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Disease	Synonyms	Description
2-hydroxyglutaric aciduria		An amino acid metabolic disorder that is an autoso..[+] An amino acid metabolic disorder that is an autosomal recessive neurometabolic disorder characterized by the significant elevation of urinary levels of hydroxyglutaric acid causing progressive brain damage. [-]
3-M syndrome	dolichospondylic dysplasia; gloomy face syndrome; .. [+] dolichospondylic dysplasia; gloomy face syndrome; Le Merrer syndrome; Miller-McKusick-Malvaux syndrome; three M syndrome; Yakut short stature syndrome; [-]	An autosomal recessive disease characterized by dw..[+] An autosomal recessive disease characterized by dwarfism, facial dysmorphia and skeletal abnormalities. [-]
3-Methylcrotonyl-CoA carboxylase deficiency	3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC .. [+] 3-Methylcrotonylglycinuria; 3MCC deficiency; BMCC deficiency; [-]	An amino acid metabolic disorder that has_material..[+] An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy. [-]
3-methylglutaconic aciduria		An organic acidemia that is characterized by eleva..[+] An organic acidemia that is characterized by elevated levels of 3-methylglutaconic acid and 3-methylglutaric acid in the urine. [-]
3-methylglutaconic aciduria type 1	3-methylglutaconic aciduria type I; 3-methylglutac.. [+] 3-methylglutaconic aciduria type I; 3-methylglutaconyl-CoA hydratase deficiency; 3MG-CoA hydratase deficiency; MGA type I; MGA1; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the AUH gene on chromosome 9q22. [-]
3-methylglutaconic aciduria type 3	3-methylglutaconic aciduria type III; autosomal re.. [+] 3-methylglutaconic aciduria type III; autosomal recessive optic atrophy plus syndrome; autosomal recessive optic atrophy type 3; Costeff optic atrophy syndrome; Costeff syndrome; infantile optic atrophy with chorea and spastic paraplegia; Iraqi-Jewish optic atrophy plus; MGA3; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in mutation in the OPA3 gene. [-]
3-methylglutaconic aciduria type 4	3-methylglutaconic aciduria type IV; MGA type IV; .. [+] 3-methylglutaconic aciduria type IV; MGA type IV; MGA4; MGCA4; [-]	A 3-methylglutaconic aciduria that is characterize..[+] A 3-methylglutaconic aciduria that is characterized by mild or intermittent urinary excretion of 3-methylglutaconic acid. [-]
3-methylglutaconic aciduria type 5	3-methylglutaconic aciduria type V; DCMA; DCMA syn.. [+] 3-methylglutaconic aciduria type V; DCMA; DCMA syndrome; dilated cardiomyopathy with ataxia; MGA5; MGCA5; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous mutation in the DNAJC19 gene on chromosome 3q26. [-]
3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia	3-methylglutaconic aciduria type 7; 3-methylglutac.. [+] 3-methylglutaconic aciduria type 7; 3-methylglutaconic aciduria type VII; MEGCANN; MGA7; MGCA7; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the CLPB gene on chromosome 11q13. [-]
3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome	3-methylglutaconic aciduria type 6; MEGDEL; MEGDEL.. [+] 3-methylglutaconic aciduria type 6; MEGDEL; MEGDEL syndrome; MGCA6; [-]	A 3-methylglutaconic aciduria that has_material_ba..[+] A 3-methylglutaconic aciduria that has_material_basis_in homozygous or compound heterozygous mutation in the SERAC1 gene on chromosome 6q25. [-]
3MC syndrome	craniofacial-ulnar-renal syndrome; oculopalatoskel.. [+] craniofacial-ulnar-renal syndrome; oculopalatoskeletal syndrome ; [-]	A syndrome characterized by blepharophimosis, blep..[+] A syndrome characterized by blepharophimosis, blepharoptosis, highly arched eyebrows hypertelorism, cleft lip and palate, postnatal growth deficiency, cognitive impairment, hearing loss and, in a smaller percentage of cases, craniosynostosis, radioulnar synostosis and genital and vesicorenal anomalies. It encompasses four disorders that were previously designated the Malpuech, Michels, Mingarelli and Carnevale syndromes. [-]
3MC syndrome 1		A 3MC syndrome that has_material_basis_in homozygo..[+] A 3MC syndrome that has_material_basis_in homozygous mutation in the MASP1 gene on chromosome 3q27. [-]
3MC syndrome 2		A 3MC syndrome that has_material_basis_in homozygo..[+] A 3MC syndrome that has_material_basis_in homozygous mutation in the COLEC11 gene on chromosome 2p25. [-]
3MC syndrome 3		A 3MC syndrome that has_material_basis_in a compou..[+] A 3MC syndrome that has_material_basis_in a compound heterozygous mutation in the COLEC10 gene on chromosome 8q24. [-]
3p- syndrome	chromosome 3pter-P25 deletion syndrome; distal mon.. [+] chromosome 3pter-P25 deletion syndrome; distal monosomy 3p; [-]	n_a
46 XX gonadal dysgenesis		A gonadal dysgenesis that is characterized by the ..[+] A gonadal dysgenesis that is characterized by the lack of functional ovaries to induce puberty in an otherwise 46,XX female. [-]
46 XY gonadal dysgenesis	46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY;.. [+] 46,XY SEX REVERSAL; Pure gonadal dysgenesis 46,XY; Swyer syndrome; [-]	A gonadal dysgenesis that is characterized by a no..[+] A gonadal dysgenesis that is characterized by a normal 46,XY karyotype along with a progressive loss of germ cells on the developing gonads of an embryo. [-]
ABCD syndrome	albinism, block lock, cell migration disorder of t.. [+] albinism, block lock, cell migration disorder of the neurocytes of the gut, and deafness; [-]	An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease that is characterized by albinism, black lock, cell migration disorder of the neurocytes of the gut and sensorineural deafness and has_material_basis_in a mutation in the endothelin B receptor gene (EDNRB). [-]
ACTH-secreting pituitary adenoma	ACTH-Producing Pituitary Adenoma; Corticotroph ade.. [+] ACTH-Producing Pituitary Adenoma; Corticotroph adenoma; Corticotropinoma; [-]	A functioning pituitary adenoma that characterized..[+] A functioning pituitary adenoma that characterized by excess cortisol a primary cause of Cushing's syndrome. [-]
ADULT syndrome	acro-dermato-ungual-lacrimal-tooth syndrome;	An autosomal dominant disease that is characterize..[+] An autosomal dominant disease that is characterized by light pigmentation with excessive freckling, sparse hair involving the scalp and axilla, lacrimal duct stenosis or atresia, onychodysplasia, hypodontia or early loss of permanent teeth, athelia or hypoplastic nipples, and breast hypoplasia, has_material_basis_in a mutation in TP63. [-]
AGAT deficiency	arginine:glycine amidinotransferase deficiency; CE.. [+] arginine:glycine amidinotransferase deficiency; 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. [-]
AIDS phobia		n_a
APP-related cerebral amyloid angiopathy	Amyloidosis, Cerebroarterial, App-Related; Amyloid.. [+] Amyloidosis, Cerebroarterial, App-Related; Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Arctic Variant; Cerebral Amyloid Angiopathy, App-Related, Dutch Variant; Cerebral Amyloid Angiopathy, App-Related, Flemish Variant; Cerebral Amyloid Angiopathy, App-Related, Iowa Variant; Cerebral Amyloid Angiopathy, App-Related, Italian Variant; HCHWAD; [-]	A cerebral amyloid angiopathy that has_material_ba..[+] A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3. [-]
ARC syndrome	Arthrogryposis, renal dysfunction and cholestasis .. [+] Arthrogryposis, renal dysfunction and cholestasis (ARC) syndrome; ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS; Arthrogryposis-renal dysfunction-cholestasis; [-]	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. It has material basis in homozygous or compound heterozygous mutation in the VPS33B gene or has masterial basis in homozygous or compound heterozygous mutation in the VIPAR gene on chromosome 14q24.3. [-]
Aagenaes syndrome	Cholestasis-edema syndrome, Norwegian type (disord.. [+] Cholestasis-edema syndrome, Norwegian type (disorder); [-]	A syndrome that is characterized by congenital hyp..[+] A syndrome that is characterized by congenital hypoplasia of lymph vessels, which causes lymphedema of the legs and recurrent cholestasis in infancy, and slow progress to hepatic cirrhosis and giant cell hepatitis with fibrosis of the portal tracts. [-]
Aarskog syndrome	Aarskog-Scott syndrome; faciogenital dysplasia; Gr.. [+] Aarskog-Scott syndrome; faciogenital dysplasia; Greig's syndrome; [-]	A monogenic disease affects a person's height, mus..[+] A monogenic disease affects a person's height, muscles, skeleton, genitals, and appearance of the face. [-]
Achard syndrome		A syndrome that involves arachnodactyly, receding ..[+] A syndrome that involves arachnodactyly, receding lower jaw, and joint laxity limited to the hands and feet. [-]
Achenbach syndrome	Paroxysmal hematoma of the finger (disorder);	n_a
Achilles bursitis	Achilles bursitis or tendinitis; Capped hock; Hagl.. [+] Achilles bursitis or tendinitis; Capped hock; Haglund's deformity; Haglund's disease; [-]	n_a
Adams-Oliver syndrome	Adams Oliver syndrome;	A syndrome characterized by defects of the scalp (..[+] A syndrome characterized by defects of the scalp (aplasia cutis congenita), abnormalities of the fingers, toes, arms and legs. [-]
Addison's disease	Addison disease; Addison disease, chronic adrenal .. [+] Addison disease; Addison disease, chronic adrenal insufficiency; HYPOADRENOCORTICISM, FAMILIAL; primary adrenocortical insufficiency; primary hypoadrenalism; [-]	An adrenal cortical hypofunction that is character..[+] 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 pupil syndrome; A.. [+] Adie's pupil or syndrome; Adie's pupil syndrome; Adie's syndrome; Holmes-Adie syndrome; [-]	A syndrome that is a neurological disorder affecti..[+] 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 i..[+] 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 predispositio..[+] 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 ti.. [+] Rickettsia africae spotted fever; south african tick-bite fever; [-]	A spotted fever that has_material_basis_in Rickett..[+] 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 und..[+] 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;	An autosomal recessive disease that is a genetical..[+] An autosomal recessive disease that is a genetically heterogeneous encephalopathy characterized in its most severe form by cerebral atrophy, leukodystrophy, intracranial calcifications, chronic cerebrospinal fluid (CSF) lymphocytosis, increased CSF alpha-interferon, and negative serologic investigations for common prenatal infections. [-]
Alagille syndrome	Alagille-Watson syndrome; Arteriohepatic dysplasia.. [+] Alagille-Watson syndrome; Arteriohepatic dysplasia (disorder); [-]	A liver disease that is characterized by an accumu..[+] 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 O.. [+] Forsius-Eriksson syndrome; FORSIUS-ERIKSSON TYPE OCULAR ALBINISM; [-]	n_a
Albright's hereditary osteodystrophy	Albright hereditary osteodystrophy; pseudohypopara.. [+] Albright hereditary osteodystrophy; pseudohypoparathyroidism type 1a; [-]	An osteochondrodysplasia that has_material_basis_i..[+] 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 dest..[+] 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 f..[+] 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. [-]
Allan-Herndon-Dudley syndrome	ALLAN-HERNDON SYNDROME;	An X-linked disease that has material basis in mut..[+] An X-linked disease 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 syndrome	Alper's syndrome; ALPERS PROGRESSIVE INFANTILE POL.. [+] Alper's syndrome; ALPERS PROGRESSIVE INFANTILE POLIODYSTROPHY; Alpers' disease or gray-matter degeneration; ALPERS-HUTTENLOCHER SYNDROME; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A; progressive sclerosing poliodystrophy; [-]	A cerebral degeneration that results in progressiv..[+] A cerebral degeneration that results in progressive degeneration of grey matter in the cerebrum and has_symptom convulsions. [-]
Alport syndrome	Hereditary Nephritis;	A monogenic disease that is characterized by glome..[+] A monogenic disease that is characterized by glomerulonephritis, endstage kidney disease, and hearing loss. [-]
Alstrom syndrome		An autosomal recessive disease that is characteriz..[+] An autosomal recessive disease 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; Alzheimer disease, familial.. [+] AD; Alzheimer disease; Alzheimer disease, familial; Alzheimers dementia; [-]	A tauopathy that is characterized by memory lapses..[+] 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 fami.. [+] AD10; Alzheimer disease 10; Alzheimer disease familial 10; [-]	An Alzheimer's disease that is characterized by an..[+] 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..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 9p22.1. [-]
Alzheimer's disease 12	AD12; Alzheimer disease 12; Alzheimer disease fami.. [+] AD12; Alzheimer disease 12; Alzheimer disease familial 12; [-]	An Alzheimer's disease that is characterized by an..[+] An Alzheimer's disease that is characterized by an associated with variation in the region 8p12-q22. [-]

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