neonatal mortality; it has_material_basis_in mutation in the gene encoding intestinal cell kinase. [-]
epidermolysis bullosa simplex Dowling-Meara type	epidermolysis bullosa herpetiformis Dowling-Meara .. [+] epidermolysis bullosa herpetiformis Dowling-Meara type; epidermolysis bullosa simplex, herpetiformis; EBSDM; EBS-gen sev; generalized severe epidermolysis bullosa simplex [-]	An epidermolysis bullosa simplex characterized by ..[+] An epidermolysis bullosa simplex characterized by generalized non-scarring skin blistering that often occurs in clusters, progressive hyperkeratosis of the palms and soles, clumping of keratin filaments in basal epidermal cells and that has_material_basis_in mutation in either the KRT5 or KRT14 genes. This is the most severe of the epidermolysis bullosa simplex types and may result in neonatal or infant lethality in some cases. [-]
epidermolysis bullosa simplex Ogna type	EBSOG; EBS-Og; EBS-O	An epidermolysis bullosa simplex characterized by ..[+] An epidermolysis bullosa simplex characterized by skin blisters originating in the deepest areas of the basal cell cytoplasm just above the hemidesmosomes, skin bruising and that has_material_basis_in heterozygous mutation in the PLEC1 gene on chromosome 8q24. [-]
EEC syndrome	ectrodactyly-ectodermal dysplasia-clefting syndrom.. [+] ectrodactyly-ectodermal dysplasia-clefting syndrome; ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome; Walker-Clodius syndrome; Rudiger syndrome 1 [-]	A syndrome characterized by ectrodactyly, ectoderm..[+] A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). [-]
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	EEC3; EEC syndrome 3	An EEC syndrome characterized by autosomal dominan..[+] An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material_basis_in heterozygous mutation in the TP63 gene on chromosome 3q28. [-]
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1	EEC syndrome 1; EEC1	An EEC syndrome characterized by autosomal dominan..[+] An EEC syndrome characterized by autosomal dominant inheritance that has_material_basis_in variation in the chromosome region 7q11.2-q21.3. [-]
ectopic Cushing syndrome	ectopic ACTH secreting tumor; Cushing syndrome due.. [+] ectopic ACTH secreting tumor; Cushing syndrome due to ectopic ACTH secretion [-]	A primary hyperaldosteronism that is characterized..[+] A primary hyperaldosteronism that is characterized by a tumor outside the pituitary gland produces a hormone called adrenocorticotropic hormone. [-]
early-onset Parkinson's disease	early-onset Parkinson disease	A Parkinson's disease characterized by onset of mo..[+] A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. [-]	1 articles
early-onset Parkinson disease 20		An early-onset Parkinson disease that has_material..[+] An early-onset Parkinson disease that has_material_basis_in homozygous mutation in the SYNJ1 gene on chromosome 21q22. [-]
epithelial recurrent erosion dystrophy	ERED; COL17A1	An epithelial and subepithelial dystrophy that is ..[+] An epithelial and subepithelial dystrophy that is characterized by frequent painful recurrent corneal erosions, small gray anterior stromal flecks associated with larger focal gray-white disc-shaped, circular, or wreath-like lesions with central clarity. [-]
encephalopathy due to defective mitochondrial and peroxisomal fission 1		A syndrome that has_material_basis_in heterozygous..[+] A syndrome that has_material_basis_in heterozygous mutation in the DNM1L gene, and is characterized by delayed psychomotor development and has_symptom hypotonia that may lead to death in childhood. [-]
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	early-onset progressive encephalopathy with brain .. [+] early-onset progressive encephalopathy with brain atrophy and thin corpus callosum; PEBAT [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. [-]
early-onset dystonia and/or spastic paraplegia		A dystonia characterized by variable onset of dyst..[+] A dystonia characterized by variable onset of dystonia, spasticity, or both that has_material_basis_in heterozygous mutation in the ATP5MC3 gene on chromosome 2q31.1. [-]
early-onset epilepsy 2	EPEO2	An epilepsy characterized by neonatal to childhood..[+] An epilepsy characterized by neonatal to childhood onset of generalized tonic-clonic seizures that has_material_basis_in heterozygous mutation in the SETD1A gene on chromosome 16p11.2. [-]
early-onset epilepsy 3	EPEO3	An epilepsy characterized by infantile or childhoo..[+] An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. [-]
early-onset vitamin B6-dependent epilepsy 4	EPEO4; AASA dehydrogenase deficiency; antiquitin d.. [+] EPEO4; AASA dehydrogenase deficiency; antiquitin deficiency; PDE-ALDH7A1 [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. [-]
esophageal atresia/tracheoesophageal fistula	esophageal atresia and/or tracheoesophageal fistul.. [+] esophageal atresia and/or tracheoesophageal fistula; tracheoesophageal fistula with or without esohageal atresia [-]	A gastrointestinal system disease that is characte..[+] A gastrointestinal system disease that is characterized by abnormal development of the esophagus and trachea where the upper esophagus does not connect (atresia) to the lower esophagus and stomach and may also include tracheoesophageal fistula where the esophagus and the trachea are abnormally connected which allows fluids from the esophagus to get into the airways and interfere with breathing. [-]	4 articles	11 matches
epidermolytic palmoplantar keratoderma		A palmoplantar keratosis that is characterized by ..[+] A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. [-]
erythrokeratodermia variabilis et progressiva 5		An erythrokeratodermia variabilis that has_materia..[+] An erythrokeratodermia variabilis that has_material_basis_in homozygous mutation in the KRT83 gene on chromosome 12q13. [-]
exudative vitreoretinopathy 7	EVR7	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the CTNNB1 gene on chromosome 3p22.1. [-]
epithelioid inflammatory myofibroblastic sarcoma		An inflammatory myofibroblastic tumor composed of ..[+] An inflammatory myofibroblastic tumor composed of epithelioid or round cells with a characteristic perinuclear or nuclear membrane staining pattern with ALK immunohistochemistry, frequently dispersed in myxoid stroma with prominent neutrophils or lymphocytes, and often absence of plasma cells. [-]
Elsahy-Waters syndrome	branchioskeletogenital syndrome	A syndrome that is characterized by brachycephaly,..[+] A syndrome that is characterized by brachycephaly, facial asymmetry, marked hypertelorism, proptosis, blepharochalasis, midface hypoplasia, broad nose with concave nasal ridge, and prognathism; radicular dentin dysplasia with consequent obliterated pulp chambers, apical translucent cysts, recurrent infections, and early loss of teeth; vertebral fusions, particularly at C2-C3; and moderate mental retardation. [-]
Ehlers-Danlos syndrome arthrochalasia type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by hypermobility in infants with dislocations of both hips at birth and has_material_basis_in heterozygous mutation in the COL1A1 gene on chromosome 17q21. [-]
Ehlers-Danlos syndrome arthrochalasia type 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the COL1A2 gene on chromosome 7q21. [-]
Ehlers-Danlos syndrome classic-like 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by hyperextensible skin, hypermobile joints, and tissue fragility and that has_material_basis_in omozygous or heterozygous mutation in the tenascin-XB gene (TNXB) on chromosome 6p21. [-]
Ehlers-Danlos syndrome dermatosparaxis type		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by severe skin fragility, sagging, redundant skin and that has_material_basis_in mutation in the gene encoding the procollagen protease ADAMTS2 on chromosome 5q35. [-]
Ehlers-Danlos syndrome kyphoscoliotic type 2		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by severe muscle hypotonia at birth, progressive scoliosis, joint hypermobility, hyperelastic skin, myopathy, sensorineural hearing impairment, and normal pyridinoline excretion in urine and that has_material_basis_in homozygous or compound heterozygous mutation in the FKBP14 gene on chromosome 7p15. [-]
Ehlers-Danlos syndrome musculocontractural type 2		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by progressive multisystem fragility-related manifestations, including joint dislocations and deformities; skin hyperextensibility, bruisability, and fragility, with recurrent large subcutaneous hematomas; cardiac valvular, respiratory, gastrointestinal, and ophthalmologic complications; and myopathy, featuring muscle hypoplasia, muscle weakness, and an abnormal muscle fiber pattern in histology in adulthood, resulting in gross motor developmental delay and that has_material_basis_in homozygous mutation in the DSE gene on chromosome 6q22. [-]
Ehlers-Danlos syndrome spondylodysplastic type 3		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in homozygous mutation in the zinc transporter gene SLC39A13 on chromosome 11p11 and that is characterized by short stature, hyperelastic skin and hypermobile joints, protuberant eyes with bluish sclerae, finely wrinkled palms, and characteristic radiologic features. [-]
erythema nodosum		A panniculitis that is characterized by sudden ons..[+] A panniculitis that is characterized by sudden onset of painful, erythematous, subcutaneous nodules mainly localized to the pretibial areas. Lesions are usually bilateral and symmetrical, ranging from 1 to 5 cm in diameter. [-]
erythrokeratodermia variabilis et progressiva 6		An erythrokeratodermia variabilis that is characte..[+] An erythrokeratodermia variabilis that is characterized by erythematous hyperkeratotic plaques that develop within the first year of life, beginning on distal extremities and progressing to involve the face, wrists, and ankles, with sparing of volar surfaces and that has_material_basis_in heterozygous mutation in the TRPM4 gene on chromosome 19q13. [-]
early-onset vitamin B6-dependent epilepsy 1	early-onset vitamin B6-dependent epilepsy; EPEO1; .. [+] EPEO1; early-onset vitamin B6-dependent epilepsy; PDE-PLPBP [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the PLPBP gene on chromosome 8p11.23. [-]
exercise-induced bronchoconstriction	exercise-induced asthma	An intrinsic asthma that is characterized by narro..[+] An intrinsic asthma that is characterized by narrowing of the airways during or shortly after exercise. [-]
embryonal tumor with multilayered rosettes, C19MC-altered	ependymoblastoma	An embryonal tumor with multilayered rosettes that..[+] An embryonal tumor with multilayered rosettes that is characterized by the presence of multilayered rosettes formation and the presence of amplification of the C19MC region on chromosome 19 (19q13.42). [-]
erythroleukemia		An acute erythroid leukemia characterized by the p..[+] An acute erythroid leukemia characterized by the presence of at least 50% erythroid precursors and at least 20% myeloblasts in the bone marrow. [-]
Ehlers-Danlos syndrome periodontal type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by an Ehlers-Danlos syndrome phenotype combined with severe periodontal inflammation and that has_material_basis_in heterozygous mutation in the C1R gene on chromosome 12p13. [-]
Ehlers-Danlos syndrome periodontal type 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in heterozygous mutation in the C1S gene on chromosome 12p13. [-]
EZB diffuse large B-cell lymphoma	EZB DLBCL	A diffuse large B-cell lymphoma that is categorize..[+] A diffuse large B-cell lymphoma that is categorized as EZB with high probability by the LymphGen algorithm. This is based on a combination of genetic features and EZB DLBCLs often, but do not always, have hot spot mutations in EZH2 and/or a BCL2 translocation. This class can be further subdivided into two sub-classes EZB-MYC+ and EZB-MYC- using the double hit gene expression signature (DHITsig). This subgroup also commonly has mutations due to aberrant somatic hypermutation affecting IRF8, which can be coding or non-coding. [-]
EZB-MYC+ diffuse large B-cell lymphoma	EZB-MYC+ DLBCL	An EZB diffuse large B-cell lymphoma that expresse..[+] An EZB diffuse large B-cell lymphoma that expresses the double hit gene expression signature (DHITsig+) according to gene expression profiling. In addition to the features characteristic of EZB, these cases commonly, but do not always, harbour MYC translocations and DDX3X mutations. [-]
EZB-MYC- diffuse large B-cell lymphoma	EZB-MYC- DLBCL	An EZB diffuse large B-cell lymphoma that does not..[+] An EZB diffuse large B-cell lymphoma that does not express the double hit gene expression signature (DHITsig-) according to gene expression profiling. These cases tend to have few MYC translocations or DDX3X mutations. [-]

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