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Disease	Synonyms	Description	Articles	Phenotypes
Askin's tumor	Askin's tumour; Askin tumour; Askin tumor	An Ewing sarcoma that arises from the soft tissues..[+] An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. [-]
advanced sleep phase syndrome	familial advanced sleep-phase syndrome	A sleep disorder that involves an altered circadia..[+] A sleep disorder that involves an altered circadian rhythm resulting in falling asleep in early evening and awaking very early in the morning. [-]
Aicardi-Goutieres syndrome	AGS; Cree encephalitis	A syndrome that is a genetically heterogeneous enc..[+] A syndrome that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. [-]
Aland Island eye disease	Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE O.. [+] Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBINISM [-]	An eye disease characterized by fundus hypopigment..[+] An eye disease characterized by fundus hypopigmentation, decreased visual acuity, nystagmus, astigmatism, myopia and defective darkness adaptation and has_material_basis_in mutation in the CACNA1F gene. [-]
Allan-Herndon-Dudley syndrome	AHDS; ALLAN-HERNDON SYNDROME	A syndrome that has_material_basis_in mutation at ..[+] A syndrome that has_material_basis_in mutation at is in the gene encoding the monocarboxylate transporter-8 which alters the structure and function of the SLC16A2 protein which is then unable to transport the thyroid triiodothyronine (T3) hormone into nerve cells of the developing brain affecting normal brain development resulting in intellectual disability and problems with movement. [-]	1 articles
alopecia universalis	ALOPECIA UNIVERSALIS CONGENITA	An alopecia characterized by the complete loss of ..[+] An alopecia characterized by the complete loss of hair on the scalp and body. [-]
alternating hemiplegia of childhood	AHC	A hemiplegia characterized by recurrent episodes o..[+] A hemiplegia characterized by recurrent episodes of temporary weakness or complete paralysis on one or both sides of the body. [-]	2 articles
anauxetic dysplasia 1	spondylometaepiphyseal dysplasia, Menger type	An anauxetic dysplasia that has_material_basis_in ..[+] An anauxetic dysplasia that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13. [-]
arterial calcification of infancy	generalized arterial calcification of infancy; idi.. [+] generalized arterial calcification of infancy; idiopathic infantile arterial calcification; infantile arteriosclerosis [-]	A vascular disease that is characterized by genera..[+] A vascular disease that is characterized by generalized calcification of the arterial internal elastic lamina, leading to rupture of the lamina and occlusive changes in the tunica intima with stenosis and decreased elasticity of the vessel wall. [-]
arterial tortuosity syndrome		A connective tissue disease that is characterized ..[+] A connective tissue disease that is characterized by elongation and generalized tortuosity of the major arteries including the aorta. [-]
Arts syndrome	ARTS; fatal X-linked ataxia with deafness and loss.. [+] ARTS; fatal X-linked ataxia with deafness and loss of vision; MRXSARTS; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy; MRXS18 [-]	An X-linked disease that is characterized by profo..[+] An X-linked disease that is characterized by profound congenital sensorineural hearing impairment, early-onset hypotonia, delayed motor development, mild to moderate intellectual disability, ataxia, and increased risk of infection and has_material_basis_in mutations of the PRPS1 gene. [-]
atelosteogenesis		An osteochondrodysplasia that is characterized by ..[+] An osteochondrodysplasia that is characterized by specific patterns of aplasia/hypoplasia of humeri, femora, spine in newborns. [-]
atransferrinemia	familial hypotransferrinemia	A metal metabolism disorder that is characterized ..[+] A metal metabolism disorder that is characterized by transferrin deficiency, microcytic anemia, and iron loading, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the structural gene for transferrin (TF) on chromosome 3q22. [-]
atrioventricular septal defect	atrioventricular canal defect; AVCD; AVSD; ECD; en.. [+] AVSD; AVCD; atrioventricular canal defect; ECD; endocardial cushion defect [-]	A congenital heart septal defect characterized by ..[+] A congenital heart septal defect characterized by an abnormal or inadequate fusion of the superior and inferior endocardial cushions with the mid portion of the atrial septum and the muscular portion of the ventricular septum, thus allowing extra blood to circulate the lungs. [-]	1 articles
alcohol-related neurodevelopmental disorder	ARND; static encephalopathy	A fetal alcohol spectrum disorder that results in ..[+] A fetal alcohol spectrum disorder that results in central nervous system dysfunction and behavioral and/or cognitive deficits due to prenatal alcohol exposure. [-]
alcohol-related birth defects	ARBD	A fetal alcohol spectrum disorder that results in ..[+] A fetal alcohol spectrum disorder that results in damage to organs, bones, or muscles due to prenatal alcohol exposure. [-]	2 articles
ataxic cerebral palsy	hypotonic cerebral palsy	A cerebral palsy that is caused by damage to the c..[+] A cerebral palsy that is caused by damage to the cerebellum, which affects muscle coordination, particularly in the limb. Some individuals suffer from hypotonia, tremors, difficulty with visual and/or auditory processing. [-]
Athabaskan brainstem dysgenesis syndrome	NAVAJO BRAINSTEM SYNDROME	A brain disease that is characterized by brainstem..[+] A brain disease that is characterized by brainstem dysgenesis, has_material_basis_in homozygous mutations in the HOXA1 gene. [-]
anal canal cancer		A large intestine cancer that is located_in the te..[+] A large intestine cancer that is located_in the terminal part of the large intestine. [-]
adolescence-adult electroclinical syndrome		An electroclinical syndrome with onset in adolesce..[+] An electroclinical syndrome with onset in adolescence and adulthood. [-]
aceruloplasminemia		An iron metabolism disease that has_material_basis..[+] An iron metabolism disease that has_material_basis_in a mutation in the ceruloplasmin gene characterized by progressive neurodegeneration of the retina and basal ganglia and diabetes mellitus. [-]
AGAT deficiency	arginine glycine amidinotransferase deficiency; ar.. [+] arginine glycine amidinotransferase deficiency; arginine:glycine amidinotransferase deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 3; Cerebral creatine deficiency syndrome 3 [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in a mutation in the GATM gene resulting in deficiency of arginine:glycine amidinotransferase which then limits creatine synthesis. [-]
autosomal dominant disease		An autosomal genetic disease that is characterized..[+] An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease. [-]	143 articles	41 matches
autosomal recessive disease		An autosomal genetic disease that is characterized..[+] An autosomal genetic disease that is characterized by the presence of two mutated copies of the gene, both of which must be present in order for the disease or trait to develop. [-]	106 articles	93 matches
autosomal genetic disease		A monogenic disease that is has material basis in ..[+] A monogenic disease that is has material basis in a mutation in a single gene on one of the non-sex chromosomes. [-]	235 articles	134 matches
alcohol dependence	alcoholism	A substance dependence that is characterized by to..[+] A substance dependence that is characterized by tolerance, withdrawal symptoms, increasing use, persistent desire to decrease consumption, time spent obtaining or recovering from alcohol caused by a physical and psychological dependence on alcohol. [-]	2 articles
anaplastic large cell lymphoma		A non-Hodgkin lymphoma involving aberrant T-cells.	1 articles
amyotrophic lateral sclerosis type 8	ALS8; amyotrophic lateral sclerosis 8	An amyotrophic lateral sclerosis that has_material..[+] An amyotrophic lateral sclerosis that has_material_basis_in mutation in the VAPB gene on chromosome 20. [-]
ataxia with oculomotor apraxia type 1		An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by progressive cerebellar ataxia including oculomotor apraxia, severe neuropathy and hypoalbuminemia, has_material_basis_in autosomal recessive inheritance of mutation in the APTX gene. [-]
adenylosuccinase lyase deficiency		An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by microcephaly, aggressive behavior, cerebellar hypoplasia and seizures, has_material_basis_in autosomal recessive inheritance of mutation in the ADSL gene resulting in adenylosuccinate lyase deficiency. [-]
ARC syndrome	Arthrogryposis-renal dysfunction-cholestasis; ARTH.. [+] Arthrogryposis-renal dysfunction-cholestasis; ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome [-]	A syndrome that is characterized by congenital joi..[+] A syndrome that is characterized by congenital joint contractures, renal tubular dysfunction, cholestasis, severe failure to thrive, ichthyosis and a defect in platelet alpha-granule biogenesis and that has_material_basis_in homozygous or compound heterozygous mutation in the VPS33B gene or homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. [-]
Armfield syndrome	Armfield X-linked mental retardation syndrome; men.. [+] Armfield X-linked mental retardation syndrome; mental retardation syndrome, X-linked, Armfield type; MRXSA; syndromic X-linked mental retardation Armfield type; X-linked intellectual disability, Armfield type [-]	A syndromic X-linked intellectual disability chara..[+] A syndromic X-linked intellectual disability characterized by intellectual disability, short stature, seizures, and small hands and feet and in some cases cleft palate or cataracts/glaucoma that has_material_basis_in variation in the chromosomal region Xq28. [-]
achalasia microcephaly syndrome	ACHALASIA-MICROCEPHALY SYNDROME; Achalasia microce.. [+] ACHALASIA-MICROCEPHALY SYNDROME; Achalasia microcephaly [-]	A syndrome that is characterized by microcephaly, ..[+] A syndrome that is characterized by microcephaly, intellectual deficit and early onset symptoms of achalasia (abnormal enlargement of the esophagus, impaired peristalsis, cardiospasm, recurrent vomiting and respiratory infections). [-]
androgenic alopecia	androgenetic alopecia; alopecia androgenetica, mal.. [+] androgenetic alopecia; alopecia androgenetica, male pattern baldness [-]	An alopecia that is characterized by M-shaped hair..[+] An alopecia that is characterized by M-shaped hair line recession and thinning of hair at the crown of the head in males. [-]
atrioventricular block	AV block	A heart conduction disease that is characterized b..[+] A heart conduction disease that is characterized by the impairment of the conduction between the atria and ventricles of the heart. [-]	2 articles
artery disease		A vascular disease that is located_in an artery.	27 articles
anismus		n_a
arteritic anterior ischemic optic neuropathy		n_a
adrenal cortical adenoma	adrenocortical adenoma	An adrenal adenoma that is a benign tumor of the a..[+] An adrenal adenoma that is a benign tumor of the adrenal cortex. [-]
adrenal gland pheochromocytoma		An adrenal medulla cancer that is characterized by..[+] An adrenal medulla cancer that is characterized by overproduction of adrenaline. [-]	1 articles
ameloblastoma		A cell type benign neoplasm that has_material_basi..[+] A cell type benign neoplasm that has_material_basis_in odontogenic epithelium. [-]
appendix carcinoid tumor	appendix carcinoid endocrine tumour	An appendix cancer that has_material_basis_in neur..[+] An appendix cancer that has_material_basis_in neurodendocrine cells. [-]
autosomal dominant hypophosphatemic rickets		A rickets characterized by low levels of serum pho..[+] A rickets characterized by low levels of serum phosphate and elevated levels of ALP and phosphaturia and that has_material_basis_in autosomal dominant inheritance. [-]
autosomal recessive hypophosphatemic rickets		A rickets that has_material_basis_in autosomal rec..[+] A rickets that has_material_basis_in autosomal recessive inheritance mutation in the DMP1 gene and is characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth. [-]
autosomal recessive cerebellar ataxia		A cerebellar ataxia that has_material_basis_in aut..[+] A cerebellar ataxia that has_material_basis_in autosomal recessive inheritance. [-]	1 articles
autosomal dominant cerebellar ataxia, deafness and narcolepsy		n_a
autosomal recessive spinocerebellar ataxia 10	SCAR10	n_a
autoimmune disease of central nervous system		An autoimmune hypersensitivity disease located_in ..[+] An autoimmune hypersensitivity disease located_in the central nervous system. [-]	12 articles	4 matches
autoimmune disease of endocrine system		An autoimmune disease that is the abnormal functio..[+] An autoimmune disease that is the abnormal functioning of the immune system resulting in production of antibodies or T cells against cells and/or tissues in the endocrine system. [-]	2 articles
autoimmune disease of exocrine system		An autoimmune disease that is the abnormal functio..[+] An autoimmune disease that is the abnormal functioning of the immune system that causes your immune system to produce antibodies or T cells against cells and/or tissues in the exocrine system. [-]

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