Xenbase

Search Diseases

Alphabetic Search:

A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

???pagination.result.count???

???pagination.result.page??? ???pagination.result.prev??? 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
ear cancer	malignant tumor of ear; auricular cancer; malignan.. [+] malignant tumor of ear; auricular cancer; malignant ear neoplasm; [-]	n_a
early congenital syphilis		A congenital syphilis that is manifested during th..[+] A congenital syphilis that is manifested during the first 3 months of life. The infection has_symptom skin lesions, has_symptom lymphadenopathy, has_symptom hepatosplenomegaly, has_symptom failure to thrive, has_symptom blood-stained nasal discharge, has_symptom perioral fissures, has_symptom meningitis, has_symptom choroiditis, has_symptom hydrocephalus, has_symptom seizures, has_symptom intellectual disability, has_symptom osteochondritis, and has_symptom pseudoparalysis. [-]
early infantile epileptic encephalopathy	EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; Ear.. [+] EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15; Early Infantile Epileptic Encephalopathy ; Early Infantile Epileptic Encephalopathy with Burst-Suppression; [-]	A neonatal period electroclinical syndrome that is..[+] A neonatal period electroclinical syndrome that is characterized by tonic spasms and partial seizures. [-]	6 articles	6 matches
early invasive cervical adenocarcinoma		A cervical adenocarcinoma that is characterized by..[+] A cervical adenocarcinoma that is characterized by tumor cells that are identical to those in adenocarcinoma in situ (ACIS) and mcroscopic findings that suggest invasion. [-]
early myoclonic encephalopathy	Epileptic seizures - myoclonic (disorder); Epilept.. [+] Epileptic seizures - myoclonic (disorder); Epileptic seizures, myoclonic; Myoclonic seizure; Myoclonic seizure disorder; myoclonic epilepsy; Epileptic seizures - myoclonic; myoclonia epileptica; [-]	n_a
early onset absence epilepsy		A childhood electroclinical syndrome characterized..[+] A childhood electroclinical syndrome characterized by the occurrence of typical absence seizures starting between the age of four and ten years. [-]
early onset progressive encephalopathy with brain atrophy and thin corpus callosum	early-onset progressive encephalopathy with brain .. [+] early-onset progressive encephalopathy with brain atrophy and thin corpus callosum; PEBAT; [-]	An autosomal recessive intellectual developmental ..[+] An autosomal recessive intellectual developmental disorder characterized by onset at birth or in infancy of developmental delay, intellectual disability, seizures, secondary hypomyelination, cerebral atrophy, and thin corpus callosum that has_material_basis_in homozygous or compound heterozygous mutation in the TBCD gene on chromosome 17q25. [-]
early yaws	bone and joint lesions due to yaws; bone and joint.. [+] bone and joint lesions due to yaws; bone and joint yaws lesion; Initial lesions of yaws; chancre of yaws; Initial frambesial ulcer; Frambesia, initial or primary; primary frambesia; [-]	A yaws that results in initial papule at the site ..[+] A yaws that results in initial papule at the site of entry of bacteria. Without treatment, this is followed by disseminated skin lesions over the body. Bone pain and bone lesions may also occur. [-]
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. [-]
early-onset Parkinson's disease	early-onset Parkinson disease; Young-onset Parkins.. [+] early-onset Parkinson disease; Young-onset Parkinson disease; [-]	A Parkinson's disease characterized by onset of mo..[+] A Parkinson's disease characterized by onset of motor symptoms earlier than typically seen, usually prior to 50 years of age. [-]	1 articles
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. [-]
early-onset epilepsy 3	EPEO3;	An epilepsy characterized by infantile or childhoo..[+] An epilepsy characterized by infantile or childhood onset of various types of seizures with variable global developmental delay and intellectual disability that has_material_basis_in heterozygous mutation in the ATP6V0C gene on chromosome 16p13.3. [-]
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. [-]
early-onset vitamin B6-dependent epilepsy 1	early-onset vitamin B6-dependent epilepsy; EPEO1; .. [+] early-onset vitamin B6-dependent epilepsy; EPEO1; 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. [-]
early-onset vitamin B6-dependent epilepsy 4	AASA dehydrogenase deficiency; antiquitin deficien.. [+] AASA dehydrogenase deficiency; antiquitin deficiency; EPEO4; PDE-ALDH7A1; [-]	A pyridoxine-dependent epilepsy that has_material_..[+] A pyridoxine-dependent epilepsy that has_material_basis_in homozygous or compound heterozygous mutation in the ALDH7A1 gene on chromosome 5q23.2. [-]
eating disorder		A specific developmental disorder that is characte..[+] A specific developmental disorder that is characterized by abnormal eating habits that may involve either insufficient or excessive food intake to the detriment of an individual's physical and emotional health. [-]
eccrine acrospiroma	Eccrine hidradenoma (disorder); Eccrine hidradenom.. [+] Eccrine hidradenoma (disorder); Eccrine hidradenoma of skin; Poroma (Acrospiroma); Eccrine acrospiroma; Eccrine hidradenoma; Poroma; [-]	n_a
eccrine adenocarcinoma	Eccrine adenocarcinoma; Eccrine adenocarcinoma (mo.. [+] Eccrine adenocarcinoma; Eccrine adenocarcinoma (morphologic abnormality); [-]	An eccrine sweat gland cancer that derives_from ep..[+] An eccrine sweat gland cancer that derives_from epithelial cells of glandular origin. [-]
eccrine mixed tumor of skin	Eccrine mixed tumor (disorder); mixed Eccrine neop.. [+] Eccrine mixed tumor (disorder); mixed Eccrine neoplasm of the skin; Eccrine mixed tumor (morphologic abnormality); eccrine mixed tumour of skin; Eccrine mixed tumor; Eccrine mixed tumour; [-]	n_a
eccrine papillary adenocarcinoma	Digital papillary adenocarcinoma;	n_a
eccrine papillary adenoma	Eccrine papillary adenoma of skin; papillary eccri.. [+] Eccrine papillary adenoma of skin; papillary eccrine adenoma; [-]	A eccrine sweat gland neoplasm that is characteriz..[+] A eccrine sweat gland neoplasm that is characterized by isolated well-circumscribed dermal nodule existent for a prolonged duration of time. [-]
eccrine porocarcinoma	Eccrine porocarcinoma of skin (disorder); Porocarc.. [+] Eccrine porocarcinoma of skin (disorder); Porocarcinoma; Eccrine porocarcinoma of skin; malignant Eccrine Poroma; [-]	n_a
eccrine sweat gland cancer	malignant Eccrine tumor; malignant eccrine skin ne.. [+] malignant Eccrine tumor; malignant eccrine skin neoplasm; [-]	n_a
eccrine sweat gland neoplasm	eccrine skin neoplasm; Eccrine tumor;	n_a
echinococcosis	Echinococcosis, unspecified, of liver (disorder); .. [+] Echinococcosis, unspecified, of liver (disorder); Liver echinococcus unspecified (disorder); Echinococcosis of liver (disorder); Echinococcosis, unspecified, of liver; hepatic echinococcosis; hydatid disease; pulmonary echinococcosis; echinococcal disease; Echinococcosis of liver; hydatidosis; liver echinococcus; [-]	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of humans and domestic animals caused by the larval stages of tapeworms of the genus Echinococcus in the liver, lungs, spleen, brain, heart and kidneys. [-]
echinostomiasis	Infection by Echinochasmus;	A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves parasitic infection of the intestine by Echinostoma species. The symptoms include nausea, vomiting, diarrhea, fever and abdominal pain. [-]
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. [-]

???pagination.result.page??? ???pagination.result.prev??? 87 88 89 90 91 92 93 94 95 96 97 98 99 100 101 102 103 104 105 106 107 ???pagination.result.next???