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Disease	Synonyms	Description	Articles	Phenotypes
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. [-]
ectodermal dysplasia and immune deficiency	Ectodermal dysplasia, hypohidrotic, with immune de.. [+] Ectodermal dysplasia, hypohidrotic, with immune deficiency; Anhidrotic ectodermal dysplasia with immune deficiency [-]	An ectodermal dysplasia syndrome that is character..[+] An ectodermal dysplasia syndrome that is characterized by signs of ectodermal dysplasia (sparse hair, abnormal or missing teeth, decrease or absent sudation), typical facial features (protruding forehead, wrinkles under the eyes, characteristic periorbital hyperpigmentation), and immunodeficiency. [-]
ectodermal dysplasia and immunodeficiency 1		An ectodermal dysplasia and immunodeficiency that ..[+] An ectodermal dysplasia and immunodeficiency that is characterized by onset of recurrent severe infections due to immunodeficiency in early infancy or in the first years of life and that has_material_basis_in hemizygous mutation in the IKK-gamma gene (IKBKG) on chromosome Xq28. [-]
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. [-]
EWSR1-negative small round cell tumor	EWSR1-Negative Small Blue Round Cell Tumor	A small cell sarcoma that is characterized by the ..[+] A small cell sarcoma that is characterized by the absence of EWSR1 rearrangement and the presence of small round malignant cells with a small amount of cytoplasm. [-]
embryonal tumor with multilayered rosettes	Embryonal tumour with multilayered rosettes	A central nervous system embryonal tumor that is c..[+] A central nervous system embryonal tumor that is characterized by the presence of multilayered rosette formation and typically the presence of amplification of the C19MC region on chromosome 19 (19q13.42) or rarely a DICER1 mutation. [-]
essential tremor 6		An essential tremor that is characterized by adult..[+] An essential tremor that is characterized by adult-onset kinetic and/or postural tremor usually affecting the upper limbs and that has_material_basis_in heterozygous trinucleotide GGC repeat expansion in the 5-prime untranslated region of the NOTCH2NLC gene on chromosome 1q21. [-]
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. [-]
epidermolytic hyperkeratosis 2		An epidermolytic hyperkeratosis that is characteri..[+] An epidermolytic hyperkeratosis that is characterized by generalized erythema, erosions, scaling, and easily breaking blisters that become less frequent later in life, while hyperkeratosis increases and that has_material_basis_in heterozygous or homozygous mutation in the keratin-10 gene (KRT10) on chromosome 17q21. [-]
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	Paroxysmal kinesigenic choreoathetosis	A dystonia characterized by recurrent brief involu..[+] A dystonia characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of heterozygous mutation in the proline-rich transmembrane protein 2 gene (PRRT2) on chromosome 16p11. [-]
episodic kinesigenic dyskinesia 2		A dystonia that is characterized by recurrent brie..[+] A dystonia that is characterized by recurrent brief involuntary hyperkinesias triggered by sudden movements that has_material_basis_in autosomal dominant inheritance of variation in the chromosome region 16q13-q22.1. [-]
enhanced S-cone syndrome		A retinal disease characterized by autosomal reces..[+] A retinal disease characterized by autosomal recessive inheritance of early onset night blindness, hypersensitivity to blue light, and in some cases a more general retinal degeneration that has_material_basis_in homozygous or compound heterozygous mutation in the NR2E3 gene 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. [-]
early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	EMARDD; Myopathy, areflexia, respiratory distress,.. [+] EMARDD; Myopathy, areflexia, respiratory distress, and dysphagia, early-onset; congenital myopathy 10A [-]	A congenital myopathy characterized by proximal an..[+] A congenital myopathy characterized by proximal and generalized muscle weakness, respiratory difficulties, joint contractures, and scoliosis that has_material_basis_in homozygous or compound heterozygous mutation in MEGF10 on chromosome 5q23.2. [-]
epidermolysis bullosa simplex with mottled pigmentation	EBSMP; Epidermolysis bullosa simplex-MP; speckled .. [+] Epidermolysis bullosa simplex-MP; EBSMP; speckled hyperpigmentation with punctate palmoplantar keratoses and childhood blistering [-]	An epidermolysis bullosa simplex characterized by ..[+] An epidermolysis bullosa simplex characterized by generalized blistering with mottled hyper- and hypopigmentation of the skin that has_material_basis_in heterozygous mutation in KRT5 on chromosome 12q13.13. [-]
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 5	EVR5	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the TSPAN12 gene on chromosome 7q31.31. [-]
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. [-]
exudative vitreoretinopathy 6	EVR6	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the ZNF408 gene on chromosome 11p11.2. [-]
exudative vitreoretinopathy 4	EVR4	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in homozygous, compound heterozygous, or heterozygous mutation in the LRP5 gene on chromosome 11q13.2. [-]
exudative vitreoretinopathy 1	EVR1	An exudative vitreoretinopathy that has_material_b..[+] An exudative vitreoretinopathy that has_material_basis_in heterozygous mutation in the FZD4 gene on chromosome 11q14.2. [-]
essential tremor 1	ETM1; hereditary essential tremor 1	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in the DRD3 gene on chromosome 3q13.31. [-]
essential tremor 5	ETM5; hereditary essential tremor 5	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in the TENM4 gene on chromosome 11q14.1. [-]
ectopia lentis with ectopia of pupil	ectopia lentis et pupillae	An eye disease characterized by displacement of th..[+] An eye disease characterized by displacement of the lenses and the pupils in association with other ocular anomalies that has_material_basis_in homozygous or compound heterozygous mutation mutation in the ADAMTSL4 gene on chromosome 1q21.2. [-]
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 13	ectodermal dysplasia 13, hair/tooth type; ECTD13	An ectodermal dysplasia characterized by severe ol..[+] An ectodermal dysplasia characterized by severe oligodontia accompanied by anomalies of hair and skin that has_material_basis_in homozygous or compound heterozygous mutation in the KREMEN1 gene on chromosome 22q12.1. [-]
ectodermal dysplasia 15	ectodermal dysplasia 15, hypohidrotic/hair type; E.. [+] ectodermal dysplasia 15, hypohidrotic/hair type; ECTD15 [-]	An ectodermal dysplasia characterized by onset in ..[+] An ectodermal dysplasia characterized by onset in early childhood of hypotrichosis and absence of sweating except with extreme exercise that has_material_basis_in homozygous or compound heterozygous mutation in the CST6 gene on chromosome 11q13.1. [-]
ectodermal dysplasia 12	ectodermal dysplasia 12, hypohidrotic/hair/tooth/n.. [+] ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12 [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the KDF1 gene on chromosome 1p36.11. [-]
ectodermal dysplasia 11A	ectodermal dysplasia 11A, hypohidrotic/hair/tooth .. [+] ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; ECTD11A [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. [-]
ectodermal dysplasia 11B	ectodermal dysplasia 11B, hypohidrotic/hair/tooth .. [+] ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive; ECTD11B [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDARADD gene on chromosome 1q42-q43. [-]
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 4	ectodermal dysplasia 4, hair/nail type; ECTD4	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 KRT85 gene on chromosome 12q13.13. [-]
ectodermal dysplasia 6	ectodermal dysplasia 6, hair/nail type; ECTD6	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 17p12-q21.2. [-]
ectodermal dysplasia 7	ectodermal dysplasia 7, hair/nail type; ECTD7	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 KRT74 gene on chromosome 12q13.13. [-]
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 14	ectodermal dysplasia 14, hair/tooth type with or w.. [+] ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; ECTN14 [-]	An ectodermal dysplasia characterized by scalp hyp..[+] An ectodermal dysplasia characterized by scalp hypotrichosis and hypodontia that has_material_basis_in homozygous or compound heterozygous mutation in the TSPEAR gene on chromosome 21q22.3. [-]
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. [-]
ectodermal dysplasia 1	ectodermal dysplasia 1, hypohidrotic/hair/tooth ty.. [+] ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked; ectodermal dysplasia 1, hypohidrotic, X-linked; ED1; ectodermal dysplasia 1, anhidrotic; CST syndrome; HED1; hypohidrotic ectodermal dysplasia, X-Linked; X-linked anhidrotic ectodermal dysplasia; XHED; XLHED; Christ-Siemens-Touraine syndrome [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in X-linked recessive mutation in EDA on chromosome Xq13.1. [-]
ectodermal dysplasia 10B	ectodermal dysplasia 10B, hypohidrotic/hair/nail t.. [+] ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive; ECTD10B [-]	A hypohidrotic ectodermal dysplasia that has_mater..[+] A hypohidrotic ectodermal dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the EDAR gene on chromosome 2q13. [-]
enterokinase deficiency	congenital enterokinase deficiency; deficiency of .. [+] congenital enterokinase deficiency; deficiency of enteropeptidase; congenital enteropathy due to enteropeptidase deficiency [-]	An intestinal disease characterized by early-onset..[+] An intestinal disease characterized by early-onset failure to thrive, edema, hypoproteinemia, diarrhea and fat malabsorption that has_material_basis_in homozygous or compound heterozygous mutation in the TMPRSS15 gene on chromosome 21q21.1. [-]
essential fructosuria	fructokinase deficiency; hepatic fructokinase defi.. [+] fructokinase deficiency; hepatic fructokinase deficiency; ketohexokinase deficiency [-]	A carbohydrate metabolic disorder characterized by..[+] A carbohydrate metabolic disorder characterized by elevated fructose levels in the blood and urine following ingestion of fructose and related sugars that has_material_basis_in homozygous or compound heterozygous mutation in KHK on chromosome 2p23.3. [-]
Eiken syndrome	Eiken skeletal dysplasia; bone modeling defect of .. [+] Eiken skeletal dysplasia; bone modeling defect of hands and feet [-]	A bone development disease characterized by severe..[+] A bone development disease characterized by severely delayed ossification primarily of the epiphyses, pelvis, hands, and feet and abnormal bone modeling of the hands and feet that has_material_basis_in homozygous or compound heterozygous mutation in the PTHR1 gene on chromosome 3p21.31. [-]
squamous cell papilloma	Epidermoid papilloma; squamous cell papilloma (mor.. [+] Epidermoid papilloma; squamous cell papilloma (morphologic abnormality) [-]	n_a
carcinoma	epithelioma; epithelial cancer; malignant Epitheli.. [+] epithelial cancer; 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. [-]	11 articles	20 matches
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); disorder of accessory nerve [-]	A glossopharyngeal nerve disease that is character..[+] A glossopharyngeal nerve disease that is characterized by involvement of the accessory nerve (eleventh cranial nerve). [-]
cervix endometriosis	Endometriosis of cervix; cervical Endometriosis	A cervix disease that is characterized by the grow..[+] A cervix disease that is characterized by the growth endometrial tissue that is located on the cervix. [-]
olfactory neuroblastoma	Esthesioneuroepithelioma; Esthesioneuroblastoma; E.. [+] Esthesioneuroblastoma; Esthesioneuroepithelioma; Esthesioneuroblastoma (morphologic abnormality); Esthesioneuroepithelioma [dup] (morphologic abnormality); Esthesioneuroepithelioma (morphologic abnormality); Asthesioneuroblastoma (morphologic abnormality); Olfactory Esthesioneuroblastoma; paranasal sinus Olfactory neuroblastoma; Asthesioneuroblastoma [-]	n_a

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