Search Diseases
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Disease | Synonyms | Description | Articles | Phenotypes |
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Riley-Day syndrome |
HSAN III; familial autonomic nervous dysfunction; ..
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n_a
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bulimia nervosa |
hyperorexia nervosa
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An eating disorder characterized by the restrainin..[+]
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factor VIII deficiency |
Hemophilia A; Congenital factor VIII disorder; Sub..
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An X-linked disease that has_material_basis_in Fac..[+]
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low compliance bladder |
n_a
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cascade stomach |
Hourglass stricture or stenosis of stomach
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n_a
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Vogt-Koyanagi-Harada disease |
Harada's disease; uveomeningoencephalitic syndrome..
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A hypersensitivity reaction type II disease that i..[+]
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secondary hyperparathyroidism of renal origin |
hyperparathyroidism due to renal insufficiency; se..
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n_a
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newborn respiratory distress syndrome |
A respiratory failure that is characterized by def..[+]
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mucopolysaccharidosis II |
A mucopolysaccharidosis characterized by a deficie..[+]
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mucopolysaccharidosis III |
heparan sulfate sulfatase deficiency; MPS IIIA - S..
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A mucopolysaccharidosis characterized by a deficie..[+]
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mucopolysaccharidosis I |
A mucopolysaccharidosis characterized by a deficie..[+]
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Achilles bursitis |
n_a
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choreatic disease |
hereditary chorea; chorea
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A movement disease characterized by brief, semi-di..[+]
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Werdnig-Hoffmann disease |
HMN (Hereditary motor Neuropathy) Proximal type I; ..
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A childhood spinal muscular atrophy that is a seve..[+]
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porphyria |
Hematoporphyria; disorder of porphyrin and hem met..
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An inherited metabolic disorder that involves cert..[+]
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temporal arteritis |
Horton's disease; Giant cell Arteritis; Giant cell..
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n_a
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uveoparotid fever |
A sarcoidosis that is characterized by unilateral ..[+]
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childhood disintegrative disease |
Heller's syndrome; Disintegrative psychosis NOS (d..
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A pervasive developmental disorder that is a rare ..[+]
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Addison's disease |
HYPOADRENOCORTICISM, FAMILIAL; Addison disease; Ad..
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An adrenal cortical hypofunction that is character..[+]
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familial combined hyperlipidemia |
hyperbetalipoproteinemia with prebetalipoproteinem..
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n_a
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familial hypercholesterolemia |
hyperbetalipoproteinemia; familial hyperbetalipopr..
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A familial hyperlipidemia characterized by very hi..[+]
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tetanic cataract |
Hypocalcaemic cataract
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n_a
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CADASIL |
hereditary multi-infarct dementia; cerebral autoso..
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An autosomal dominant cerebrovascular disorder cha..[+]
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Morgagni cataract |
hypermature cataract
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n_a
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blackwater fever |
Hemoglobinuric, malaria; Black water fever (disord..
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A malaria that presents as a rare febrile complica..[+]
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epicondylitis |
hockey elbow; andrel epicondylitis; archer's elbow..
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A bone inflammation disease that results_in inflam..[+]
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familial lipoprotein lipase deficiency |
A familial hyperlipemia characterized by a deficie..[+]
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bilateral hyperactive labyrinth |
n_a
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von Hippel-Lindau disease |
Hippel Lindau syndrome; von Hippel-Lindau syndrome..
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n_a
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estrogen excess |
hyperestrogenism
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n_a
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neuronal ceroid lipofuscinosis |
hereditary ceroid lipofuscinosis
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n_a
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Axenfeld-Rieger syndrome |
Hagedoom syndrome; Anomaly, Rieger's; Axenfeld syn..
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An autosomal dominant disease characterized by abn..[+]
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Clouston syndrome |
Hidrotic ectodermal dysplasia syndrome (disorder); ..
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n_a
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renal agenesis |
A renal disease that is characterized by the failu..[+]
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polycystic echinococcosis |
human polycystic hydatid disease; neotropical echi..
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An echinococcosis that is caused by the larvae of ..[+]
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X-linked dominant hypophosphatemic rickets |
A rickets has_material_basis_in X-linked mutations..[+]
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Gitelman syndrome |
HYPOMAGNESEMIA-HYPOKALEMIA, PRIMARY RENOTUBULAR, W..
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n_a
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nonphotosensitive trichothiodystrophy 4 |
HAIR-BRAIN SYNDROME; AMISH BRITTLE HAIR BRAIN SYND..
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A syndrome that is characterized by brittle hair, ..[+]
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SC phocomelia syndrome |
Hypomelia Hypotrichosis Facial hemangioma syndrome..
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n_a
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Charcot-Marie-Tooth disease type 1 |
hereditary motor and sensory neuropathy type 1
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A Charcot-Marie-Tooth disease characterized by dem..[+]
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Charcot-Marie-Tooth disease type 2 |
A Charcot-Marie-Tooth disease characterized by abn..[+]
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Charcot-Marie-Tooth disease type 4 |
hereditary motor and sensory neuropathy
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A Charcot-Marie-Tooth disease characterized by dem..[+]
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visceral heterotaxy |
heterotaxia; situs ambiguus
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A physical disorder characterized by the abnormal ..[+]
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Walker-Warburg syndrome |
HARD syndrome; cerebroocular dysplasia-muscular dy..
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n_a
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Seckel syndrome |
Harper's syndrome; bird-headed dwarfism; microceph..
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An autosomal recessive disease characterized by in..[+]
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tooth agenesis |
hypodontia; familial tooth agenesis; oligodontia; ..
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A tooth disease characterized by failure to develo..[+]
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acheiropody |
Horn-Kolb Syndrome; Acheiropodia
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n_a
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acrokeratosis verruciformis |
Hopf disease; Acrokeratosis verruciformis of Hopf; ..
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n_a
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anonychia congenita |
HYPONYCHIA CONGENITA
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n_a
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Bamforth-Lazarus syndrome |
HYPOTHYROIDISM, ATHYROIDAL, WITH SPIKY HAIR AND CL..
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A hypothyroidism that is characterized by thyroid ..[+]
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