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??? 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 ???pagination.result.next???

Disease	Synonyms	Description	Articles
adenoid hypertrophy	adenoidal hypertrophy; enlarged adenoids	An upper respiratory tract disease characterized b..[+] An upper respiratory tract disease characterized by the unusual growth of the adenoid tonsil; has symptom snoring, has symptom hyponasality, has symptom otitis media with effusion, has symptom mouth breathing. [-]
angular cheilitis	angular cheilosis; angular stomatitis; commissural.. [+] angular stomatitis; angular cheilosis; commissural cheilitis; cheilosis [-]	A cheilitis characterized by inflammation of one o..[+] A cheilitis characterized by inflammation of one or both of the corners of the mouth. [-]
acute promyelocytic leukemia	acute myeloid leukemia M3; acute promyelocytic leu.. [+] acute myeloid leukemia M3; acute promyelocytic leukaemia; acute myeloid leukaemia M3; acute myeloblastic leukaemia type 3; acute myeloblastic leukemia type 3; APL [-]	An acute myeloid leukemia characterized by accumul..[+] An acute myeloid leukemia characterized by accumulation of promyelocytes in the bone marrow and by a translocation between chromosomes 15 and 17. [-]
anal fistula		An anus disease characterized by is an abnormal co..[+] An anus disease characterized by is an abnormal connection between the epithelialised surface of the anal canal and the perianal skin. [-]	1 articles
autosomal dominant sideroblastic anemia		A sideroblastic anemia characterized by an autosom..[+] A sideroblastic anemia characterized by an autosomal dominant inheritance pattern. [-]
agnathia-otocephaly complex	agnathia-holoprosencephaly-situs inversus syndrome.. [+] agnathia-holoprosencephaly-situs inversus syndrome; dysgnathia complex agnathia-holoprosencephaly; holoprosencephaly-agnathia; otocephaly [-]	A physical disorder characterized by mandibular hy..[+] A physical disorder characterized by mandibular hypoplasia or agnathia, ventromedial auricular malposition (melotia) and/or auricular fusion (synotia), and microstomia with oroglossal hypoplasia or aglossia. Holoprosencephaly is the most commonly identified association, but skeletal, genitourinary and cardiovascular anomalies and situs inversus have been reported. [-]
acromelic frontonasal dysostosis		A dysostosis characterized by cranium bifidum, sev..[+] A dysostosis characterized by cranium bifidum, severe hypertelorism, median cleft lip and palate, nasal bifurcation, brachycephaly, large fontanelle, tibial hemimelia, preaxial polydactyly of the feet and brain malformations. [-]
acrodermatitis chronica atrophicans	Herxheimer disease; primary diffuse atrophy	An acrodermatitis characterized by a chronically p..[+] An acrodermatitis characterized by a chronically progressive course, leading to widespread atrophy of the skin. It is a clinical manifestation of Lyme borreliosis. [-]
acrorenal syndrome		A syndrome characterized by limb defects, usually ..[+] A syndrome characterized by limb defects, usually bilateral, like cleft hands or feet and longitudinal defects involving radius or ulna, tibia or fibula and renal anomalies which include agenesis, hypoplasia and rarely polycystic kidneys. Additional malformations may involve the oro-mandibular region, the trachea and lungs, skin derivatives including sweat glands, mammary glands, the uterus, vas deferens, the nasal placodes and the eyes. [-]
adenine phosphoribosyltransferase deficiency	APRT deficiency; 2,8-dihydroxyadenine urolithiasis.. [+] APRT deficiency; 2,8-dihydroxyadenine urolithiasis [-]	A purine-pyrimidine metaobolic disorder characteri..[+] A purine-pyrimidine metaobolic disorder characterized by the formation 2,8-dihydroxyadenine stones and renal failure secondary to intratubular crystalline precipitation and has_material_basis_in homozygous or compound heterozygous mutation in the gene encoding adenine phosphoribosyltransferase (APRT) on chromosome 16q24. [-]
acrofacial dysostosis Cincinnati type		An acrofacial dysostosis characterized by a spectr..[+] An acrofacial dysostosis characterized by a spectrum of mandibulofacial dysostosis phenotypes, such as cleft palate, micrognathia, malar flattening, microcephaly and, in some cases, extrafacial skeletal defects. It is that has material basis in heterozygous mutation in the POLR1A gene on chromosome 2p11. [-]
amyotrophic lateral sclerosis type 22	amyotrophic lateral sclerosis 22; ALS 22; amyotroh.. [+] ALS 22; amyotrophic lateral sclerosis 22; amyotrohpic lateral sclerosis 22 with or without frontotemporal dementia [-]	An amyotrophic lateral sclerosis that has material..[+] An amyotrophic lateral sclerosis that has material basis in mutation in the TUBA4A gene on chromosome 2q35. [-]
autosomal dominant Parkinson disease 1		A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the alpha-synuclein (SNCA) gene on chromosome 4q22.1. [-]
autosomal recessive juvenile Parkinson disease 2		A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the parkin gene (PARK2) on chromosome 6q25.2-q27. [-]
autosomal recessive early-onset Parkinson disease 7		A Parkinson's disease that has_material_basis_in h..[+] A Parkinson's disease that has_material_basis_in homozygous or compound heterozygous mutation in the DJ1 gene on chromosome 1p36. [-]	1 articles
autosomal dominant Parkinson disease 8		A Parkinson's disease that has_material_basis_in h..[+] A Parkinson's disease that has_material_basis_in heterozygous mutation in the dardarin encoding gene (LRRK2) on chromosome 12q12. [-]	1 articles
autosomal recessive early-onset Parkinson disease 15	Parkinsonian-pyramidal syndrome; pallidopyramidal .. [+] Parkinsonian-pyramidal syndrome; pallidopyramidal syndrome [-]	A Parkinson's disease that has_material_basis_in m..[+] A Parkinson's disease that has_material_basis_in mutation in the FBXO7 gene on chromosome 22q12.3. [-]
acrofacial dysostosis		n_a	5 articles
acrofacial dysostosis Rodriguez type	acrofacial dysostosis, syndrome of Rodriguez	An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by CNS malformations, lung anomalies, congenital heart defects, dysmorphic facies and limb reduction, and has_material_basis_in autosomal recessive inheritance. [-]
acrofacial dysostosis, Catania type	Opitz Mollica Sorge syndrome; Opitz-Caltabiano syn.. [+] Opitz Mollica Sorge syndrome; Opitz-Caltabiano syndrome [-]	An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. [-]
acrofacial dysostosis, Patagonia type		An acrofacial dysostosis that is characterized by ..[+] An acrofacial dysostosis that is characterized by oligodontia, short stature, pili torti, syndactyly, vertebral abnormalities and cleft lip, and has_material_basis_in X-linked dominant inheritance. [-]
autoimmune neuropathy		An autoimmune disease of centreal nervous system c..[+] An autoimmune disease of centreal nervous system caused by an autoimmune response. [-]
apple allergy	Malus domestica fruit allergy	A fruit allergy triggered by Malus domestica plant..[+] A fruit allergy triggered by Malus domestica plant fruit food product. [-]
apricot allergy	Prunus armeniaca fruit allergy	A fruit allergy triggered by Prunus armeniaca plan..[+] A fruit allergy triggered by Prunus armeniaca plant fruit food product. [-]
Atlantic cod allergy	Gadus morhua fish allergy	A fish allergy triggered by Gadus morhua.
Atlantic salmon allergy	Salmo salar fish allergy	A fish allergy triggered by Salmo salar.
ablepharon macrostomia syndrome	poikiloderma with neutropenia, Clericuzio type	A syndrome characterized by ablepharon, macrostomi..[+] A syndrome characterized by ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, dry and coarse skin or redundant folds of skin, absent or sparse hair, genital malformations and developmental delay and that has_material_basis_in heterozygous mutation in the TWIST2 gene on chromosome 2q37. [-]
ataxia with oculomotor apraxia type 3	ataxia-oculomotor apraxia 3	An autosomal recessive cerebellar ataxia that is c..[+] An autosomal recessive cerebellar ataxia that is characterized by poor coordination and balance (ataxia) that worsen over time and that has_material_basis_in homozygous mutation in the PIK3R5 gene on chromosome 17p13. [-]
anomalous left coronary artery from the pulmonary artery	ALCAPA; Bland-White-Garland syndrome; White-Garlan.. [+] ALCAPA; Bland-White-Garland syndrome; White-Garland syndrome [-]	A coronary artery anomaly in which the left corona..[+] A coronary artery anomaly in which the left coronary artery (LCA) branches off the pulmonary artery instead of the aortic sinus. [-]
atypical chronic myeloid leukemia, BCR-ABL1 negative	atypical CML; atypical chronic myeloid leukaemia B.. [+] atypical CML; atypical chronic myeloid leukaemia BCR-ABL1 negative; atypical chronic myeloid leukaemia; atypical chronic myeloid leukemia BCR-ABL1 negative; aCML; subacute granulocytic leukemia; subacute myelogenous leukemia; subacute myeloid leukemia [-]	A myelodysplastic myeloproliferative neoplasm char..[+] A myelodysplastic myeloproliferative neoplasm characterized by the principal involvement of the neutrophil series with leukocytosis and multilineage dysplasia. The neoplastic cells do not have a Philadelphia chromosome or the BCR/ABL fusion gene. [-]
alpha-2-plasmin inhibitor deficiency	antiplasmin defiency; plasmin inhibitor deficiency.. [+] antiplasmin defiency; plasmin inhibitor deficiency [-]	A hemorrhagic disease that has_material_basis_in m..[+] A hemorrhagic disease that has_material_basis_in mutation in the PLI gene. It is characterized by a hemorrhagic tendency presenting from childhood with prolonged bleeding and ecchymoses following minor trauma and spontaneous bleeding episodes. [-]
alpha-methylacyl-CoA racemase deficiency	AMACR deficiency	A peroxisomal disease that has_material_basis in h..[+] A peroxisomal disease that has_material_basis in homozygous mutation in the AMACR gene on chromosome 5p13.2-q11.1. It is characterized by retinitis pigmentosa resulting in progressive visual failure, learning difficulties, a peripheral neuropathy, and hypogonadism. [-]
ankyloglossia	tongue-tie	A tongue disease characterized by an unusually sho..[+] A tongue disease characterized by an unusually short, thick lingual frenulum, a membrane connecting the underside of the tongue to the floor of the mouth. [-]
abdominal obesity-metabolic syndrome		A syndrome that is characterized by abdominal obes..[+] A syndrome that is characterized by abdominal obesity, blood lipid disorders, inflammation, insulin resistance or full-blown diabetes, and increased risk of developing cardiovascular disease. [-]
abdominal obesity-metabolic syndrome 3		An abdominal obesity-metabolic syndrome that has_m..[+] An abdominal obesity-metabolic syndrome that has_material_basis_in heterozygous mutation in the DYRK1B gene on chromosome 19q13. [-]
anterior segment dysgenesis	anterior segment developmental anomaly; sclerocorn.. [+] anterior segment developmental anomaly; sclerocornea with other ocular anomalies; corneal opacification and other ocular anomalies [-]	An eye disease that is characterized by iris hypop..[+] An eye disease that is characterized by iris hypoplasia, an enlarged or reduced corneal diameter, corneal vascularization and opacity, posterior embryotoxon, corectopia, polycoria, an abnormal iridocorneal angle, ectopia lentis, and anterior synechiae between the iris and posterior corneal surface and is located_in the anterior segment of the eye. [-]
autosomal recessive congenital ichthyosis	ARCI; lamellar ichthyosis; non bullous congenital .. [+] ARCI; lamellar ichthyosis; non bullous congenital ichthyosiform erythroderma [-]	An ichthyosis that is characterized by autosomal r..[+] An ichthyosis that is characterized by autosomal recessive inheritance and abnormal skin scaling over the whole body due to a defect in keratinization. [-]
autosomal recessive congenital ichthyosis 1	ARCI1; bathing suit ichthyosis	An autosomal recessive congenital ichthyosis that ..[+] An autosomal recessive congenital ichthyosis that is characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has_material_basis_in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2. [-]
anencephaly		A congenital nervous system abnormality characteri..[+] A congenital nervous system abnormality characterized by failure of the anterior neuropore to close resulting in partial or complete absence of the cranial vault accompanied by absence of overlying tissues, including the brain and cerebral hemispheres, skull and scalp. [-]	2 articles
autosomal dominant nocturnal frontal lobe epilepsy	ENFL	A frontal lobe epilepsy that is characterized by a..[+] A frontal lobe epilepsy that is characterized by autosomal dominant inheritance with childhood onset of clusters of brief nocturnal motor seizures with hyperkinetic or tonic manifestations. [-]	7 articles
autosomal dominant nocturnal frontal lobe epilepsy 1	ENFL1; nocturnal frontal lobe epilepsy 1	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA4 gene on chromosome 20q13. [-]	1 articles
autosomal dominant nocturnal frontal lobe epilepsy 2	ENFL2; nocturnal frontal lobe epilepsy 2	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in variation in the chromosome region 15q24. [-]	2 articles
autosomal dominant nocturnal frontal lobe epilepsy 3	ENFL3; nocturnal frontal lobe epilepsy 3	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNB2 gene on chromosome 1q21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 4	ENFL4; nocturnal frontal lobe epilepsy 4	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the CHRNA2 gene on chromosome 8p21. [-]
autosomal dominant nocturnal frontal lobe epilepsy 5	ENFL5; nocturnal frontal lobe epilepsy 5	An autosomal dominant nocturnal frontal lobe epile..[+] An autosomal dominant nocturnal frontal lobe epilepsy that has_material_basis_in heterozygous mutation in the KCNT1 gene on chromosome 9q34. [-]	1 articles
arteriovenous malformations of the brain	cerebral arteriovenous malformation; intracranial .. [+] cerebral arteriovenous malformation; intracranial arteriovenous malformation [-]	A central nervous system benign neoplasm that deri..[+] A central nervous system benign neoplasm that derives_from endothelial cells and that is located_in the brain. [-]
atrichia with papular lesions	APL; papular atrichia	An alopecia characterized by irreversible hair los..[+] An alopecia characterized by irreversible hair loss during the neonatal period on all hear-bearing areas of the body followed by development of papular lesions all over the body that has_material_basis_in mutations in the HR gene on chromosome 8p21.3. [-]
autosomal dominant auditory neuropathy 1	AUNA1; NSDAN; nonsyndromic dominant auditory neuro.. [+] AUNA1; NSDAN; nonsyndromic dominant auditory neuropathy [-]	An autosomal dominant nonsyndromic deafness charac..[+] An autosomal dominant nonsyndromic deafness characterized by preservation of outer hair cell function and abnormal or absent auditory brainstem responses that has_material_basis_in heterozygous mutation in the DIAPH3 gene on chromosome 13q. [-]
autosomal recessive congenital ichthyosis 2	ARCI2; BROCQ congenital ichthyosiform erythroderma.. [+] ARCI2; BROCQ congenital ichthyosiform erythroderma nonbullous form; nonbullous congenital ichthyosiform erythroderma 1; NCIE1 [-]	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by fine scales on the scalp, face, trunk and limbs, marked palmoplantar hyperlinearity, hyperkeratosis, acanthosis, mild hypergranulosis and thickened stratum corneum that has_material_basis_in homozygous or compound heterozygous mutation in the ALOX12B gene on chromosome 17p13. [-]
autosomal recessive congenital ichthyosis 3	ARCI3; lamellar ichthyosis 5	An autosomal recessive congenital ichthyosis chara..[+] An autosomal recessive congenital ichthyosis characterized by mild ichthyosis, fine scales on the scalp, face, trunk and limbs, dark brown adherent scales on the neck, elbow and knees, and hypohydrosis that has_material_basis_in homozygous or compound heterozygous mutation in the ALOXE3 gene on chromosome 17p13. [-]

???pagination.result.page??? ???pagination.result.prev??? 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 23 24 ???pagination.result.next???