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Disease	Synonyms	Description
epithelial and subepithelial dystrophy		n_a
epithelial-stromal TGFBI dystrophy		n_a
epithelial basement membrane dystrophy	EBMD; Cogan corneal dystrophy; microcystic corneal.. [+] EBMD; Cogan corneal dystrophy; microcystic corneal dystrophy [-]	n_a
EAST syndrome	epilepsy, ataxia, sensorineural deafness and tubul.. [+] epilepsy, ataxia, sensorineural deafness and tubulopathy; seizures, sensorineural deafness, ataxia, mental retardation and electrolyte imbalance; SeSAME syndrome [-]	A syndrome characterize by seizures, sensorineural..[+] A syndrome characterize by seizures, sensorineural deafness, ataxia, mental retardation, and electrolyte imbalance. It has material basis in homozygous or compound heterozygous mutation in the KCNJ10 gene on chromosome 1q23. [-]
erythema elevatum diutinum		A vasculitis characterised by red, purple, brown o..[+] A vasculitis characterised 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 (ICK). [-]
epidermolysis bullosa simplex Dowling-Meara type	epidermolysis bullosa simplex, herpetiformis; epid.. [+] epidermolysis bullosa simplex, herpetiformis; epidermolysis bullosa herpetiformis Dowling-Meara type; 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; Rudiger syndrome 1; Walker-Clodius syndrome [-]	An autosomal dominant disease characterized by ect..[+] An autosomal dominant disease 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	EEC1; EEC syndrome 1	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. [-]
early infantile epileptic encephalopathy 9	EFMR; EIEE9; early infantile female-limited epilec.. [+] EIEE9; EFMR; early infantile female-limited epilecptic encephalopathy; female restricted epilepsy with mental retardation; Juberg Hellman syndrome [-]	An infantile epileptic encephalopathy that has_mat..[+] An infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22. [-]
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 early than typically seen, usually prior to 50 years of age. [-]
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 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. [-]
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. [-]
erythrokeratodermia variabilis et progressiva 3		An erythrokeratodermia variabilis that is characte..[+] An erythrokeratodermia variabilis that is characterized by normal skin at birth but develop hyperpigmentation and scaling at sites of friction in childhood, with progression to near-confluent corrugated hyperkeratosis, palmoplantar keratoderma, and transient figurate erythema and that has_material_basis_in heterozygous mutation in the gene encoding connexin-43 (GJA1) on chromosome 6q22. [-]
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 classic-like 2		An Ehlers-Danlos syndrome that has_material_basis_..[+] An Ehlers-Danlos syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the AEBP1 gene on chromosome 7p13 and that is characterized by severe joint and skin laxity, osteoporosis involving the hips and spine, osteoarthritis, soft redundant skin that can be acrogeria-like, delayed wound healing with abnormal atrophic scarring, and shoulder, hip, knee, and ankle dislocations. [-]
Ehlers-Danlos syndrome musculocontractural type 1		An Ehlers-Danlos syndrome that is characterized by..[+] An Ehlers-Danlos syndrome that is characterized by distinctive craniofacial dysmorphism, congenital contractures of thumbs and fingers, clubfeet, severe kyphoscoliosis, muscular hypotonia, hyperextensible thin skin with easy bruisability and atrophic scarring, wrinkled palms, joint hypermobility, and ocular involvement and that has_material_basis_in homozygous or compound heterozygous mutation in the CHST14 gene on chromosome 15q14. [-]
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. [-]
extrinsic asthma	atopic asthma	A chronic asthma that is triggered by an allergen ..[+] A chronic asthma that is triggered by an allergen and that is characterized by an immune system overreaction to a harmless substance, such as pollen or dust, with the subsequent release of immunoglobin E (IgE) antibodies. [-]
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. [-]
ectodermal dysplasia and immunodeficiency 2		An ectodermal dysplasia and immunodeficiency that ..[+] An ectodermal dysplasia and immunodeficiency that is characterized by variable features of ectodermal dysplasia (e.g., hypo/anhidrosis, sparse hair, tooth anomalies) and various immunologic and infectious phenotypes of differing severity and that has_material_basis_in heterozygous mutation in the NFKBIA gene on chromosome 14q13. [-]
extraventricular neurocytoma		A cerebral ventricle cancer that is characterized ..[+] A cerebral ventricle cancer that is characterized by the presence of neoplastic uniform, round cells with neuronal differentiation, that arises from the brain parenchyma. Unlike central neurocytoma, it does not involve the lateral ventricles. [-]
epidermolytic hyperkeratosis 1		An epidermolytic hyperkeratosis that is characteri..[+] An epidermolytic hyperkeratosis that is characterized in adulthood by warty flexural hyperkeratosis with fewer erosions and blisters and that usually presents at birth with erythema and blistering and that has_material_basis_in heterozygous mutation in the keratin-1 gene (KRT1) on chromosome 12q13. [-]
epidermolysis bullosa simplex with muscular dystrophy	epidermolysis bullosa simplex and limb-girdle musc.. [+] epidermolysis bullosa simplex and limb-girdle muscular dystrophy; limb-girdle muscular dystrophy with epidermolysis bullosa simplex [-]	An syndrome characterized by early childhood onset..[+] An syndrome characterized by early childhood onset of progressive muscular dystrophy and blistering skin changes and that has_material_basis_in homozygous or compound heterozygous mutation in the PLEC gene on chromosome 8q24. [-]
episodic kinesigenic dyskinesia 1		A dystonia characterized by autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in heterozygous mutation in the PRRT2 gene on chromosome 16p11. [-]
episodic kinesigenic dyskinesia 2		A dystonia characterized by autosomal dominant inh..[+] A dystonia characterized by autosomal dominant inheritance of recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in variation in the chromosome region 16q13-q22.1. [-]
enhanced S-cone syndrome		A retinal disease that is characterized by early o..[+] A retinal disease that is characterized by early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear receptor subfamily 2 group E member 3 gene (NR2E3) on chromosome 15q23. [-]
epidermal nevus	nonepidermolytic keratinocytic nevus	A skin disease characterized by localized epiderma..[+] A skin disease characterized by localized epidermal thickening with hyperpigmentation that develops at or shortly after birth. [-]
epidermolysis bullosa with congenital localized absence of skin and deformity of nails	epidermolysis bullosa dystrophica, Bart type; EBD,.. [+] epidermolysis bullosa dystrophica, Bart type; EBD, Bart type [-]	An autosomal dominant dystrophic epidermolysis bul..[+] An autosomal dominant dystrophic epidermolysis bullosa characterized by severe blistering of skin and mucous membranes, congenital absence of skin on the lower extremities and congenital absence or deformity of nails that has_material_basis_in heterozygous mutation in the COL7A1 gene on chromosome 3p21.31. [-]
exudative vitreoretinopathy 3	EVR3	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in a region on chromosome 11p13-p12. [-]
essential tremor 2	ETM2; hereditary essential tremor 2	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in a region on chromosome 2p25-p22. [-]
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	EEM syndrome; EEMS; ectodermal dysplasia-ectrodact.. [+] EEMS; EEM syndrome; ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome [-]	An ectodermal dysplasia characterized by ectoderma..[+] An ectodermal dysplasia characterized by ectodermal dysplasia, ectrodactyly, and macular dystrophy that has_material_basis_in homozygous or compound heterozygous mutation in the CDH3 gene on chromosome 16q22.1. [-]
ectodermal dysplasia 9	ectodermal dysplasia 9, hair/nail type; ECTD9	A pure hair and nail ectodermal dysplasia that has..[+] A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the HOXC13 gene on chromosome 12q13.13. [-]
ectodermal dysplasia 5	ectodermal dysplasia 5, hair/nail type; ECTD5	A pure hair and nail ectodermal dysplasia that has..[+] A pure hair and nail ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 10q24.32-q25.1. [-]
ectodermal dysplasia 8	ectodermal dysplasia 8, hair/tooth/nail type; ECTD.. [+] ectodermal dysplasia 8, hair/tooth/nail type; ECTD8; Fried's tooth and nail syndrome [-]	An ectodermal dysplasia characterized by hypotrich..[+] An ectodermal dysplasia characterized by hypotrichosis, hypodontia, and dystrophic toenails that has_material_basis_in homozygous or compound heterozygous mutation in a region on chromosome 18q22.1-q22.3. [-]
ectodermal dysplasia 10A	ectodermal dysplasia 10A, hypohidrotic/hair/nail t.. [+] ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; ECTD10A [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDAR gene on chromosome 2q13. [-]
squamous cell papilloma	Epidermoid papilloma; squamous cell papilloma (mor.. [+] Epidermoid papilloma; squamous cell papilloma (morphologic abnormality) [-]	n_a
carcinoma	epithelioma; malignant Epithelioma	A cell type cancer that has_material_basis_in abno..[+] A cell type cancer that has_material_basis_in abnormally proliferating cells derives_from epithelial cells. [-]
accessory nerve disease	Eleventh nerve disorder; disorder of 11th nerve; d.. [+] Eleventh nerve disorder; disorder of 11th nerve; disorder of accessory [11th] nerve; disorder of accessory nerve (disorder) [-]	n_a
cervix endometriosis	Endometriosis of cervix; cervical Endometriosis	n_a
olfactory neuroblastoma	Esthesioneuroepithelioma [dup] (morphologic abnorm.. [+] Esthesioneuroepithelioma [dup] (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Esthesioneuroblastoma (morphologic abnormality); Asthesioneuroblastoma (morphologic abnormality); Olfactory Esthesioneuroblastoma; paranasal sinus Olfactory neuroblastoma [-]	n_a
Loeffler endocarditis	Eosinophilic Endomyocardial disease	A restrictive cardiomyopathy that affects the endo..[+] A restrictive cardiomyopathy that affects the endocardium and occurs with white blood cell proliferation, specifically of eosinophils. [-]

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