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Disease	Synonyms	Description	Articles	Phenotypes
epidermolytic palmoplantar keratoderma	EPPK;	A palmoplantar keratosis that is characterized by ..[+] A palmoplantar keratosis that is characterized by marked hyperkeratosis on the surface of palms and soles. [-]
epidermolytic palmoplantar keratoderma 1	EPPK1;	An epidermolytic palmoplantar keratoderma that has..[+] An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT9 gene on chromosome 17q12.2. [-]
epidermolytic palmoplantar keratoderma 2	EPPK2;	An epidermolytic palmoplantar keratoderma that has..[+] An epidermolytic palmoplantar keratoderma that has_material_basis_in heterozygous mutation in the KRT1 gene on chromosome 12q13.13. [-]
epididymal neoplasm	neoplasm of epididymis (disorder); neoplasm of epi.. [+] neoplasm of epididymis (disorder); neoplasm of epididymis; [-]	n_a
epididymis adenocarcinoma	adenocarcinoma of the epididymis;	An epididymis cancer that derives_from epithelial ..[+] An epididymis cancer that derives_from epithelial cells of glandular origin. [-]
epididymis adenomatoid tumor	benign Epididymal epithelial Mesothelioma; adenoma.. [+] benign Epididymal epithelial Mesothelioma; adenomatoid neoplasm of the epididymis; [-]	A male reproductive organ benign neoplasm that is ..[+] A male reproductive organ benign neoplasm that is located_in the epididymis. [-]
epididymis cancer	malignant Epididymal tumor; malignant tumor of epi.. [+] malignant Epididymal tumor; malignant tumor of epididymis (disorder); malignant neoplasm of epididymis; malignant tumor of epididymis; [-]	A male reproductive organ cancer that is located i..[+] A male reproductive organ cancer that is located in the epididymis. [-]
epididymitis		n_a
epididymo-orchitis		n_a
epidural abscess	abscess epidural;	A central nervous system disease that is character..[+] A central nervous system disease that is characterized by a collection of pus (infected material) between the outer covering of the brain and spinal cord and the bones of the skull or spine and is caused by infection in the area between the bones of the skull or spine, and the membranes covering the brain and spinal cord (meninges). [-]
epidural spinal canal angiolipoma	Angiolipoma of Extradural Spinal canal;	n_a
epidural spinal canal meningioma		n_a
epidural spinal canal neoplasm	Extradural tumor;	n_a
epiglottis cancer	epiglottic cancer; malignant neoplasm of anterior .. [+] epiglottic cancer; malignant neoplasm of anterior aspect of epiglottis; malignant neoplasm of anterior epiglottis NOS (disorder); malignant neoplasm of anterior surface of epiglottis; malignant neoplasm of epiglottis; malignant neoplasm of epiglottis NOS (disorder); malignant tumor of Epiglottis; malignant neoplasm of anterior epiglottis (disorder); [-]	n_a
epiglottis neoplasm	neoplasm of epiglottis (disorder); Epiglottic tumo.. [+] neoplasm of epiglottis (disorder); Epiglottic tumor; neoplasm of epiglottis; [-]	n_a
epiglottitis	acute epiglottitis; acute epiglottitis and supragl.. [+] acute epiglottitis; acute epiglottitis and supraglottitis; [-]	An upper respiratory tract disease which involves ..[+] An upper respiratory tract disease which involves inflammation of the epiglottis due to infection. Haemophilus influenzae type B is the most common bacterial causative agent, although some cases are attributable to Streptococcus pneumoniae or Streptococcus pyogenes. The infection can cause the epiglottis to either obstruct or completely close off the windpipe. Epiglottitis typically affects children, and is associated with fever, difficulty in swallowing, drooling, hoarseness of voice, and stridor. [-]
epilepsy	epilepsy syndrome; epileptic syndrome;	A brain disease that is characterized by the occur..[+] A brain disease that is characterized by the occurrance of at least two unprovoked seizures resulting from a persistent epileptogenic abnormality of the brain that is able to spontaneously generate paroxysmal activity and typically manifested by sudden brief episodes of altered or diminished consciousness, involuntary movements, or convulsions. [-]	94 articles	13 matches
epilepsy with generalized tonic-clonic seizures	Epileptic seizures, tonic-clonic; Grand Mal epilep.. [+] Epileptic seizures, tonic-clonic; Grand Mal epilepsy; tonic-clonic epilepsy; [-]	An adolescence-adult electroclinical syndrome star..[+] An adolescence-adult electroclinical syndrome starting in adolescence exhibiting generalized tonic-clonic seizures as the only seizure type. [-]
epiphora due to excess lacrimation		n_a
epiphora due to insufficient drainage		n_a
episcleritis periodica fugax		A scleral disease that is characterized by painful..[+] A scleral disease that is characterized by painful inflammation of the episcleral tissues that, importantly, spares the sclera itself and has_symptom pain, red eyes, photophobia, tearing, and blurry vision. Episcleritis periodica fugax is typically self-limited but may be related to vascular congestion within the superficial episcleral plexus and associated with autoimmune disease, connective tissue disease, malignancies, trauma, infection, and medications, especially topiramate and pamidronate. [-]
episodic ataxia	Isaacs syndrome;	A hereditary ataxia characterized by sporadic bout..[+] A hereditary ataxia characterized by sporadic bouts of ataxia with or without continuous muscle movement. [-]	13 articles
episodic ataxia type 1		An episodic ataxia that is characterized by period..[+] An episodic ataxia that is characterized by periodic ataxia and frequent myokymic discharges, and has_material_basis_in autosomal dominant inheritance of mutation in the potassium channel gene KCNA1. [-]	7 articles
episodic ataxia type 2		An episodic ataxia that is characterized by period..[+] An episodic ataxia that is characterized by periodic ataxia and nystagmus, and has_material_basis_in autosomal dominant inheritance of mutation in the calcium channel gene CACNA1A. [-]	1 articles
episodic ataxia type 3		An episodic ataxia that is characterized by period..[+] An episodic ataxia that is characterized by periodic ataxia, myokymia, vertigo and tinnitus, and has_material_basis_in autosomal dominant inheritance. [-]
episodic ataxia type 4		An episodic ataxia that is characterized by vertig..[+] An episodic ataxia that is characterized by vertigo and diplopia. [-]
episodic ataxia type 5		An episodic ataxia that is characterized by dysart..[+] An episodic ataxia that is characterized by dysarthria and vertigo, develops in early childhood, and has_material_basis_in autosomal dominant inheritance of mutation in the CACNB4 gene. [-]
episodic ataxia type 6		An episodic ataxia that is characterized by nystag..[+] An episodic ataxia that is characterized by nystagmus and dysarthria, and has_material_basis_in autosomal dominant inheritance of mutation in the SLC1A3 gene. [-]	1 articles
episodic ataxia type 7		An episodic ataxia that is characterized by episod..[+] An episodic ataxia that is characterized by episodes of weakness and dysarthria, and has_material_basis_in autosomal dominant inheritance. [-]
episodic ataxia type 8		An episodic ataxia that is characterized by weakne..[+] An episodic ataxia that is characterized by weakness, dysarthria and myokymia, and has_material_basis_in autosomal dominant inheritance of mutation in the UBR4 gene. [-]
episodic ataxia type 9		An episodic ataxia that is characterized by onset ..[+] An episodic ataxia that is characterized by onset of ataxic episodes in the first years of life that has_material_basis_in heterozygous mutation in the SCN2A gene on chromosome 2q23. [-]
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. [-]
episodic kinesigenic dyskinesia 3		A dystonia characterized by dystonia, chorea, athe..[+] A dystonia characterized by dystonia, chorea, athetosis, and other hyperkinetic movements that has_material_basis_in heterozygous mutation in the TMEM151A gene on chromosome 11q13. [-]
epithelial and subepithelial 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. [-]
epithelial malignant thymoma	Thymoma, epithelial; Well differentiated thymic ca.. [+] Thymoma, epithelial; Well differentiated thymic carcinoma; Squamoid Thymoma; [-]	n_a
epithelial predominant Wilms' tumor	epithelial predominant kidney adenosarcoma; epithe.. [+] epithelial predominant kidney adenosarcoma; epithelial Predominant renal Wilms tumor; epithelial Predominant renal Wilms tumour; epithelial predominant Wilms' tumour; [-]	n_a
epithelial predominant pulmonary blastoma		n_a
epithelial recurrent erosion dystrophy	COL17A1; ERED;	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. [-]
epithelial-myoepithelial carcinoma		n_a
epithelial-stromal TGFBI dystrophy		n_a
epithelioid cell melanoma	epithelioid cell melanoma (morphologic abnormality.. [+] epithelioid cell melanoma (morphologic abnormality); epithelioid melanoma; [-]	n_a
epithelioid cell synovial sarcoma	epithelioid Synovial sarcoma; Synovial sarcoma, ep.. [+] epithelioid Synovial sarcoma; Synovial sarcoma, epithelioid cell (morphologic abnormality); Synovial sarcoma, epithelioid cell; [-]	n_a
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. [-]
epithelioid leiomyosarcoma		A leiomyosarcoma that is composed predominantly or..[+] A leiomyosarcoma that is composed predominantly or entirely of round or polygonal cells with eosinophilic, or much less commonly, clear cytoplasm. [-]
epithelioid malignant peripheral nerve sheath tumor	malignant epithelioid neoplasm of the peripheral n.. [+] malignant epithelioid neoplasm of the peripheral nerve Sheath; epithelioid MPNST; [-]	n_a
epithelioid neurofibroma	epithelioid Neurofibroma; epithelioid neurofibroma.. [+] epithelioid Neurofibroma; epithelioid neurofibroma (disorder); [-]	n_a
epithelioid sarcoma	epithelioid cell sarcoma;	A connective tissue cancer that is characterized b..[+] A connective tissue cancer that is characterized by the presence of epithelioid cells forming nodular patterns and has_material_basis_in mesenchymal tissue. [-]
epithelioid trophoblastic tumor		n_a

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