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Disease	Synonyms	Description
Riley-Day syndrome	HSAN III; familial autonomic nervous dysfunction; .. [+] HSAN III; familial autonomic nervous dysfunction; familial dysautonomia [-]	n_a
bulimia nervosa	hyperorexia nervosa	An eating disorder characterized by the restrainin..[+] An eating disorder characterized by the restraining of food intake for a period of time followed by an over intake or binging period that results in feelings of guilt and low self-esteem. [-]
factor VIII deficiency	Hemophilia A; Congenital factor VIII disorder; Sub.. [+] Hemophilia A; Congenital factor VIII disorder; Subhemophilia [-]	An X-linked disease that has_material_basis_in Fac..[+] An X-linked disease that has_material_basis_in Factor VIII deficiency, which results in the formation of fibrin deficient clots which makes coagulation much more prolonged. The disease is inherited as an X-linked recessive trait. [-]
low compliance bladder	hypertonic bladder; hypertonicity of bladder; hype.. [+] hypertonicity of bladder; hypertonic bladder; hyperactivity of bladder; Low bladder compliance [-]	n_a
cascade stomach	Hourglass stricture or stenosis of stomach	n_a
Vogt-Koyanagi-Harada disease	Harada's disease; uveomeningoencephalitic syndrome.. [+] Harada's disease; uveomeningoencephalitic syndrome; Vogt-Koyanagi syndrome; Vogt-Koyanagi-Harada disease (disorder) [-]	A hypersensitivity reaction type II disease that i..[+] A hypersensitivity reaction type II disease that is caused by T helper cell mediated autoimmune attack of melanocytes resulting in inflammation of the inside of the eye, whitening of hair, skin pigment loss, and meningitis. [-]
secondary hyperparathyroidism of renal origin	hyperparathyroidism due to renal insufficiency; se.. [+] hyperparathyroidism due to renal insufficiency; secondary hyperparathyroidism (of renal origin) [-]	n_a
newborn respiratory distress syndrome	hyaline membrane disease; HMD - Hyaline membrane d.. [+] hyaline membrane disease; HMD - Hyaline membrane disease; Neonatal respiratory Distress syndrome; pulmonary hyaline membrane disease; pulmonary hypoperfusion syndrome of newborn; respiratory distress syndrome of newborn [-]	A respiratory failure that is characterized by def..[+] A respiratory failure that is characterized by deficiency of the surfactant coating the inner surface of the lungs, by failure of the lungs to expand and contract properly during breathing with resulting collapse, and by the accumulation of a protein-containing film lining the alveoli and their ducts. [-]
mucopolysaccharidosis II	Hunter syndrome; Hunter's syndrome; deficiency of .. [+] Hunter's syndrome; Hunter syndrome; deficiency of iduronate-2-sulphatase; MPS II - Hunter syndrome; Mucopolysaccharidosis, MPS-II (disorder) [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme iduronate sulfatase. [-]
mucopolysaccharidosis III	heparan sulfate sulfatase deficiency; MPS IIIA - S.. [+] heparan sulfate sulfatase deficiency; MPS IIIA - Sanfilippo syndrome A; MPS IIIB - Sanfilippo syndrome B; MPS IIIC - Sanfilippo syndrome C; MPS IIID - Sanfilippo syndrome D; mucopolysaccharidosis type IIIA; mucopolysaccharidosis type IIIB; Mucopolysaccharidosis, MPS-III; Mucopolysaccharidosis, MPS-III-B; N-acetyl-alpha-D-glucosaminidase deficiency; N-sulphoglucosamine sulphohydrolase deficiency; naglu deficiency; Sanfilippo syndrome A; Sanfilippo syndrome B; Sanfilippo's syndrome [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme resulting in incomplete breakdown of the heparan sulfate sugar chain. [-]
mucopolysaccharidosis I	Hurler syndrome; Hurler-Scheie syndrome; iduronida.. [+] Hurler-Scheie syndrome; Hurler syndrome; iduronidase deficiency disease; Lipochondrodystrophy; MPS I - Hurler syndrome; Mucopolysaccharidosis, MPS-I (disorder); Mucopolysaccharidosis, type 1 [-]	A mucopolysaccharidosis characterized by a deficie..[+] A mucopolysaccharidosis characterized by a deficiency of the lysosomal enzyme alpha-L-iduronidase. [-]
Achilles bursitis	Haglund's deformity; Haglund's disease; Achilles b.. [+] Haglund's disease; Haglund's deformity; Achilles bursitis or tendinitis; Capped hock [-]	n_a
choreatic disease	hereditary chorea; chorea	A movement disease characterized by brief, semi-di..[+] A movement disease characterized by brief, semi-directed, irregular movements that not repetitive or rhythmic, but appear to flow from one muscle to the next. [-]
Werdnig-Hoffmann disease	HMN (Hereditary motor Neuropathy) Proximal type I; .. [+] HMN (Hereditary motor Neuropathy) Proximal type I; hereditary motor neuropathy proximal type I; infantile muscular atrophy; progressive muscular atrophy of infancy; Werdnig-Hoffman disease; SMA1; Spinal muscular atrophy 1 [-]	A childhood spinal muscular atrophy that is a seve..[+] A childhood spinal muscular atrophy that is a severe form and is characterized by muscle weakness onset from birth to six months of age, the inability to sit unassisted. [-]
porphyria	Hematoporphyria; disorder of porphyrin and hem met.. [+] Hematoporphyria; disorder of porphyrin and hem metabolism; disorder of porphyrin metabolism; Porphyrinopathy [-]	An inherited metabolic disorder that involves cert..[+] An inherited metabolic disorder that involves certain enzymes in the heme bio-synthetic pathway resulting in the overproduction and accumulation of the porphyrins. [-]
temporal arteritis	Horton's disease; Giant cell Arteritis; Giant cell.. [+] Horton's disease; Giant cell Arteritis; Giant cell arteritis; giant cell arteritis; Giant cell arteritis (disorder); Giant cell arteritis NOS (disorder); Temporal arteritis (disorder) [-]	n_a
uveoparotid fever	Heerfordt's syndrome; Heerfordt's syndrome (disord.. [+] Heerfordt's syndrome; Heerfordt's syndrome (disorder); Uveoparotid fever [-]	A sarcoidosis that is characterized by unilateral ..[+] A sarcoidosis that is characterized by unilateral facial nerve palsy, parotid gland enlargement, anterior uveitis, and low grade fever, and develops_from a type IV hypersensitivity reaction with noncaseating granulomatous infiltration of especially the parotid glands which compresses the facial nerve. [-]
childhood disintegrative disease	Heller's syndrome; Disintegrative psychosis NOS (d.. [+] Heller's syndrome; Disintegrative psychosis NOS (disorder); Symbiotic psychosis [-]	A pervasive developmental disorder that is a rare ..[+] A pervasive developmental disorder that is a rare condition characterized by late onset (>3 years of age) of developmental delays in language, social function, and motor skills where children who have had previously normal development who then appear to regress. [-]
Addison's disease	HYPOADRENOCORTICISM, FAMILIAL; Addison disease; Ad.. [+] HYPOADRENOCORTICISM, FAMILIAL; Addison disease; Addison disease, chronic adrenal insufficiency; 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. [-]
familial combined hyperlipidemia	hyperbetalipoproteinemia with prebetalipoproteinem.. [+] hyperbetalipoproteinemia with prebetalipoproteinemia; familial combined hyperlipidemia (disorder); familial combined hyperlipidemia (disorder) [Ambiguous]; familial multiple lipoprotein-type hyperlipidemia (disorder); mixed hyperlipidaemia; mixed hyperlipidemia; mixed hyperlipidemia (disorder); type IIb hyperlipoproteinemia; familial multiple lipoprotein-type hyperlipidemia [-]	n_a
familial hypercholesterolemia	hyperbetalipoproteinemia; familial hyperbetalipopr.. [+] hyperbetalipoproteinemia; familial hyperbetalipoproteinaemia; familial hypercholesteremia; Fredrickson type IIa hyperlipoproteinemia; Fredrickson type IIa lipidaemia; type II hyperlipidemia [-]	A familial hyperlipidemia characterized by very hi..[+] A familial hyperlipidemia characterized by very high levels of low-density lipoprotein (LDL) and early cardiovascular disease. [-]
tetanic cataract	Hypocalcaemic cataract	n_a
CADASIL	hereditary multi-infarct dementia; cerebral autoso.. [+] hereditary multi-infarct dementia; cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy [-]	An autosomal dominant cerebrovascular disorder cha..[+] An autosomal dominant cerebrovascular disorder characterized by recurrent subcortical ischemic stroke and cognitive impairment. [-]
Morgagni cataract	hypermature cataract	n_a
blackwater fever	Hemoglobinuric, malaria; Black water fever (disord.. [+] Hemoglobinuric, malaria; Black water fever (disorder); Blackwater fever; Malarial Hemoglobinuria [-]	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. [-]
epicondylitis	hockey elbow; andrel epicondylitis; archer's elbow.. [+] hockey elbow; andrel epicondylitis; archer's elbow; golfer's elbow; Lateral epicondylitis; medial epicondylitis; shooter's elbow; tennis elbow [-]	A bone inflammation disease that results_in inflam..[+] A bone inflammation disease that results_in inflammation located_in epicondyle. [-]
familial lipoprotein lipase deficiency	hyperchylomicronemia; hypercholesterinaemic xantho.. [+] hyperchylomicronemia; hypercholesterinaemic xanthomatosis; familial hyperchylomicronemia (disorder); familial hyperlipoproteinemia type I; familial lipoprotein lipase deficiency (disorder) [Ambiguous]; familial lipoprotein lipase deficiency with type I phenotype; familial LPL deficiency; Fredrickson type I hyperlipoproteinemia (disorder); Fredrickson type I lipaemia; mixed hyperglyceridemia; familial chylomiconemia syndrome; Fredrickson type I hyperlipoproteinemia [-]	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. [-]
bilateral hyperactive labyrinth	hyperactive labyrinth, bilateral; hyperactive bila.. [+] hyperactive labyrinth, bilateral; hyperactive bilateral labyrinthine dysfunction (disorder); Bilateral hyperactive labyrinth (disorder) [-]	n_a
von Hippel-Lindau disease	Hippel Lindau syndrome; von Hippel-Lindau syndrome.. [+] Hippel Lindau syndrome; von Hippel-Lindau syndrome; Von Hippel-Lindau syndrome (disorder); Von Hippel-Lindau syndrome (VHL) [-]	n_a
estrogen excess	hyperestrogenism	n_a
neuronal ceroid lipofuscinosis	hereditary ceroid lipofuscinosis	n_a
Axenfeld-Rieger syndrome	Hagedoom syndrome; Anomaly, Rieger's; Axenfeld syn.. [+] Hagedoom syndrome; Anomaly, Rieger's; Axenfeld syndrome; RGS - Rieger syndrome; Rieger's anomaly [-]	An autosomal dominant disease characterized by abn..[+] An autosomal dominant disease characterized by abnormalities of the front part of the eye, the anterior segment. [-]
Clouston syndrome	Hidrotic ectodermal dysplasia syndrome (disorder); .. [+] Hidrotic ectodermal dysplasia syndrome (disorder); hidrotic ectodermal dysplasia; Clouston's hidrotic ectodermal dysplasia; Clouston's syndrome [-]	n_a
renal agenesis	hereditary urogenital adysplasia; hereditary renal.. [+] hereditary urogenital adysplasia; hereditary renal aplasia; renal adysplasia; renal aplasia [-]	A renal disease that is characterized by the failu..[+] A renal disease that is characterized by the failure of one or both kidneys to develop. [-]
polycystic echinococcosis	human polycystic hydatid disease; neotropical echi.. [+] human polycystic hydatid disease; neotropical echinococcosis [-]	An echinococcosis that is caused by the larvae of ..[+] An echinococcosis that is caused by the larvae of Echinococcus vogeli or Echinococcus oligarthrus, which infect the liver. [-]
X-linked dominant hypophosphatemic rickets	hypophosphatemic rickets X-linked dominant; Hypoph.. [+] hypophosphatemic rickets X-linked dominant; Hypophosphatemia, Vitamin D-Resistant Rickets; Rickets, Vitamin D-Resistant; Vitamin D-Resistant Rickets, X-Linked; X-linked hypophosphatemia [-]	A rickets has_material_basis_in X-linked mutations..[+] A rickets has_material_basis_in X-linked mutations in the PHEX gene that lead to increased circulating levels of FGF-23, a phosphate-regulating hormone (phosphatonin), that leads to reduced renal phosphate reabsorption and consequently abnormal bone mineralization. [-]
Gitelman syndrome	HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W.. [+] HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, WITH HYPOCALCIURIA [-]	n_a
nonphotosensitive trichothiodystrophy 4	HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYND.. [+] HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYNDROME; BIDS SYNDROME; BIDS syndrome; TTD4 [-]	A syndrome that is characterized by brittle hair, ..[+] A syndrome that is characterized by brittle hair, short stature, decreased fertility and cognitive impairment without photosensitivity has_material_basis_in mutations in the TTDN1 gene. [-]
SC phocomelia syndrome	Hypomelia Hypotrichosis Facial hemangioma syndrome.. [+] Hypomelia Hypotrichosis Facial hemangioma syndrome; SC PSEUDOTHALIDOMIDE SYNDROME [-]	n_a
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. [-]
Charcot-Marie-Tooth disease type 2	hereditary motor and sensory neuropathy type 2; he.. [+] hereditary motor and sensory neuropathy type 2; hereditary motor and sensory neuropathy Okinawa type; hereditary motor and sensory neuropathy Guadalajara neuronal 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. [-]
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. [-]
visceral heterotaxy	heterotaxia; situs ambiguus	A physical disorder characterized by the abnormal ..[+] A physical disorder characterized by the abnormal distribution of the major visceral organs within the chest and abdomen. [-]
Walker-Warburg syndrome	HARD syndrome; cerebroocular dysplasia-muscular dy.. [+] HARD syndrome; cerebroocular dysplasia-muscular dystrophy syndrome [-]	n_a
Seckel syndrome	Harper's syndrome; bird-headed dwarfism; microceph.. [+] Harper's syndrome; bird-headed dwarfism; microcephalic primordial dwarfism; Virchow-Seckel dwarfism [-]	An autosomal recessive disease characterized by in..[+] An autosomal recessive disease characterized by intrauterine growth retardation and postnatal dwarfism with microcephaly and intellectual disability. [-]
tooth agenesis	hypodontia; familial tooth agenesis; oligodontia; .. [+] hypodontia; familial tooth agenesis; oligodontia; selective tooth agenesis [-]	A tooth disease characterized by failure to develo..[+] A tooth disease characterized by failure to develop on or more missing teeth. [-]
acheiropody	Horn-Kolb Syndrome; Acheiropodia	n_a
acrokeratosis verruciformis	Hopf disease; Acrokeratosis verruciformis of Hopf; .. [+] Hopf disease; Acrokeratosis verruciformis of Hopf [-]	n_a
anonychia congenita	HYPONYCHIA CONGENITA	n_a
Bamforth-Lazarus syndrome	HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL.. [+] HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CLEFT PALATE [-]	A hypothyroidism that is characterized by thyroid ..[+] A hypothyroidism that is characterized by thyroid dysgenesis, cleft palate, spiky hair and bifid epiglottis, has_material_basis_in homozygous mutation in the FKHL15 gene on chromosome 9q22. [-]

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