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??? 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
granulomatous amebic encephalitis	Acanthamoeba granulomatous encephalitis; Acanthamo.. [+] Acanthamoeba granulomatous encephalitis; Acanthamoeba encephalitis; Granulomatous Amebic Encephalitis due to Acanthamoeba; granulomatous amoebic encephalitis [-]	A parasitic protozoa infectious disease that resul..[+] A parasitic protozoa infectious disease that results in infection of the brain caused by Acanthamoeba or Balamuthia mandrillaris. The symptoms include headaches, altered mental status, and focal neurologic deficit, which progresses over several weeks to death. [-]
familial adenomatous polyposis	adenomatous polyposis of the colon	An intestinal disease that has_material_basis_in m..[+] An intestinal disease that has_material_basis_in mutations in the APC gene and involves formation of numerous polyps in the epithelium of the large intestine which are initially benign and later transform into colon cancer. [-]	3 articles
Danon disease	ANTOPOL DISEASE; PSEUDOGLYCOGENOSIS II	A lysosomal storage disease that is characterized ..[+] A lysosomal storage disease that is characterized by cardiomyopathy, skeletal myopathy and intellectual disability and has_material_basis_in mutations in the LAMP2 gene. [-]
campomelic dysplasia	Acampomelic Campomelic Dysplasia	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in heterozygous mutation in the SOX9 gene on chromosome 17q24 and that is characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. [-]	3 articles
Farber lipogranulomatosis	acid ceramidase deficiency; Acid Ceramidase Defici.. [+] acid ceramidase deficiency; Acid Ceramidase Deficiency; Farber Disease; N-LAURYLSPHINGOSINE DEACYLASE DEFICIENCY; Farber disease; N-laurylsphingosine deacylase deficiency [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by abnormalities in swallowing, cognition, joint function, and central nervous system due to a deficiency in the enzyme ceramidase that results in sphingolipids deposition. [-]
Gamstorp-Wohlfart syndrome	autosomal recessive neuromyotonia and axonal neuro.. [+] autosomal recessive neuromyotonia and axonal neuropathy; myokymia, myotonia and muscle wasting [-]	A syndrome characterized by progressive weakness a..[+] A syndrome characterized by progressive weakness and atrophy of muscles in feet, legs and hands. In some patients the syndrome also causes decreased sensitivity to touch, heat or cold, particularly in the lower arms or legs. [-]	1 articles
nonphotosensitive trichothiodystrophy 4	AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; .. [+] AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; HAIR-BRAIN SYNDROME; BIDS syndrome; TTD4 [-]	A syndrome that is characterized by brittle hair, ..[+] A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. [-]
congenital adrenal insufficiency	Adrenal insufficiency, congenital, with 46,XY sex .. [+] Adrenal insufficiency, congenital, with 46,XY sex reversal; ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; P450scc DEFICIENCY [-]	An adrenal gland disease that is characterized by ..[+] An adrenal gland disease that is characterized by cortisol deficiency, hypoaldosteronism and excessive or insufficient sex hormones, has_material_basis_in the mutation in the gene for 21-hydroxylase, 11beta-hydroxylase, 3beta-hydroxysteroid, 17alpha-hydroxylase or 20,22-desmolase. [-]
X-linked sideroblastic anemia with ataxia	Anemia, sideroblastic, spinocerebellar ataxia; Ane.. [+] Anemia, sideroblastic, spinocerebellar ataxia; Anemia sideroblastic and spinocerebellar ataxia; X-linked sideroblastic anemia and ataxia; X-linked sideroblastic anaemia and ataxia; X-linked sideroblastic anaemia with ataxia [-]	A sideroblastic anemia that is characterized by de..[+] A sideroblastic anemia that is characterized by decreased production of hemoglobin and ataxia and has_material_basis_in the mutation in the ABCB7 gene. [-]
congenital disorder of glycosylation type I	ALG9-CDG (CDG-1l); ALG12-CDG (CDG-1g); ALG8-CDG (C.. [+] ALG12-CDG (CDG-1g); ALG9-CDG (CDG-1l); ALG8-CDG (CDG-1h); ALG6-CDG (CDG-1c); ALG3-CDG (CDG-1d); ALG2-CDG (CDG-1i); ALG11-CDG (CDG-1p); ALG1-CDG (CDG-1k); DPAGT1-CDG (CDG-1j); DPM1-CDG (CDG-1e); DPM2-CDG (CDG-1u); DPM3-CDG (CDG-1o); MPDU1-CDG (CDG-1f); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q); DOLK-CDG (CDG-1m); MPI-CDG (CDG-1b) [-]	A congenital disorder of glycosylation characteriz..[+] A congenital disorder of glycosylation characterized by under-glycosylated serum glycoproteins. [-]
triple-A syndrome	Allgrove Syndrome; AAAS; Achalasia-Addisonianism-A.. [+] AAAS; Allgrove Syndrome; Achalasia-Addisonianism-Alacrimia syndrome [-]	A syndrome characterized by achalasia, adrenal ins..[+] A syndrome characterized by achalasia, adrenal insufficiency and alacrima and has_material_basis_in mutations in the AAAS gene that encodes ALADIN within the nuclear envelope and results in dysfunction of the autonomic nervous system. [-]
paranasal sinus cancer	adenoid cystic carcinoma of paranasal sinus; adeno.. [+] adenoid cystic carcinoma of paranasal sinus; adenoid cystic carcinoma of Accessory sinus; Epidermoid carcinoma of the paranasal sinus; Mucoepidermoid carcinoma of Accessory sinus; paranasal sinus adenocarcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus; paranasal sinus mucoepidermoid carcinoma; paranasal sinus adenoid cystic carcinoma [-]	A respiratory system cancer that is located_in the..[+] A respiratory system cancer that is located_in the paranasal sinuses. [-]
ocular albinism 1	Albinism ocular 1; ocular albinism	An eye disease that is characterized by reduced pi..[+] An eye disease that is characterized by reduced pigmentation of the iris and the resulting impairment of visual acuity without significantly affecting the color of skin or hair and has_material_basis_in mutation in the GPR143 gene that encodes segments of the melanosomes that stores melanin. [-]		5 matches
familial visceral amyloidosis	AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidos.. [+] AMYLOIDOSIS, FAMILIAL RENAL; German type amyloidosis; OSTERTAG TYPE AMYLOIDOSIS; systemic nonneuropathic amyloidosis [-]	An amyloidosis that is characterized by the abnorm..[+] An amyloidosis that is characterized by the abnormal deposition of amyloid proteins that is located_in the visceral organs, primarily the kidneys. [-]
Finnish type amyloidosis	AMYLOIDOSIS, MERETOJA TYPE; AGel amyloidosis; gels.. [+] AGel amyloidosis; AMYLOIDOSIS, MERETOJA TYPE; gelsolin amyloidosis; Lattice corneal dystrophy type II [-]	An amyloidosis that is characterized by abnormal d..[+] An amyloidosis that is characterized by abnormal deposits of amyloid protein that mainly affect the eyes, nerves and skin and has_material_basis_in mutations in the gelsolin gene (GSN), and has_symptom corneal lattice dystrophy, has_symptom bilateral facial paralysis, has_symptom cutis laxa. [-]
transthyretin amyloidosis	ATTR amyloidosis; ATTRm amyloidosis; Amyloidosis, .. [+] ATTRm amyloidosis; ATTR amyloidosis; Amyloidosis, hereditary, transthyretin-related; familial amyloid polyneuropathy; transthyretin-related hereditary amyloidosis; TTR amyloidosis; Familial transthyretin amyloidosis; paramyloidosis; Corino de Andrade's disease [-]	An amyloidosis that is characterized by a loss of ..[+] An amyloidosis that is characterized by a loss of sensation in the extremities, cardiomyopathy, nephropathy, vitreous opacities, and CNS amyloidosis resulting from abnormal deposits of amyloid protein in the body's organs and tissues and has_material_basis_in autosomal dominant inheritance of mutations in the TTR gene. [-]
distal arthrogryposis	Arthrogryposis Multiplex Congenita; Freeman-Sheldo.. [+] Arthrogryposis Multiplex Congenita; Freeman-Sheldon syndrome; Sheldon-Hall syndrome; Freeman-Sheldon syndrome variant [-]	A muscle tissue disease characterized by congenita..[+] A muscle tissue disease characterized by congenital joint contractures of hand and feet. [-]	3 articles
familial atrial fibrillation	ATFB	An atrial fibrillation that has_material_basis_in ..[+] An atrial fibrillation that has_material_basis_in autosomal dominant inheritance of the familial atrial fibrillation (ATFB) genes. [-]
bestrophinopathy	autosomal recessive bestrophinopathy	A macular degeneration that is characterized by ce..[+] A macular degeneration that is characterized by central vision loss, an absent electrooculogram light rise and a reduced electroretinogram, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the BEST1 gene on chromosome 11q12. [-]
dyskinetic cerebral palsy	Athetoid Dyskinetic Cerebral Palsy	A cerebral palsy that is caused by damage to the e..[+] A cerebral palsy that is caused by damage to the extrapyramidal motor system and/or pyramidal tract and to the basal ganglia, which results in mixed muscle tone (hypertonia and hypotonia). The individuals have trouble holding themselves in an upright, steady position for sitting or walking, and often show involuntary motions. [-]
Blau syndrome	ARTHROCUTANEOUVEAL GRANULOMATOSIS; Jabs syndrome; .. [+] ARTHROCUTANEOUVEAL GRANULOMATOSIS; Jabs syndrome; BLAUS [-]	A syndrome characterized by familial granulomatous..[+] A syndrome characterized by familial granulomatous arthritis, uveitis and skin granulomas. It has_material_basis_in heterozygous mutations in the NOD2 gene. [-]
spinocerebellar ataxia with axonal neuropathy 2	autosomal recessive spinocerebellar ataxia with ax.. [+] autosomal recessive spinocerebellar ataxia with axonal neuropathy 2; autosomal recessive spinocerebellar ataxia 1; ataxia with oculomotor apraxia type 2; AOA2; SCAN2; SCAR1; spinocerebellar ataxia with axonal neuropathy type 2 [-]	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by the onset of ataxia between age three and thirty including axonal sensorimotor neuropathy, cerebellar atrophy and elevated alpha-fetoprotein that has_material_basis_in homozygous or compound heterozygous mutation in the SETX gene on chromosome 9q34.13. Oculomotor apraxia is common, but not universal. [-]
fibular hypoplasia and complex brachydactyly	acromesomelic dysplasia-2B; Du Pan syndrome	An acromesomelic dysplasia that is characterized b..[+] An acromesomelic dysplasia that is characterized by severe reduction or absence of the fibula and complex brachydactyly. [-]
congenital adrenal hyperplasia	adrenal hyperplasia 1; congenital lipoid adrenal h.. [+] adrenal hyperplasia 1; congenital lipoid adrenal hyperplasia; lipoid CAH [-]	A steroid inherited metabolic disorder that is cha..[+] A steroid inherited metabolic disorder that is characterized by adrenal insufficiency and variable degrees of hyper or hypo androgyny manifestations resulting from steroidogenic enzyme deficiency. [-]
pancreatic agenesis	Agenesis of the dorsal pancreas; partial pancreati.. [+] Agenesis of the dorsal pancreas; partial pancreatic agenesis [-]	A pancreas disease that is characterized by the fa..[+] A pancreas disease that is characterized by the failure of the pancreas to develop prior to birth. [-]	1 articles
Troyer syndrome	autosomal recessive spastic paraplegia type 20; au.. [+] autosomal recessive spastic paraplegia type 20; autosomal recessive spastic paraplegia Troyer type; autosomal recessive spastic paraplegia 20; childhood-onset spastic paraparesis with distal muscle wasting; hereditary spastic paraplegia 20; spastic paraplegia 20 (Troyer syndrome); spastic paraplegia type 20; SPG20; spastic paraplegia 20 [-]	A hereditary spastic paraplegia that is characteri..[+] A hereditary spastic paraplegia that is characterized by spasticity of the leg muscles, progressive muscle weakness, paraplegia, muscle wasting in the hands and feet (distal amyotrophy), small stature, developmental delay, learning disorders, speech difficulties (dysarthria), and mood swings, and has_material_basis_in a mutation of the SPG20 gene. [-]
synucleinopathy	alpha Synucleinopathies; Synucleinopathies	A neurodegenerative disease that is characterized ..[+] A neurodegenerative disease that is characterized by the abnormal accumulation of aggregates of alpha-synuclein protein in neurons, nerve fibres or glial cells. [-]	15 articles
spinocerebellar ataxia type 27	autosomal dominant congenital nystagmus 4; congeni.. [+] autosomal dominant congenital nystagmus 4; congenital nystagmus 4; vestibulocerebellar disorder with predominant ocular signs [-]	An autosomal dominant cerebellar ataxia that is ch..[+] An autosomal dominant cerebellar ataxia that is characterized by slowly progressive ataxia, early-onset tremor and dyskinesia, and has_material_basis_in heterozygous mutation in the FGF14 gene on chromosome 13q33. Some patients have heterozygous deletions of chromosome 13q33 affecting the FGF14 and ITGBL1 genes, which may thus be considered a contiguous gene deletion syndrome. [-]
reticular dysgenesis	aleukocytosis; De Vaal disease	A severe combined immunodeficiency that is the mos..[+] A severe combined immunodeficiency that is the most severe form of SCID and has_material_basis_in mutations in the gene encoding mitochondrial adenylate kinase 2. It is characterized by congenital agranulocytosis, lymphopenia, and lymphoid and thymic hypoplasia with absent cellular and humoral immunity functions. [-]
gluten allergy	allergy to gluten; gluten allergic reaction	A food allergy that develops from an immune reacti..[+] A food allergy that develops from an immune reaction to eating gluten, a protein found in wheat, barley, rye and triticale and that is characterized by stomach cramping, diarrhea and gastrointestinal upset and is unrelated to the gluten intolerance. [-]
pain agnosia	analgesia	An agnosia that is a loss of the ability to percei..[+] An agnosia that is a loss of the ability to perceive and process pain. [-]	2 articles
frontotemporal dementia and/or amyotrophic lateral sclerosis 6	amyotrophic lateral sclerosis type 14; amyotrophic.. [+] amyotrophic lateral sclerosis type 14; amyotrophic lateral sclerosis, with or without frontotemporal dementia; amyotrophic lateral sclerosis 14; ALS14 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VCP gene on chromosome 9p13. [-]
frontotemporal dementia and/or amyotrophic lateral sclerosis 1	ALSFTD; amyotrophic lateral sclerosis and/or front.. [+] ALSFTD; amyotrophic lateral sclerosis and/or frontotemporal dementia; frontotemporal dementia and/or amyotrophic lateral sclerosis 1; frontotemporal dementia and/or motor neuron disease; FTDMND; FTDALS1 [-]	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the C9ORF72 gene on chromosome 9. It is characterized by adult onset of either frontotemporal dementia and/or amyotrophic lateral sclerosis. [-]
Carpenter syndrome	acrocephalopolysyndactyly type II	An acrocephalosyndactylia characterized by cranios..[+] An acrocephalosyndactylia characterized by craniosynostosis, acrocephaly, obesity, syndactyly and polydactyly. [-]
Mast syndrome	autosomal recessive spastic paraplegia type 21; au.. [+] autosomal recessive spastic paraplegia type 21; autosomal recessive spastic paraplegia 21; hereditary spastic paraplegia 21; SPG21 [-]	A hereditary spastic paraplegia associated with de..[+] A hereditary spastic paraplegia associated with dementia. [-]
Robinow syndrome	acral dysostosis with facial and genital abnormali.. [+] acral dysostosis with facial and genital abnormalities; Robinow dwarfism; fetal face syndrome [-]	A syndrome characterized by mild to moderate short..[+] A syndrome characterized by mild to moderate short stature due to growth delays after birth, distinctive craniofacial abnormalities, skeletal malformations and genital abnormalities. [-]	1 articles
rippling muscle disease 2	autosomal dominant limb-girdle muscular dystrophy .. [+] autosomal dominant limb-girdle muscular dystrophy type 1C [-]	A muscle tissue disease characterized by mechanica..[+] A muscle tissue disease characterized by mechanically triggered contractions of skeletal muscle and that has_material_basis_in mutation in the caveolin-3 gene (CAV3) on chromosome 3p25. [-]
megalocornea	anterior megalophthalmos; congenital anterior mega.. [+] anterior megalophthalmos; congenital anterior megalophthalmia [-]	A corneal disease that is characterized by a bilat..[+] A corneal disease that is characterized by a bilaterally enlarged corneal diameter without an increase in intraocular pressure and that has_material_basis_in mutation in the CHRDL1 gene. [-]	1 articles
uvulitis	acute uvulitis	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the swelling of the uvula to 3-5 times its normal size. [-]
Rapp-Hodgkin syndrome	anhidrotic ectodermal dysplasia with cleft lip/pal.. [+] anhidrotic ectodermal dysplasia with cleft lip/palate; ectodermal dysplasia syndrome, Rapp-Hodgkin type; RHS; ectodermal dysplasia, Rapp-Hodgkin type [-]	An ectodermal dysplasia characterized by abnormal ..[+] An ectodermal dysplasia characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. [-]
chylomicron retention disease	Anderson disease; CMRD	A lipid metabolism disorder characterized by malnu..[+] A lipid metabolism disorder characterized by malnutrition, failure to thrive, growth failure, vitamin E deficiency and the absence of chylomicrons and apolipoprotein B48 post-prandially. It has an autosomal recessive inheritance pattern and has_material_basis_in mutations in the SAR1B gene on chromosome 5q31.1. [-]
Sakati-Nyhan syndrome	acrocephalopolysyndactyly Type III; acrocephalopol.. [+] acrocephalopolysyndactyly Type III; acrocephalopolysyndactyly type 3; ACPS with leg hypoplasia; Sakati-Nyhan-Tisdale syndrome; Sakati syndrome [-]	An acrocephalosyndactylia characterized by abnorma..[+] An acrocephalosyndactylia characterized by abnormalities in the bones of the legs, congenital heart defects and craniofacial defects and craniosynostosis. The patients suffer from cyanosis and other respiratory and breathing infections. [-]
punctate palmoplantar keratoderma type III	acrokeratoelastoidosis of Costa; punctate palmopla.. [+] acrokeratoelastoidosis of Costa; punctate palmoplantar keratoderma type 3; punctate palmoplantar hyperkeratosis type 3 [-]	A punctate palmoplantar keratoderma that is charac..[+] A punctate palmoplantar keratoderma that is characterized by hyperkeratinization of the palms and soles, has_material_basis_in autosomal dominant inheritance of mutation in the AAGAB gene. [-]
Galloway-Mowat syndrome 1	autosomal recessive spinocerebellar ataxia 5; Gall.. [+] autosomal recessive spinocerebellar ataxia 5; Galloway syndrome; nephrosis-microcephaly syndrome; nephrosis-neuronal dysmigration syndrome; microcephaly, hiatal hernia and nephrotic syndrome; SCAR5 [-]	A Galloway-Mowat syndrome that has_material_basis_..[+] A Galloway-Mowat syndrome that has_material_basis_in homozygous mutation in the WDR73 gene on chromosome 15q25. [-]	2 articles	21 matches
Parkinson's disease 1	autosomal dominant Parkinson's disease 1; autosoma.. [+] autosomal dominant Parkinson's disease 1; autosomal dominant Parkinson disease 1 [-]	A late onset Parkinson's disease that has_material..[+] A late onset Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein gene on chromosome 4q22.1. [-]
Parkinson's disease 2	autosomal recessive juvenile Parkinson's disease 2.. [+] autosomal recessive juvenile Parkinson's disease 2; autosomal recessive juvenile Parkinson disease 2 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutation in the parkin gene on chromosome 6q25.2-q27. [-]
Parkinson's disease 6	autosomal recessive early-onset Parkinson's diseas.. [+] autosomal recessive early-onset Parkinson's disease 6; autosomal recessive early-onset Parkinson disease 6; early-onset Parkinson disease 6; PARK6 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutations in the PINK1 gene on chromosome 1p36.12. [-]
Parkinson's disease 7	autosomal recessive early-onset Parkinson's diseas.. [+] autosomal recessive early-onset Parkinson's disease 7; autosomal recessive early-onset Parkinson disease 7 [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [-]	1 articles
Parkinson's disease 8	autosomal dominant Parkinson's disease 8; autosoma.. [+] autosomal dominant Parkinson's disease 8; autosomal dominant Parkinson disease 8 [-]	A late onset Parkinson's disease that has_material..[+] A late onset Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene on chromosome 12q12. [-]	1 articles
Parkinson's disease 15	autosomal recessive early-onset Parkinson's diseas.. [+] autosomal recessive early-onset Parkinson's disease 15; autosomal recessive early-onset Parkinson disease 15; Parkinsonian-pyramidal syndrome; pallidopyramidal syndrome [-]	An early-onset Parkinson's disease that has_materi..[+] An early-onset Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. [-]

???pagination.result.page??? ???pagination.result.prev??? 26 27 28 29 30 31 32 33 34 35 36 37 38 39 40 41 42 43 44 ???pagination.result.next???