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Disease	Synonyms	Description
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. [-]
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 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. [-]
erythrokeratodermia variabilis et progressiva 1		An erythrokeratodermia variabilis that has_materia..[+] An erythrokeratodermia variabilis that has_material_basis_in heterozygous, homozygous, or compound heterozygous mutation in GJB3 on 1p34.3. [-]
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 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. [-]
essential tremor 3	ETM3; hereditary essential tremor 3	An essential tremor that has_material_basis_in var..[+] An essential tremor that has_material_basis_in variation in a region on chromosome 6p23. [-]
essential tremor 4	ETM4; hereditary essential tremor 4	An essential tremor that has_material_basis_in het..[+] An essential tremor that has_material_basis_in heterozygous mutation in FUS on chromosome 16p11.2. [-]
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. [-]

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