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??? 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 ???pagination.result.next???

Disease	Synonyms	Description	Articles	Phenotypes
fibrodysplasia ossificans progressiva	myositis ossificans progressiva; progressive myosi.. [+] myositis ossificans progressiva; progressive myositis ossificans; Stone Man Syndrome; progressive ossifying myositis [-]	A connective tissue disease that is characterized ..[+] A connective tissue disease that is characterized by progressive ossification of skeletal muscle, fascia, tendons, and ligaments and has_material_basis_in heterozygous mutation in the ACVR1 gene. [-]
Kawasaki disease	MLNS; mucocutaneous lymph node syndrome; acute feb.. [+] mucocutaneous lymph node syndrome; MLNS; acute febrile mucocutaneous lymph node syndrome [MCLS]; Kawasaki's disease; acute febrile mucocutaneous lymph node syndrome; acute febrile MCLS [-]	A lymphadenitis characterized by swelling of cervi..[+] A lymphadenitis characterized by swelling of cervical lymph nodes in infants and young children and inflammation of medium-sized blood vessels located_in body, has_symptom fever, has_symptom congestion of ocular conjunctivae, has_symptom reddening of lips, has_symptom reddening of oral cavity, has_symptom protuberance of tongue papillae and has_symptom edema of extremities. [-]
supraglottis cancer	malignant tumor of supraglottis; malignant tumor o.. [+] malignant tumor of supraglottis; malignant tumor of supraglottis (disorder); malignant Supraglottic tumor; malignant neoplasm of supraglottis; malignant neoplasm of extrinsic larynx; Ca larynx - supraglottis (disorder); supraglottis; Ca larynx - supraglottis [-]	n_a
jejunal cancer	malignant tumor of jejunum; malignant tumor of jej.. [+] malignant tumor of jejunum; malignant tumor of jejunum (disorder); malignant neoplasm of jejunum [-]	n_a
osteopetrosis	marble bone; Albers-Schonberg disease	An osteosclerosis that has_material_basis_in lack ..[+] An osteosclerosis that has_material_basis_in lack of bone resorption which results_in abnormally hard and brittle bones. [-]	2 articles
dental fluorosis	Mottled teeth; Mottling of enamel; Intrinsic ename.. [+] Mottling of enamel; Mottled teeth; Intrinsic enamel discolouration of fluorosis [-]	A tooth disease characterized by enamel discolorat..[+] A tooth disease characterized by enamel discoloration resulting from excess fluoride ingestion during tooth formation. [-]
female breast central part cancer	malignant neoplasm of central part of female breas.. [+] malignant neoplasm of central part of female breast; malignant neoplasm of central part of female breast (disorder); malignant neoplasm of central portion of female breast [-]	A female breast cancer that is located_in the cent..[+] A female breast cancer that is located_in the center of the breast. [-]
familial combined hyperlipidemia	mixed hyperlipidaemia; mixed hyperlipidemia (disor.. [+] mixed hyperlipidaemia; mixed hyperlipidemia (disorder); mixed hyperlipidemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); hyperbetalipoproteinemia with prebetalipoproteinemia; familial multiple lipoprotein-type hyperlipidemia; type IIb hyperlipoproteinemia [-]	n_a
achromatopsia	Monochromatism; ACHM	A color blindness that is characterized by a conge..[+] A color blindness that is characterized by a congenital cone color vision disorder, the inability to perceive color and to achieve satisfactory visual acuity at high light levels has_material_basis_in autosomal recessive inheritance. [-]	3 articles
female breast lower-outer quadrant cancer	malignant neoplasm of lower-outer quadrant of fema.. [+] malignant neoplasm of lower-outer quadrant of female breast; malignant neoplasm of lower-outer quadrant of female breast (disorder) [-]	A female breast cancer that is located_in the lowe..[+] A female breast cancer that is located_in the lower-outer qudrant of the breast. [-]
cleidocranial dysplasia	Marie-Sainton Disease; cleidocranial dysostosis	An osteochondrodysplasia that has_material_basis_i..[+] An osteochondrodysplasia that has_material_basis_in mutations in the RUNX2 gene which results_in undeveloped or absent located_in clavicle along with delayed closing of fontanels in the located_in skull. [-]
paraurethral gland cancer	malignant tumor of the Paraurethral gland; maligna.. [+] malignant tumor of the Paraurethral gland; malignant tumor of paraurethral gland; malignant tumor of paraurethral gland (disorder) [-]	A female reproductive organ cancer that is located..[+] A female reproductive organ cancer that is located_in the paraurethral glands. [-]
Plasmodium falciparum malaria	malignant tertian fever; Malaria fever, subtertian.. [+] malignant tertian fever; Malaria fever, subtertian; malignant tertian fever (finding); Falciparum Malaria; Falciparum malaria (disorder); Falciparum malaria [malignant tertian]; Plasmodium falciparum malaria, unspecified; Plasmodium falciparum malaria, unspecified (disorder); falciparum malaria; Falciparum malaria [-]	A malaria described as a severe form of the diseas..[+] A malaria described as a severe form of the disease caused by a parasite Plasmodium falciparum, which is marked by irrregular recurrence of paroxysms and prolonged or continuous fever. [-]	4 articles
blackwater fever	Malarial Hemoglobinuria; Black water fever (disord.. [+] Malarial Hemoglobinuria; Black water fever (disorder); Black water fever; Hemoglobinuric, malaria; Blackwater fever [-]	A malaria that presents as a rare febrile complica..[+] A malaria that presents as a rare febrile complication of repeated malarial attacks characterized by intravascular haemolysis, haemoglobinuria and kidney failure, resulting from destruction of red blood cells caused by heavy parasitization with Plasmodium falciparum or Plasmodium vivax. [-]
cerebral malaria	Malarial encephalitis	A malaria that involves neurologic damage resultin..[+] A malaria that involves neurologic damage resulting from blockage of the blood vessels, caused due to the infection of the red blood cells by Plasmodium species. [-]
epicondylitis	medial epicondylitis; andrel epicondylitis; archer.. [+] medial epicondylitis; andrel epicondylitis; archer's elbow; golfer's elbow; hockey elbow; shooter's elbow; Lateral epicondylitis; tennis elbow [-]	A bone inflammation disease that results_in inflam..[+] A bone inflammation disease that results_in inflammation located_in epicondyle. [-]
boutonneuse fever	Mediterranean tick fever; marseilles fever; Medite.. [+] marseilles fever; Mediterranean tick fever; Mediterranean spotted fever; african tick typhus; African tick typhus (disorder); Boutonneuse disease; Kenya fever; kenya tick typhus; South African tick-bite fever (disorder); African tick typhus; South African tick-bite fever; Rickettsia conorii spotted fever; Conor and Bruch's disease; Kenyan tick typhus [-]	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia conorii subsp conorii, which is transmitted_by dog tick (Rhipicephalus sanguineus). The infection has_symptom fever, has_symptom eschar (usually single), has_symptom regional adenopathy, has_symptom maculopapular rash on extremities. [-]
anus cancer	malignant anal tumor; anal cancer	A large intestine cancer that is located_in the an..[+] A large intestine cancer that is located_in the anus. [-]
familial lipoprotein lipase deficiency	mixed hyperglyceridemia; familial hyperchylomicron.. [+] mixed hyperglyceridemia; familial hyperchylomicronemia (disorder); familial hyperlipoproteinemia type I; familial lipoprotein lipase deficiency (disorder) [Ambiguous]; familial lipoprotein lipase deficiency with type I phenotype; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; hypercholesterinaemic xanthomatosis; hyperchylomicronemia; familial chylomiconemia syndrome; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia; familial chylomicronemia syndrome [-]	A familial hyperlipemia characterized by a deficie..[+] A familial hyperlipemia characterized by a deficiency of the enzyme lipoprotein lipase and the subsequent build up of chylomicrons and increased plasma concentration of triglycerides. [-]
spinal cord melanoma	melanoma of the Spinal Cord	n_a
abdominal obesity-metabolic syndrome 1	metabolic syndrome X; dysmetabolic syndrome X; abd.. [+] metabolic syndrome X; dysmetabolic syndrome X; abdominal obesity-metabolic syndrome 1 [-]	An abdominal obesity-metabolic syndrome characteri..[+] An abdominal obesity-metabolic syndrome characterized by insulin resistance and hyperinsulinemia, dyslipidemia, essential hypertension, abdominal obesity, glucose intolerance or noninsulin-dependent diabetes mellitus and an increased risk of cardiovascular events. [-]
fragile X syndrome	MARTIN-BELL SYNDROME; MARKER X SYNDROME; FRAGILE X.. [+] MARKER X SYNDROME; MARTIN-BELL SYNDROME; FRAGILE X MENTAL RETARDATION SYNDROME [-]	A syndrome that is characterized by moderate to se..[+] A syndrome that is characterized by moderate to severe mental retardation, macroorchidism, and distinct facial features, including long face, large ears, and prominent jaw, and has_material_basis_in X-linked inheritance and a loss of FMR1 function. [-]	4 articles
Noonan syndrome with multiple lentigines	Multiple lentigines syndrome; Multiple lentigines .. [+] Multiple lentigines syndrome; Multiple lentigines syndrome (disorder); Moynahan syndrome; Generalized lentiginosis (disorder); Gorlin syndrome II; Lentiginosis profusa syndrome; LEOPARD syndrome; Cardiocutaneous syndrome; Capute-Rimoin-Konigsmark-Esterly-Richardson syndrome; Noonan syndrome with multiple lentigines; Generalized lentiginosis; Progressive cardiomyopathic lentiginosis [-]	A RASopathy that is characterized by autosomal dom..[+] A RASopathy that is characterized by autosomal dominant inheritance of brown skin spots called lentigines that are similar to freckles, heart defects, widely spaced eyes a sunken chest or protruding chest and short stature. [-]	1 articles
Plasmodium malariae malaria	Malaria by Plasmodium malariae; Quartan Malaria	A malaria caused by a parasite Plasmodium malariae..[+] A malaria caused by a parasite Plasmodium malariae, which is marked by recurrence of paroxysms at 72-hour intervals. [-]
parietal lobe neoplasm	malignant neoplasm of parietal lobe; tumor of Pari.. [+] malignant neoplasm of parietal lobe; tumor of Parietal Lobe [-]	A cerebrum cancer that is located_in the parietal ..[+] A cerebrum cancer that is located_in the parietal lobe. [-]
sphenoidal sinus cancer	malignant tumor of sphenoid sinus; malignant tumor.. [+] malignant tumor of sphenoid sinus; malignant tumor of Sphenoidal sinus; malignant tumor of sphenoid sinus (disorder) [-]	n_a
disease of metabolism	metabolic disease	A disease that involving errors in metabolic proce..[+] A disease that involving errors in metabolic processes of building or degradation of molecules. [-]	74 articles
branchiootorenal syndrome	Melnick-Fraser syndrome; Melnick-Fraser syndrome (.. [+] Melnick-Fraser syndrome; Melnick-Fraser syndrome (disorder); branchiootorenal dysplasia; Branchio-otorenal dysplasia; Branchio-Oto-renal syndrome [-]	A syndrome characterized by branchial arch anomali..[+] A syndrome characterized by branchial arch anomalies (branchial fistulas, clefts, or cysts), hearing impairment, structural defects of the outer, middle, and inner ear, and renal abnormalities. [-]	12 articles	35 matches
centronuclear myopathy	myotubular myopathy	A congenital structural myopathy characterized by ..[+] A congenital structural myopathy characterized by abnormally located nuclei in skeletal muscle cells. The nuclei are located in the center of the cell, instead of their normal location at the periphery. [-]
beta-ketothiolase deficiency	Mitochondrial acetoacetyl-CoA Thiolase deficiency; .. [+] Mitochondrial acetoacetyl-CoA Thiolase deficiency; 2-methyl-3-hydroxybutyricacidemia; 3-ketothiolase deficiency; 3-oxothiolase deficiency; alpha-methylacetoaceticaciduria; peroxisomal thiolase deficiency (disorder); peroxisomal thiolase deficiency [-]	An amino acid metabolic disorder characterized by ..[+] An amino acid metabolic disorder characterized by inability to process isoleucine and ketones, has_symptom recurrent ketoacidotic attacks in infancy marked by vomitting, lethargy, dehydration, and seizures, and has_material_basis_in mutation in the ACAT1 gene of chromosome 11q22.3 responsible for producing the ACAT1 enzyme in mitochondria, which processes isoleucine and ketones. [-]
calcaneonavicular coalition	Multiple synostosis syndrome; Multiple synostosis .. [+] Multiple synostosis syndrome; Multiple synostosis syndrome (disorder); SYNOSTOSES, TARSAL, CARPAL AND DIGITAL [-]	A synostosis characterized by the fusion of carpal..[+] A synostosis characterized by the fusion of carpal and tarsal bones, which causes stiffness and immobility of the hands and the feet. [-]
cartilage-hair hypoplasia	Metaphyseal chondrodysplasia, McKusick type; McKus.. [+] Metaphyseal chondrodysplasia, McKusick type; McKusick type metaphyseal chondrodysplasia; CHH [-]	An ectodermal dysplasia characterized by short-lim..[+] An ectodermal dysplasia characterized by short-limbed short stature and fine, sparse hair that has_material_basis_in homozygous or compound heterozygous mutation in the RMRP gene on chromosome 9p13.3. [-]
D-mannitol allergy	mannitol allergy	A drug allergy that has_allergic_trigger D-mannito..[+] A drug allergy that has_allergic_trigger D-mannitol. [-]
Rickettsia parkeri spotted fever	maculatum infection	A spotted fever that has_material_basis_in Rickett..[+] A spotted fever that has_material_basis_in Rickettsia parkeri, which is transmitted_by Gulf Coast tick (Amblyomma maculatum). The infection has_symptom fever, has_symptom headache, has_symptom eschar, and has_symptom rash. [-]
Buruli ulcer disease	Mossman ulcer; Bairnsdale ulcer; Daintree ulcer; S.. [+] Mossman ulcer; Bairnsdale ulcer; Daintree ulcer; Searle's ulcer; Searl ulcer [-]	A primary bacterial infectious disease that result..[+] A primary bacterial infectious disease that results_in infection located_in skin or located_in subcutaneous tissue, has_material_basis_in Mycobacterium ulcerans, which could be transmitted_by insects. The bacterium produces a toxin, named mycolactone, which causes subcutaneous fat necrosis and inhibits an immune response. The infection has_symptom nodule, which is a painless, mobile swelling in the skin. [-]
Weill-Marchesani syndrome	Marchesani-Weill Syndrome; Mesodermal Dysmorphodys.. [+] Marchesani-Weill Syndrome; Mesodermal Dysmorphodystrophy, Congenital; congenital mesodermal dystrophy; GEMSS syndrome; Spherophakia Brachymorphia Syndrome [-]	A syndrome characterized by short stature, brachyc..[+] A syndrome characterized by short stature, brachycephaly and other facial abnormalities, brachydactyly, joint stiffness and distinctive ocular abnormalities. [-]
Barth syndrome	MGA type II; MGA Type 2; 3-methylglutaconicaciduri.. [+] MGA Type 2; MGA type II; 3-methylglutaconicaciduria type 2; 3-methylglutaconicaciduria type II [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in X-linked inheritance of the tafazzin gene and is characterized by decreased production of an enzyme required to produce cardiolipin. [-]
endemic typhus	murine typhus; cat flea rickettsiosis; fleaborne t.. [+] murine typhus; cat flea rickettsiosis; fleaborne typhus; Rat-Flea Typhus; Rickettsia felis spotted fever; Shop typhus; toulon typhus; urban typhus; Urban Typhus of Malaya [-]	A typhus that has_material_basis_in Rickettsia typ..[+] A typhus that has_material_basis_in Rickettsia typhi or has_material_basis_in Rickettsia felis, which are transmitted by fleas (Xenopsylla cheopis). The infection has symptom headache, has symptom fever, has symptom chills, has symptom myalgia, has symptom nausea, has symptom vomiting, has symptom cough and has symptom rash. [-]
Gamstorp-Wohlfart syndrome	myokymia, myotonia and muscle wasting; autosomal r.. [+] myokymia, myotonia and muscle wasting; autosomal recessive neuromyotonia and axonal neuropathy [-]	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
intermediate spinal muscular atrophy	MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; MUSCU.. [+] MUSCULAR ATROPHY, SPINAL, INTERMEDIATE TYPE; MUSCULAR ATROPHY, SPINAL, INFANTILE CHRONIC FORM; SMA II; spinal muscular atrophy 2; spinal muscular atrophy type II; SMA2 [-]	A childhood spinal muscular atrophy that is charac..[+] A childhood spinal muscular atrophy that is characterized by progressive muscular weakness and respiratory failure, develops in children between the ages of 6 and 12 months and drastically reduces length of life, and has_material_basis_in mutations in the SMN1 or SMN2 genes that are required for the survival of motor neurons. [-]
Seckel syndrome	microcephalic primordial dwarfism; Harper's syndro.. [+] microcephalic primordial dwarfism; Harper's syndrome; bird-headed dwarfism; Virchow-Seckel dwarfism [-]	A syndrome characterized by intrauterine growth re..[+] A syndrome characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]	2 articles
congenital disorder of glycosylation type I	MPDU1-CDG (CDG-1f); MPI-CDG (CDG-1b); ALG1-CDG (CD.. [+] MPI-CDG (CDG-1b); MPDU1-CDG (CDG-1f); 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); PMM2-CDG (CDG-1a); RFT1-CDG (CDG-1n); SRD5A3-CDG (CDG-1q); ALG12-CDG (CDG-1g); DOLK-CDG (CDG-1m) [-]	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	MOGS-CDG (CDG-2b); MGAT2-CDG (CDG-2a); B4GALT1-CDG.. [+] MGAT2-CDG (CDG-2a); MOGS-CDG (CDG-2b); B4GALT1-CDG (CDG-2d) [-]	A congenital disorder of glycosylation that involv..[+] A congenital disorder of glycosylation that involves malfunctioning trimming or processing of the protein-bound oligosaccharide chain. [-]
hereditary lymphedema	Milroy's disease; Nonne-Milroy lymphedema	A lymphedema commonly located_in legs, caused_by c..[+] A lymphedema commonly located_in legs, caused_by congenital abnormalities in the lymphatic system. [-]	1 articles
paranasal sinus cancer	Mucoepidermoid carcinoma of Accessory sinus; adeno.. [+] Mucoepidermoid carcinoma of Accessory sinus; adenoid cystic carcinoma of Accessory sinus; Epidermoid carcinoma of the paranasal sinus; paranasal sinus adenocarcinoma; paranasal sinus squamous cell carcinoma; squamous cell carcinoma of paranasal sinus; paranasal sinus mucoepidermoid carcinoma; adenoid cystic carcinoma of paranasal sinus; 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. [-]
gastrointestinal neuroendocrine tumor	malignant gastrointestinal neuroendocrine tumour; .. [+] malignant gastrointestinal neuroendocrine tumour; malignant gastrointestinal neuroendocrine tumor; gastrointestinal neuroendocrine tumour [-]	A gastrointestinal system cancer that has_material..[+] A gastrointestinal system cancer that has_material_basis_in neuroendocrine cells. [-]
Arts syndrome	MRXSARTS; MRXS18; ARTS; fatal X-linked ataxia with.. [+] MRXS18; MRXSARTS; ARTS; fatal X-linked ataxia with deafness and loss of vision; syndromic X-linked mental retardation 18; syndromic X-linked mental retardation Arts type; Lethal ataxia with deafness and optic atrophy [-]	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. [-]
pseudo-TORCH syndrome 1	microcephaly-intracranial calcification-intellectu.. [+] microcephaly-intracranial calcification-intellectual disability syndrome; band-like calcification with simplified gyration and polymicrogyria; Baraitser-Brett-Piesowicz syndrome; Baraitser-Reardon syndrome; bilateral band-like calcification with polymicrogyria; BLC-PMG; BLCPMG; PTORCH1 [-]	A syndrome that is characterized by congenital mic..[+] A syndrome that is characterized by congenital microcephaly, intracranial calcifications, severe developmental delay, simplified gyration and polymicrogyria that has_material_basis_in homozygous or compound heterozygous mutation in the OCLN gene on chromosome 5q13.2. [-]
Borjeson-Forssman-Lehmann syndrome	MRXSBFL; mental retardation, epilepsy, and endocri.. [+] MRXSBFL; mental retardation, epilepsy, and endocrine disorder; BORJ; Borjeson syndrome; syndromic X-linked mental retardation Borjeson-Forssman-Lehmann type; BFLS; intellectual deficiency-epilepsy-endocrine disorders syndrome [-]	An X-linked disease that is characterized by intel..[+] An X-linked disease that is characterized by intellectual disability, truncal obesity, seizures, hypogonadism, developmental delay, distinctive facial features, tapered fingers and short toes and has_material_basis_in X-linked recessive inheritance of mutations in the PHF6 gene. [-]
deafness-dystonia-optic neuronopathy syndrome	Mohr-Tranebjaerg syndrome; Mohr-Tranebjaerg Syndro.. [+] Mohr-Tranebjaerg syndrome; Mohr-Tranebjaerg Syndrome; Deafness Dystonia Optic Atrophy Syndrome; Dystonia Deafness Syndrome; Deafness Dystonia Optic Neuronopathy Syndrome (DDON); Deafness Dystonia Optic Neuronopathy Syndrome; deafness dystonia syndrome; Jensen syndrome [-]	A mitochondrial metabolism disease that is charact..[+] A mitochondrial metabolism disease that is characterized by hearing loss that begins early in life, problems with movement, impaired vision, and behavior problems, and has_material_basis_in mutations in the TIMM8A gene resulting in abnormal protein transport within the mitochondria. [-]

???pagination.result.page??? ???pagination.result.prev??? 15 16 17 18 19 20 21 22 23 24 25 26 27 28 29 30 31 32 33 ???pagination.result.next???