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

Results 51 - 100 of 9429 results

Page(s): Prev 1 2 3 4 5 6 7 8 9 10 11 12 Next

Disease	Synonyms	Description
Acinetobacter infectious disease		An opportunistic bacterial infectious disease that has_mater..[+] An opportunistic bacterial infectious disease that has_material_basis_in Acinetobacter. [-]
Adams-Oliver syndrome	Adams Oliver syndrome;	A syndrome characterized by defects of the scalp (aplasia cu..[+] A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [-]
Addison's disease	Addison disease, chronic adrenal insufficiency; HYPOADRENOCO.. [+] Addison disease, chronic adrenal insufficiency; HYPOADRENOCORTICISM, FAMILIAL; primary adrenocortical insufficiency; primary hypoadrenalism; Addison disease; [-]	An adrenal cortical hypofunction that is characterized by in..[+] An adrenal cortical hypofunction that is characterized by insufficient steroid hormone production by the adrenal glands. [-]
Adie syndrome	Adie's pupil or syndrome; Adie's syndrome; Holmes-Adie syndr.. [+] Adie's pupil or syndrome; Adie's syndrome; Holmes-Adie syndrome; Adie's pupil syndrome; [-]	A syndrome that is a neurological disorder affecting the pup..[+] A syndrome that is a neurological disorder affecting the pupil of the eye and the autonomic nervous system. It is characterized by one eye with a pupil that is larger than normal and constricts slowly in bright light (tonic pupil), along with the absence of deep tendon reflexes, usually in the Achilles tendon. [-]
African histoplasmosis		A histoplasmosis that results_in systemic fungal infection, ..[+] A histoplasmosis that results_in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var duboisii, transmitted_by airborne spores and results_in_formation_of nodules, results_in_formation_of ulcers and results_in_formation_of osteolytic bone lesions. [-]
African iron overload	Bantu siderosis; iron overload in Africa;	A hemochromatosis characterized by a predisposition to iron ..[+] A hemochromatosis characterized by a predisposition to iron loading that is exacerbated by excessive intake of dietary iron, commonly related to consumption of tradition beer brewed in non-galvanized steel drums. [-]
African tick-bite fever	Rickettsia africae spotted fever; south african tick-bite fe.. [+] Rickettsia africae spotted fever; south african tick-bite fever; [-]	A spotted fever that has_material_basis_in Rickettsia africa..[+] A spotted fever that has_material_basis_in Rickettsia africae, which is transmitted_by ticks (Amblyomma hebraeum and Amblyomma variegatum). The infection has_symptom fever, has_symptom eschar and has_symptom maculopapular rash. [-]
Aicardi syndrome		A syndrome that is characterized by absence or underdevelope..[+] A syndrome that is characterized by absence or underdeveloped tissue connecting the left and right halves of the brain, infantile spasms and chorioretinal lacunae, which are defects in the light-sensitive tissue at the back of the eye. [-]
Aicardi-Goutieres syndrome	Cree encephalitis;	A syndrome that is a genetically heterogeneous encephalopath..[+] 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. [-]
Alagille syndrome	Alagille-Watson syndrome; Arteriohepatic dysplasia (disorder.. [+] Alagille-Watson syndrome; Arteriohepatic dysplasia (disorder); Arteriohepatic dysplasia; [-]	A liver disease that is characterized by an accumulation of ..[+] A liver disease that is characterized by an accumulation of bile in the liver resulting from a reducted number of liver small bile ducts. [-]
Aland Island eye disease	Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBI.. [+] Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; [-]	n_a
Albright's hereditary osteodystrophy	Albright hereditary osteodystrophy; pseudohypoparathyroidism.. [+] Albright hereditary osteodystrophy; pseudohypoparathyroidism type 1a; [-]	An osteochondrodysplasia that has_material_basis_in lack of ..[+] An osteochondrodysplasia that has_material_basis_in lack of responsiveness to parathyroid hormone which results_in shortening and widening of long bones of the located_in hand or located_in foot along with short stature, obesity, and rounded face. [-]
Alexander disease	Alexander's disease;	A leukodystrophy that is characterized by the destruction of..[+] A leukodystrophy that is characterized by the destruction of white matter and the formation of Rosenthal fibers consisting of abnormal clumps of protein that accumulate in astrocytes. [-]
Alkhurma hemorrhagic fever		A viral infectious disease that is a hemorrhagic fever, has_..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Alkhurma hemorrhagic fever virus, which is transmitted_by Ornithodoros savignyi tick bite, transmitted_by ingestion of unpasteurized camel milk, or transmitted_by entry via skin wound. The infection has_symptom headache, has_symptom joint pain, has_symptom muscle pain, has_symptom vomiting, has_symptom thrombocytopenia, and has_symptom hemorrhagic fever. [-]
Alkuraya-Kucinskas syndrome	ALKKUCS;	A syndrome characterized by arthrogryposis, cerebral parench..[+] A syndrome characterized by arthrogryposis, cerebral parenchymal underdevelopment, clubfoot, and global developmental delay with severe cases being incompatible with life that has_material_basis_in homozygous or compound heterozygous mutation in KIAA1109 on chromosome 4q27. [-]
Allan-Herndon-Dudley syndrome	ALLAN-HERNDON SYNDROME; AHDS;	A syndrome that has_material_basis_in mutation at is in the ..[+] 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. [-]
Alpers-Huttenlocher syndrome	Alper's syndrome; Alpers disease; Alpers progressive infanti.. [+] Alper's syndrome; Alpers disease; Alpers progressive infantile poliodystrophy; Alpers syndrome; Alpers-Huttenlocher syndrome; Alpers' disease or gray-matter degeneration; Diffuse Cerebral Sclerosis of Schilder; mitochondrial DNA depletion syndrome 4a; progressive sclerosing poliodystrophy; [-]	A mitochondrial DNA depletion syndrome that is characterized..[+] A mitochondrial DNA depletion syndrome that is characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children, and has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the nuclear gene encoding mitochondrial DNA polymerase gamma on chromosome 15q26. [-]
Alport syndrome	Hereditary Nephritis;	A syndrome disease that is characterized by glomerulonephrit..[+] A syndrome disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. [-]
Alstrom syndrome		A syndrome that is characterized by multiorgan dysfunction. ..[+] A syndrome that is characterized by multiorgan dysfunction. The key features are childhood obesity, blindness due to congenital retinal dystrophy, and sensorineural hearing loss with autosomal recessive inheritance and has_material_basis_in mutations in the ALMS1 gene. [-]
Alzheimer's disease	AD; Alzheimer disease, familial; Alzheimers dementia; Alzhei.. [+] AD; Alzheimer disease, familial; Alzheimers dementia; Alzheimer disease; [-]	A tauopathy that is characterized by memory lapses, confusio..[+] A tauopathy that is characterized by memory lapses, confusion, emotional instability and progressive loss of mental ability and results in progressive memory loss, impaired thinking, disorientation, and changes in personality and mood starting and leads in advanced cases to a profound decline in cognitive and physical functioning and is marked histologically by the degeneration of brain neurons especially in the cerebral cortex and by the presence of neurofibrillary tangles and plaques containing beta-amyloid. [-]
Alzheimer's disease 10	AD10; Alzheimer disease 10; Alzheimer disease familial 10;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 7q36. [-]
Alzheimer's disease 11	AD11; Alzheimer disease 11;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. [-]
Alzheimer's disease 12	Alzheimer disease 12; Alzheimer disease familial 12; AD12;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. [-]
Alzheimer's disease 13	Alzheimer disease 13; AD13;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 1q21. [-]
Alzheimer's disease 14	AD14; Alzheimer disease 14;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 1q25. [-]
Alzheimer's disease 15	AD15; Alzheimer disease 15;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variations in the region 3q22-q24. [-]
Alzheimer's disease 16	AD16;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with a risk allele in in the PCDH11X gene on chromosome Xq21.3. [-]
Alzheimer's disease 17	AD17; Alzheimer disease 17; Alzheimer disease 17, late onset.. [+] AD17; Alzheimer disease 17; Alzheimer disease 17, late onset; [-]	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with mutations in the gene TREM2. [-]
Alzheimer's disease 18	AD18; Alzheimer disease 18;	An Alzheimer's disease that has_material_basis_in a mutation..[+] An Alzheimer's disease that has_material_basis_in a mutation in the ADAM10 gene on chromosome 15q21. [-]
Alzheimer's disease 19	Alzheimer disease 19; Alzheimer disease 19 late onset; AD19;.. [+] Alzheimer disease 19; Alzheimer disease 19 late onset; AD19; [-]	An Alzheimer's disease that is characterized by associated v..[+] An Alzheimer's disease that is characterized by associated variants of the gene PLD3. [-]
Alzheimer's disease 2	Alzheimer disease 2, late onset; Alzheimer disease associate.. [+] Alzheimer disease 2, late onset; Alzheimer disease associated with APOE4; Alzheimer disease-2; AD2; [-]	An Alzheimer's disease that is characterized by an associati..[+] An Alzheimer's disease that is characterized by an association of the apolipoprotein E E4 allele. [-]
Alzheimer's disease 3	AD3; Alzheimer disease 3; Alzheimer disease familial 3; Alzh.. [+] AD3; Alzheimer disease 3; Alzheimer disease familial 3; Alzheimer disease 3, early onset; [-]	An Alzheimer's disease that has_material_basis_in mutation i..[+] An Alzheimer's disease that has_material_basis_in mutation in the presenilin-1 gene (PSEN1) on chromosome 14q24. [-]
Alzheimer's disease 4	AD4; Alzheimer disease, familial4; Alzheimer disease 4;	An Alzheimer's disease that has_material_basis_in a mutation..[+] An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42. [-]
Alzheimer's disease 5	AD5; Alzheimer disease 5; Alzheimer disease, familial 5;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 12p11.23-q13.12. [-]
Alzheimer's disease 6	AD6; Alzheimer disease 6; Alzheimer disease 6, late onset;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 10q24. [-]
Alzheimer's disease 7	AD7; Alzheimer disease 7; Alzheimer disease, familial 7;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 10p13. [-]
Alzheimer's disease 8	AD8; Alzheimer disease 8; Alzheimer disease, familial 8;	An Alzheimer's disease that is characterized by an associate..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 20p12.2-q11.21. [-]
Ambras type hypertrichosis universalis congenita	Ambras syndrome; HTC1;	A hypertrichosis characterized by autosomal dominant inherit..[+] A hypertrichosis characterized by autosomal dominant inheritance of the presence of vellus-type hair on the entire body, especially on the face, ears and shoulders, with the exception of palms, soles, and mucous membranes that has material_basis_in chromosomal abnormalities in the region 8q22. [-]
American histoplasmosis		A histoplasmosis that results in systemic fungal infection, ..[+] A histoplasmosis that results in systemic fungal infection, has_material_basis_in Histoplasma capsulatum var capsulatum, transmitted by airborne spores and has symptom nonproductive cough, has symptom headache, has symptom loss of appetite and has symptom muscle pains. [-]
Andersen-Tawil syndrome	ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS; Long QT .. [+] ANDERSEN CARDIODYSRHYTHMIC PERIODIC PARALYSIS; ATS; Long QT syndrome 7; LQT7; Andersen syndrome ; Potassium-Sensitive Cardiodysrhythmic Type; [-]	A long QT syndrome that has_material_basis_in autosomal domi..[+] A long QT syndrome that has_material_basis_in autosomal dominant inheritance of a mutation in the KCNJ2 gene which disrupts the rhythm of the heart's lower chambers (ventricular arrhythmia) and results_in an unusually small lower jaw (micrognathia), low-set ears, and an abnormal curvature of the fingers called clinodactyly. [-]
Angelman syndrome	puppetlike syndrome; happy puppet syndrome;	A syndrome that is characterized by delayed development, int..[+] A syndrome that is characterized by delayed development, intellectual disability, severe speech impairment, and problems with movement and balance. [-]
Angelucci's syndrome	acute atopic conjunctivitis; Angelucci syndrome;	n_a
Antley-Bixler syndrome	trapezoidocephaly-synostosis syndrome;	A syndrome that is characterized at birth or prenatally by m..[+] A syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. [-]
Arenaviridae infectious disease		A viral infectious disease that results_in infection in rode..[+] A viral infectious disease that results_in infection in rodents and humans, has_material_basis_in Arenaviridae viruses. [-]
Argentine hemorrhagic fever		A viral infectious disease that is a hemorrhagic fever, has_..[+] A viral infectious disease that is a hemorrhagic fever, has_material_basis_in Junin virus, which is transmitted_by rodent, Calomys musculinus. The infection has_symptom fever, has_symptom fatigue, has_symptom malaise, has_symptom leukopenia, has_symptom thrombocytopenia, and has_symptom hemorrhagic manifestations. [-]
Argyll Robertson pupil	Argyll Robertson phenomenon or pupil, nonsyphilitic; Argyll .. [+] Argyll Robertson phenomenon or pupil, nonsyphilitic; Argyll Robertson pupil, atypical; Atypical Argyll-Robertson pupil; [-]	An abnormal pupillary function characterized by a small pupi..[+] An abnormal pupillary function characterized by a small pupil, the absence of a pupillary light reflex and the retention of a normal pupillary near response. [-]
Armfield syndrome	Armfield X-linked mental retardation syndrome; mental retard.. [+] 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 characterized b..[+] 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. [-]
Arts syndrome	ARTS; fatal X-linked ataxia with deafness and loss of vision.. [+] 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 profound congen..[+] 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. [-]
Askin's tumor	Askin tumor; Askin tumour; Askin's tumour;	An Ewing sarcoma that arises from the soft tissues of the ch..[+] An Ewing sarcoma that arises from the soft tissues of the chest wall that tend to recur locally and not widely disseminated. [-]
Asperger syndrome		An autism spectrum disorder that is characterized by signifi..[+] An autism spectrum disorder that is characterized by significant difficulties in social interaction, along with restricted and repetitive patterns of behavior and interests. It differs from other autism spectrum disorders by its relative preservation of linguistic and cognitive development. [-]

Page(s): Prev 1 2 3 4 5 6 7 8 9 10 11 12 Next