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Disease	Synonyms	Description	Articles	Phenotypes
carbapenem allergy		A drug allergy that has_allergic_trigger carbapene..[+] A drug allergy that has_allergic_trigger carbapenems. [-]
co-trimoxazole allergy	cotrimoxazol allergy; Bactrim allergy; TMP/SMX all.. [+] cotrimoxazol allergy; Bactrim allergy; TMP/SMX allergy; trimethoprim/sulfamethoxazole allergy [-]	A drug allergy that has_allergic_trigger co-trimox..[+] A drug allergy that has_allergic_trigger co-trimoxazole. [-]
Chlamydia pneumonia		A bacterial pneumonia has_material_basis_in Chlamy..[+] A bacterial pneumonia has_material_basis_in Chlamydia pneumoniae. [-]
chikungunya	Chikungunya fever	A viral infectious disease that results_in infecti..[+] A viral infectious disease that results_in infection located_in joint, has_material_basis_in Chikungunya virus, which is transmitted_by Aedes mosquito bite. The infection has_symptom fever, has_symptom arthralgia, and has_symptom maculopapular rash. [-]
cutaneous mycosis		A fungal infectious disease that results_in infect..[+] A fungal infectious disease that results_in infection of the keratinized layers located_in skin, located_in hair or located_in nail, which extends deeper into the epidermis, has_material_basis_in Fungi and results_in_formation_of skin lesions. [-]
cryptogenic organizing pneumonia	Cryptogenic organising pneumonitis; Cryptogenic or.. [+] Cryptogenic organising pneumonitis; Cryptogenic organizing pneumonitis; cryptogenic organising pneumonia; bronchiolitis obliterans organizing pneumonia; idiopathic bronchiolitis obliterans with organizing pneumonia; BOOP; bronchiolitis obliterans organising pneumonia; idiopathic bronchiolitis obliterans with organising pneumonia [-]	An idiopathic interstitial pneumonia characterized..[+] An idiopathic interstitial pneumonia characterized by lung inflammation and scarring that obstructs the small airways and air sacs of the lungs (alveoli). A flu-like illness, with a cough, fever, a feeling of illness (malaise), fatigue, and weight loss, heralds the onset in about 50% of people. Frequent presence of crackling sounds (called Velcro crackles) when the doctor listens with a stethoscope. [-]
cutaneous lupus erythematosus		A lupus erythematosus that causes skin lesions on ..[+] A lupus erythematosus that causes skin lesions on parts of the body that are exposed to sunlight. [-]
Chapare hemorrhagic fever		A viral infectious disease that is a hemorrhagic f..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Mammarenavirus chapareense. The infection has symptom headache, has symptom joint pain, has symptom muscle pain, has symptom vomiting, has symptom shock, and has symptom bleeding. [-]
coenurosis		A parasitic helminthiasis infectious disease that ..[+] A parasitic helminthiasis infectious disease that involves infection by metacestode larval stage (coenurus) of Taenia multiceps or Taenia serialis. Coenuri in the skin or subcutaneous tissue present as painless nodules, which manifest on the trunk, sclera, subconjuctiva, neck, shoulders, head and limbs. Coenuri in the central nervous system may cause headache, fever, vomiting, nerve palsies, jacksonian epilepsy, pachymeningitis, obstructive or communicating hydrocephalus, and intracranial arteritis with transient hemiparesis. Coenuri in the eye cause both intraocular and orbital infections. [-]
conidiobolomycosis		An subcutaneous mycosis that is a chronic inflamma..[+] An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions. [-]
congenital hypothyroidism	cretinism	A hypothyroidism that is present at birth.	1 articles	3 matches
commensal bacterial infectious disease		A bacterial infectious disease that results_in inf..[+] A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder. [-]	1 articles
Carrion's disease	Carrion disease; Oroya fever	A bartonellosis that results_in infection located_..[+] A bartonellosis that results_in infection located_in endothelial cells or located_in red blood cells, has_material_basis_in Bartonella bacilliformis, which is transmitted_by sandflies of genus Lutzomyia. The infection has acute and chronic phases. The acute phase is characterized by severe hemolytic anemia and transient immunosuppression. The chronic phase is characterized by verruga peruana lesions which may ulcerate and bleed. [-]
complement factor I deficiency	COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY; C3 .. [+] COMPLEMENT COMPONENT 3 INACTIVATOR DEFICIENCY; C3 INACTIVATOR DEFICIENCY [-]	n_a
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
Costello syndrome	Faciocutaneoskeletal Syndrome; FCS SYNDROME	A RASopathy characterized by craniofacial dysmorph..[+] A RASopathy characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays. [-]	1 articles
Carney complex	Carney Complex, Type 1; Carney complex variant; Ca.. [+] Carney complex variant; Carney Complex, Type 1; Carney Syndrome; Carney Complex, Type 2; NAME Syndrome; LAMB Syndrome [-]	A syndrome characterized by myxomas, spotty pigmen..[+] A syndrome characterized by myxomas, spotty pigmentation of the skin and endocrine overactivity. [-]
congenital stationary night blindness	congenital essential nyctalopia	A hereditary night blindness that is characterized..[+] A hereditary night blindness that is characterized by hemeralopia with a moderate loss of visual acuity and caused by defective photoreceptor-to-bipolar cell signaling with common ERG findings of reduced or absent b-waves and generally normal a-waves. [-]
Charcot-Marie-Tooth disease type 1	hereditary motor and sensory neuropathy type 1	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelination of the peripheral nerve axons. [-]	1 articles
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy Guadalajar.. [+] hereditary motor and sensory neuropathy Guadalajara neuronal type; hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy Okinawa type [-]	A Charcot-Marie-Tooth disease characterized by abn..[+] A Charcot-Marie-Tooth disease characterized by abnormalities in the axon of the peripheral nerve cell. [-]	1 articles
Charcot-Marie-Tooth disease type 3	DEJERINE-SOTTAS SYNDROME; DEJERINE-SOTTAS NEUROPAT.. [+] DEJERINE-SOTTAS SYNDROME; DEJERINE-SOTTAS NEUROPATHY [-]	n_a
Charcot-Marie-Tooth disease type 4	hereditary motor and sensory neuropathy	A Charcot-Marie-Tooth disease characterized by dem..[+] A Charcot-Marie-Tooth disease characterized by demyelinating or axonal abnormalities that has_material_basis_in autosomal recessive inheritance. [-]
Charcot-Marie-Tooth disease type X	COWCK; Cowchock syndrome	A Charcot-Marie-Tooth disease that has_material_ba..[+] A Charcot-Marie-Tooth disease that has_material_basis_in X-linked inheritance of a point mutation in the connexin-32 gene. [-]	1 articles
Charcot-Marie-Tooth disease intermediate type	Charcot-Marie-Tooth disease dominant intermediate; .. [+] Charcot-Marie-Tooth disease dominant intermediate; Charcot-Marie-Tooth disease recessive intermediate [-]	A Charcot-Marie-Tooth disease characterized by mot..[+] A Charcot-Marie-Tooth disease characterized by motor conduction velocities above and below 38 m/s. [-]
congenital adrenal insufficiency	ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX .. [+] ADRENAL INSUFFICIENCY, CONGENITAL, WITH 46,XY SEX REVERSAL, PARTIAL OR COMPLETE; P450scc DEFICIENCY; Adrenal insufficiency, congenital, with 46,XY sex reversal [-]	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. [-]
congenital muscular dystrophy		A muscular dystrophy that is characterized by dimi..[+] A muscular dystrophy that is characterized by diminished muscle tone (hypotonia), progressive muscle weakness and degeneration (atrophy), abnormally fixed joints, spinal rigidity, and delays in reaching motor milestones such as sitting or standing unassisted. [-]	1 articles
congenital disorder of glycosylation type I	ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG2-CDG (C.. [+] ALG1-CDG (CDG-1k); ALG11-CDG (CDG-1p); ALG2-CDG (CDG-1i); ALG3-CDG (CDG-1d); ALG6-CDG (CDG-1c); ALG8-CDG (CDG-1h); ALG9-CDG (CDG-1l); 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); ALG12-CDG (CDG-1g); DOLK-CDG (CDG-1m); MPI-CDG (CDG-1b) [-]	A congenital disorder of glycosylation involve dis..[+] A congenital disorder of glycosylation involve disrupted synthesis of the lipid-linked oligosaccharide precursor. [-]
congenital disorder of glycosylation type II	B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-CDG.. [+] B4GALT1-CDG (CDG-2d); MOGS-CDG (CDG-2b); MGAT2-CDG (CDG-2a) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. [-]
cone-rod dystrophy	cone-rod retinal dystrophy	A retinal degeneration that characterized by progr..[+] A retinal degeneration that characterized by progressive deterioration of the cone and rod photoreceptor cells. [-]	1 articles
cranioectodermal dysplasia	cranioectodermal dysplasia; Levin syndrome; Sensen.. [+] cranioectodermal dysplasia; Levin syndrome; Sensenbrenner syndrome [-]	A syndrome that is characterized by characterized ..[+] A syndrome that is characterized by characterized by sagittal craniosynostosis and facial, ectodermal, and skeletal anomalies. [-]	1 articles
congenital generalized lipodystrophy	Beradinelli-Seip syndrome	A lipodystrophy that is characterized by extreme s..[+] A lipodystrophy that is characterized by extreme scarcity of subcutaneous fat, muscular hypertrophy, fatty liver, hypertriglyceremia and metabolic complications including insulin resistance. [-]
congenital bile acid synthesis defect	cholestasis with delta(4)-3-oxosteroid-5-beta-redu.. [+] cholestasis with delta(4)-3-oxosteroid-5-beta-reductase deficiency; CBA; 3-beta-hydroxy-delta-5-C27-steroid oxidoreductase deficiency [-]	A steroid inherited metabolic disorder characteriz..[+] A steroid inherited metabolic disorder characterized by abnormal conversion of cholesterol into bile acids which occurs predominantly in the liver. [-]
cell type cancer		A cancer that is classified by the type of cell fr..[+] A cancer that is classified by the type of cell from which it is derived. [-]	29 articles	30 matches
chorioamnionitis		A placenta disease that is an inflammation of the ..[+] A placenta disease that is an inflammation of the fetal membranes (amnion and chorion) due to a bacterial infection. [-]
cardiomyopathy	Cardiomyopathies	A heart disease and a myopathy that is characteriz..[+] A heart disease and a myopathy that is characterized by deterioration of the function of the heart muscle. [-]	45 articles
childhood electroclinical syndrome		An electroclinical syndrome with onset in childhoo..[+] An electroclinical syndrome with onset in childhood between one and 12 years of age. [-]	5 articles
COX deficiency, infantile mitochondrial myopathy	cardioencephalomyopathy, fatal infantile, due to c.. [+] cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency; fatal infantile cytochrome C oxidase deficiency; fatal infantile encephalocardiomyopathy; fatal infantile COX deficiency; fatal infantile cardioencephalomyopathy due to cytochrome c oxidase deficiency [-]	A cytochrome-c oxidase deficiency disease characte..[+] A cytochrome-c oxidase deficiency disease characterized by myotonia, abnormalities of the heart and kidneys, and lactic acidosis. [-]
cerebral folate receptor alpha deficiency	Neurodegeneration due to cerebral folate transport.. [+] Neurodegeneration due to cerebral folate transport deficiency [-]	A vitamin metabolic disorder that has_material_bas..[+] A vitamin metabolic disorder that has_material_basis_in mutations in the folate receptor 1 (FOLR1) gene coding for folate receptor alpha (FRalpha), is located_in the brain and is characterized by progressive movement disturbance, psychomotor decline, and epilepsy. [-]
Chanarin-Dorfman syndrome	Chanarin-Dorfman syndrome; neutral lipid storage d.. [+] Chanarin-Dorfman syndrome; neutral lipid storage disease [-]	A lipid storage disease that is characterized by a..[+] A lipid storage disease that is characterized by accumulation of triglycerides in the cytoplasm of leukocytes, muscle, liver, fibroblasts, and other tissues. [-]
coenzyme Q10 deficiency disease	COENZYME Q10 DEFICIENCY, PRIMARY	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by a deficiency of CoQ10 resulting from reduced biosynthesis. [-]
congenital intrinsic factor deficiency	hereditary intrinsic factor deficiency	A vitamin B12 deficiency that is characterized by ..[+] A vitamin B12 deficiency that is characterized by megaloblastic anemia due to the absence of gastric intrinsic factor which results in abnormal vitamin B12 absorption. [-]
cerebellar ataxia		A cerebellar disease characterized by ataxia origi..[+] A cerebellar disease characterized by ataxia originating in the cerebellum. [-]	5 articles
choreaacanthocytosis	choreoacanthocytosis; choreo-acanthocytosis; Levin.. [+] choreo-acanthocytosis; choreoacanthocytosis; Levine-Critchley syndrome [-]	A neuroacanthocytosis characterized by progressive..[+] A neuroacanthocytosis characterized by progressive neurodegeneration and red cell acanthocytosis, with onset in the third to fifth decade of life and has_material_basis_in homozygous or compound heterozygous mutation in the VPS13A gene, which encodes chorein, on chromosome 9q21. [-]
cone dystrophy	retinal cone dystrophy	A retinal disease that is characterized by the los..[+] A retinal disease that is characterized by the loss of cone cells, the photoreceptors responsible for both central and color vision. [-]	1 articles
cerebral creatine deficiency syndrome		An amino acid metabolic disorder that is character..[+] An amino acid metabolic disorder that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the creatine transporter gene on chromosome Xq28. [-]	1 articles
cerebral creatine deficiency syndrome 1	creatine transporter deficiency; CEREBRAL CREATINE.. [+] creatine transporter deficiency; CEREBRAL CREATINE DEFICIENCY SYNDROME 1; SLC6A8 deficiency [-]	A cerebral creatine deficiency syndrome that is ch..[+] A cerebral creatine deficiency syndrome that is characterized by mental retardation, severe speech delay, behavioral abnormalities and seizures, has_material_basis_in mutation in the SLC6A8 gene on chromosome Xq28. [-]	1 articles
congenital adrenal hyperplasia	congenital lipoid adrenal hyperplasia; adrenal hyp.. [+] congenital lipoid adrenal hyperplasia; adrenal hyperplasia 1; 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 androgeny manifestations resulting from steroidogenic enzyme deficiency. [-]
CHARGE syndrome	CHARGE association	A syndrome that is characterized by a pattern of c..[+] A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina. [-]	11 articles
cervical dystonia	spasmodic torticollis	A focal dystonia that is characterized by simultan..[+] A focal dystonia that is characterized by simultaneous contraction of the agonist and antagonist muscles that control the position of the head contracting during dystonic movement which causes the neck to involuntarily turn to the left, right, upwards, and/or downwards. [-]
cranio-facial dystonia		A focal dystonia that is characterized as dystonia..[+] A focal dystonia that is characterized as dystonia that affects the muscles of the head, face, and neck. [-]	1 articles

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