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Disease	Synonyms	Description	Articles	Phenotypes
echolalia		A speech disorder that involves the automatic repe..[+] A speech disorder that involves the automatic repetition of vocalizations made by another person. [-]
eclampsia	Eclampsia in puerperium (disorder); Postpartum ecl.. [+] Eclampsia in puerperium (disorder); Postpartum eclampsia; Eclampsia, postpartum; Eclampsia in puerperium; [-]	A pre-eclampsia characterized by the presence of s..[+] A pre-eclampsia characterized by the presence of seizures. [-]
ecthyma		n_a
ectodermal dysplasia	Congenital ectodermal defect; Ectodermal dysplasia.. [+] Congenital ectodermal defect; Ectodermal dysplasia (disorder); Congenital ectodermal defect (disorder); Congenital ectodermal dysplasia; [-]	A syndrome characterized by abnormal development i..[+] A syndrome characterized by abnormal development in 2 or more ectodermal structures (hair, nails, teeth, and sweat glands) without other systemic findings. [-]
ectodermal dysplasia 1	CST syndrome; ectodermal dysplasia 1, anhidrotic; .. [+] CST syndrome; ectodermal dysplasia 1, anhidrotic; ED1; HED1; hypohidrotic ectodermal dysplasia, X-Linked; X-linked anhidrotic ectodermal dysplasia; XHED; XLHED; Christ-Siemens-Touraine syndrome; ectodermal dysplasia 1, hypohidrotic, X-linked; ectodermal dysplasia 1, hypohidrotic/hair/tooth type, X-linked; [-]	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 10A	ECTD10A; ectodermal dysplasia 10A, hypohidrotic/ha.. [+] ECTD10A; ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; [-]	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 10B	ECTD10B; ectodermal dysplasia 10B, hypohidrotic/ha.. [+] ECTD10B; ectodermal dysplasia 10B, hypohidrotic/hair/nail type, autosomal recessive; [-]	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. [-]
ectodermal dysplasia 11A	ECTD11A; ectodermal dysplasia 11A, hypohidrotic/ha.. [+] ECTD11A; ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant; [-]	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	ECTD11B; ectodermal dysplasia 11B, hypohidrotic/ha.. [+] ECTD11B; ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive; [-]	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 12	ECTD12; ectodermal dysplasia 12, hypohidrotic/hair.. [+] ECTD12; ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; [-]	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 13	ECTD13; ectodermal dysplasia 13, hair/tooth type;	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 14	ECTN14; ectodermal dysplasia 14, hair/tooth type w.. [+] ECTN14; ectodermal dysplasia 14, hair/tooth type with or without hypohidrosis; [-]	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 15	ECTD15; ectodermal dysplasia 15, hypohidrotic/hair.. [+] ECTD15; ectodermal dysplasia 15, hypohidrotic/hair type; [-]	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 4	ECTD4; ectodermal dysplasia 4, hair/nail type;	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 5	ECTD5; ectodermal dysplasia 5, hair/nail type;	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 6	ECTD6; ectodermal dysplasia 6, hair/nail type;	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	ECTD7; ectodermal dysplasia 7, hair/nail type;	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	ECTD8; ectodermal dysplasia 8, hair/tooth/nail typ.. [+] ECTD8; ectodermal dysplasia 8, hair/tooth/nail type; 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 9	ECTD9; ectodermal dysplasia 9, hair/nail type;	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 and immune deficiency	Anhidrotic ectodermal dysplasia with immune defici.. [+] Anhidrotic ectodermal dysplasia with immune deficiency; Ectodermal dysplasia, hypohidrotic, 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. [-]
ectodermal dysplasia, ectrodactyly, and macular dystrophy syndrome	ectodermal dysplasia-ectrodactyly-macular dystroph.. [+] ectodermal dysplasia-ectrodactyly-macular dystrophy syndrome; EEM syndrome; EEMS; [-]	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. [-]
ectomesenchymoma	Rhabdomyosarcoma with ganglionic differentiation (.. [+] Rhabdomyosarcoma with ganglionic differentiation (morphologic abnormality); Rhabdomyosarcoma with ganglionic differentiation; [-]	n_a
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. [-]
ectopic Cushing syndrome	Cushing syndrome due to ectopic ACTH secretion; ec.. [+] Cushing syndrome due to ectopic ACTH secretion; ectopic ACTH secreting tumor; [-]	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. [-]
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. [-]
ectopic thymus		n_a
ectothrix infectious disease		A tinea capitis that results_in fungal infection l..[+] A tinea capitis that results_in fungal infection located_in cuticle of hair, has_material_basis_in Microsporum canis, has_material_basis_in Microsporum gypseum, has_material_basis_in Trichophyton equinum, and has_material_basis_in Trichophyton verrucosum, which produce arthroconidia on the exterior of the hair shaft. [-]
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. [-]
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3	EEC syndrome 3; EEC3;	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. [-]
ectropion	Everted margin; Ectropion of eyelid;	n_a
eczema herpeticum	Eczema herpeticum (disorder) [Ambiguous]; herpes s.. [+] Eczema herpeticum (disorder) [Ambiguous]; herpes simplex dermatitis; Herpes simplex dermatitis of eyelid (disorder); Herpes simplex eyelid dermatitis (disorder); Herpes simplex virus dermatitis; Eczema herpeticum (disorder); Herpes simplex dermatitis of eyelid; Herpes simplex eyelid dermatitis; herpes simplex virus eyelid dermatitis; Eczema herpeticum; [-]	A herpes simplex that results_in infection located..[+] A herpes simplex that results_in infection located_in skin, effected by preexisting dermatosis, has_material_basis_in Human herpesvirus 1 or Human herpesvirus 2. The infection has_symptom watery blisters, has_symptom fever, and has_symptom swelling of the lymph nodes. [-]
eczematous dermatitis of eyelid		n_a
egg allergy	Allergy to eggs;	A food allergy that is an allergy or hypersensitiv..[+] A food allergy that is an allergy or hypersensitivity to dietary substances from the yolk or whites of eggs, causing an overreaction of the immune system which may lead to severe physical symptoms. [-]
ego-dystonic sexual orientation		A sexual health disorder that is characterized by ..[+] A sexual health disorder that is characterized by having a sexual orientation or an attraction that is at odds with one's idealized self-image, causing anxiety and a desire to change one's orientation or become more comfortable with one's sexual orientation. [-]
ehrlichiosis	human ehrlichiosis;	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results in infection located_in leukocyte, has_material_basis_in Ehrlichia chaffeensis or Anaplasma phagocytophilum, which are transmitted_by lone star tick and transmitted_by black-legged tick respectively. The infection has_symptom headache, has_symptom muscle aches, has_symptom fatigue and has_symptom rash. [-]
electroclinical syndrome	electro-clinical syndrome;	An epilepsy syndrome that is a group of clinical e..[+] An epilepsy syndrome that is a group of clinical entities showing a cluster of electro-clinical characteristics, classified according to age at onset, cognitive and developmental antecedents and consequences, motor and sensory examinations, EEG features, provoking or triggering factors, and patterns of seizure occurrence with respect to sleep. [-]	27 articles	6 matches
elephantiasis	Elephantiasis NOS; Elephantiasis;	n_a
embryoma	Blastoma;	A carcinosarcoma and embryonal cancer that is loca..[+] A carcinosarcoma and embryonal cancer that is located_in embryonic tissue and results_in a mass of rapidly growing cells. [-]
embryonal cancer	embryo neoplasm; embryonal neoplasm;	A germ cell cancer that is associated with an embr..[+] A germ cell cancer that is associated with an embryo. [-]
embryonal carcinoma	primary extragonadal embryonal carcinoma;	An embryonal cancer that is a type of germ cell tu..[+] An embryonal cancer that is a type of germ cell tumour that is located_in the ovaries or located_in the testes. [-]
embryonal extrahepatic bile duct rhabdomyosarcoma	Embryonal extrahepatic bile duct Rhabdomyosarcoma;.. [+] Embryonal extrahepatic bile duct Rhabdomyosarcoma; [-]	n_a
embryonal rhabdomyosarcoma		A rhabdomyosarcoma wherein the mesenchymally-deriv..[+] A rhabdomyosarcoma wherein the mesenchymally-derived malignant cells resemble the primitive developing skeletal muscle of the embryo; it occurs most often in the head and neck area or in the genital or urinary organs. [-]
embryonal testis carcinoma	Embryonal carcinoma of testis; embryonal carcinoma.. [+] Embryonal carcinoma of testis; embryonal carcinoma of the testis; testicular embryonal carcinoma; [-]	An embryonal carcinoma that is located_in the test..[+] An embryonal carcinoma that is located_in the testis. [-]
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. [-]
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). [-]
emphysematous cholecystitis	Gaseous pericholecystitis;	A cholecystitis consisting of an inflammation of t..[+] A cholecystitis consisting of an inflammation of the gallbladder characterized by air-filled expansions in interstitial or subcutaneous tissues, where gallbladder wall necrosis causes gas formation in the lumen or wall. [-]
empty sella syndrome	Empty sella syndrome (disorder); Empty sella syndr.. [+] Empty sella syndrome (disorder); Empty sella syndrome; [-]	n_a
enamel caries	Dental caries limited to enamel; primary dental ca.. [+] Dental caries limited to enamel; primary dental caries; simple dental cavity; [-]	n_a

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