Search Result

1 to 12 of 12

Entry	Name	Description	Category	Gene
H00223	Inherited thrombophilia Thrombophilia due to thrombin defect (THPH)	Congenital thrombophilias are inherited disorders associated with an increased tendency to venous thromboembolism caused by mutation of genes affecting the anticoagulant pathways of blood coagulation.	Hematologic disease	(THPH1) F2 [HSA:2147] [KO:K01313] (THPH2) F5 [HSA:2153] [KO:K03902] (THPH3/4) PROC [HSA:5624] [KO:K01344] (THPH5/6) PROS1 [HSA:5627] [KO:K03908] (THPH7) SERPINC1 [HSA:462] [KO:K03911] (THPH8) F9 [HSA:2158] [KO:K01321] (THPH10) SERPIND1 [HSA:3053] [KO:K03912] (THPH11) HRG [HSA:3273] [KO:K23410] (THPH12) THBD [HSA:7056] [KO:K03907] (THPH13) F8 [HSA:2157] [KO:K03899] FGA [HSA:2243] [KO:K03903] FGB [HSA:2244] [KO:K03904] FGG [HSA:2266] [KO:K03905]
H00362	Giardiasis Lambliasis	Giardiasis is one of the most common parasite-induced diarrhea caused by the protozoan parasite Giardia lamblia. Infection is transmitted by ingestion of contaminated water or food, or by person-to-person ...	Parasitic infectious disease
H00634	Duane-radial ray syndrome Okihiro syndrome	Duane-radial ray syndrome alias Okihiro syndrome is an autosomal dominant condition characterized by an association of Duane retraction syndrome (eye retraction) with radial malformations of the upper ...	Congenital malformation	SALL4 [HSA:57167] [KO:K19871]
H01044	Dracunculiasis Guinea worm disease	Dracunculiasis, or guinea worm disease, is a parasitic disease caused by the nematode Dracunculiasis medinensis. It is limited to mostly remote rural communities that do not have access to safe drinking ...	Parasitic infectious disease
H01048	Liver fluke disease Fascioliasis	Fascioliasis is a foodborne zoonotic disease caused by the liver flukes Fasciola hepatica and Fasciola gigantica. Whereas in Europe, the Americas and Oceania only F. hepatica is concerned, the distributions ...	Parasitic infectious disease
H01061	Mansonelliasis	Mansonelliasis is one of the filarial nematode infections widespread in many parts of Sub-Saharan Africa and in parts of Central and South America. The nematode, Mansonella perstans, is transmitted by ...	Parasitic infectious disease
H01617	Foodborne trematodiasis Foodborne trematode infection	... that cause clonorchiasis, Opisthorchis spp. that cause opisthorchiasis, Fasciola spp. that cause fascioliasis and Paragonimus spp. that cause paragonimiasis. Foodborne trematode infections are accomplished ...	Parasitic infectious disease
H02028	Filariasis	Lymphatic filariasis, onchocerciasis, mansonelliasis and loiasis caused by parasitic roundworms (nematodes) called filariae are diseases of tropical and subtropical countries causing high morbidity.	Parasitic infectious disease
H02403	Angiostrongyliasis	Angiostrongyliasis is a food-borne parasitic zoonosis caused by nematode worms of the genus Angiostrongylus. Over 20 species of Angiostrongylus are currently recognized. Two species, A. cantonensis and ...	Parasitic infectious disease
H02407	Trichostrongyliasis	Trichostrongyliasis is an infectious disease caused by nematodes of the genus Trichostrongylus. Over 10 species of Trichostrongylus have been reported in humans. Trichostrongylus colubriformis and T. orientalis ...	Parasitic infectious disease
H02409	Dicrocoeliasis	Dicrocoeliosis is a rare food-borne parasitic zoonosis caused by Dicrocoelium dendriticum, commonly known as the Lancet liver fluke. Human infection occurs by accidental ingestion of the second intermediate ...	Parasitic infectious disease
H02438	Hyperglycinemia, lactic acidosis, and seizures	... acidosis, and elevated glycine concentration in plasma and urine. Mutations in the lipoate synthase gene (LIAS) have been identified in patients with HGCLAS. LIAS is essential in the maturation of lipoic acid ...	Inherited metabolic disorder	LIAS [HSA:11019] [KO:K03644]

1 to 12 of 12