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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01164 | Paracoccus yeei infection | Paracoccus yeei, a gram-negative bacterium, has been identified as an unusual etiologic opportunistic agent in patients with cardiac transplant, automated peritoneal dialysis, or corneal graft. | Bacterial infectious disease | |
| H01165 | Novosphingobium aromaticivorans infection | Novosphingobium aromaticivorans is a gram-negative aerobic bacterium that is well known for its ability to degrade phenolic structures. N. aromaticivorans has been reported to trigger the development of ... | Bacterial infectious disease | |
| H01166 | Sphingomonas paucimobilis infection | Sphingomonas paucimobilis is a yellow-pigmented, non-fermentative, gram-negative bacillus found in water. This bacterium has been reported to cause nosocomial infections and is considered to originate ... | Bacterial infectious disease | |
| H01167 | Granulibacter infection | Granulibacter is a gram-negative acetic acid bacterium that is recently reported to be a human opportunistic pathogen. Granulibacter has been isolated from patients with chronic granulomatous disease, ... | Bacterial infectious disease | |
| H01168 | Sea-blue histiocyte disease | Sea-blue histiocyte disease is a clinical entity characterized by splenomegaly, mild purpura secondary to thrombocytopenia, and most often with a relatively prolonged benign course. Numerous sea-blue histiocytes ... | Inherited metabolic disorder | |
| H01169 | Acetobacter infection | Acetobacter belongs to the group of acetic acid bacteria that oxidize alcohols or sugars incompletely. A. cibinongensis is one of the members that is mainly found in tropical fruits and flowers. A case ... | Bacterial infectious disease | |
| H01170 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a distinct form of hereditary early-onset spastic ataxia related to progressive degeneration of the cerebellum and spinal cord. ARSACS ... | Nervous system disease | |
| H01171 | Poor drug metabolism | Many administered drugs are first activated by phase I drug-metabolizing enzymes, such as cytochrome P450 (CYP). There are some defective activity mutants due to CYP polymorphisms. In these cases, drugs ... | Inherited metabolic disorder | |
| H01172 | Infantile-onset ascending hereditary spastic paralysis | Infantile-onset ascending hereditary spastic paralysis (IAHSP) is a rare autosomal recessive early onset motor neuron disease caused by mutations in the gene ALS2. IAHSP is allelic to juvenile amyotrophic ... | Nervous system disease | |
| H01173 | Stiff skin syndrome | Stiff skin syndrome (SSS) is an autosomal dominant congenital form of scleroderma characterized by stony-hard skin, limitation of joint mobility, and mild hypertrichosis, remarkable in the areas with abundant ... | Skin disease | |
| H01174 | Congenital diarrhea | Congenital diarrheas are a group of rare chronic enteropathies characterized by a heterogeneous etiology. In the first weeks of life, patients usually present with severe diarrhea that within a few hours ... | Digestive system disease | |
| H01175 | Staphylococcal infection | Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Firstly, Staphylococcus lugdunensis is a most unusual coagulase-negative staphylococcus ... | Bacterial infectious disease | |
| H01176 | Uncomplicated urinary tract infection | Staphylococci are widespread as commensals of humans and animals where they colonize the skin or mucous membranes. Staphylococcus saprophyticus is a coagulase-negative Staphylococcus, gram-positive uropathogen ... | Bacterial infectious disease | |
| H01177 | Infantile bilateral striatal necrosis | Infantile bilateral striatal necrosis (IBSN) is a neurological disorder characterized by symmetrical degeneration of the caudate nucleus, putamen, and occasionally the globus pallidus, with little involvement ... | Nervous system disease | |
| H01178 | Myiasis | Myiasis is a parasitic infestation of vital tissue of the skin and mucous membranes by dipterous larvae. Human myiasis is a rare clinic condition but more prevalent in humid tropical and subtropical regions ... | Parasitic infectious disease | |
| H01179 |
Tungiasis Chigoe flea |
Tungiasis is a tropical ectoparasitosis caused by the permanent penetration of the female flea Tunga penetrans into the skin of its host. It is prevalent where people live in extreme poverty, occurring ... | Parasitic infectious disease | |
| H01180 |
Sveinsson chorioretinal atrophy (SCRA) Helicoid peripapillary chorioretinal degeneration (HPCD) |
Sveinsson chorioretinal atrophy (SCRA), also referred to as helicoid peripapillary chorioretinal degeneration (HPCD), is a distinct autosomal dominant disease affecting both eyes characterized clinically ... | Nervous system disease | |
| H01181 | T-cell immunodeficiency congenital alopecia and nail dystrophy | T-cell immunodeficiency congenital alopecia and nail dystrophy (TIDAND) is a severe combined immunodeficiency (SCID) syndrome caused by a mutation in FOXN1 gene encoding a transcription factor selectively ... | Immune system disease | |
| H01182 |
Biotinidase deficiency BTD deficiency Late-onset multiple carboxylase deficiency |
Biotinidase deficiency is an autosomal recessive metabolic disorder in which the biotinidase is defective and the biotin is not recycled. Patients often exhibit feeding or breathing difficulties, skin ... | Inherited metabolic disorder | |
| H01183 |
Thiamine-responsive megaloblastic anemia Thiamine metabolism dysfunction syndrome 1 |
Thiamine-responsive megaloblastic anemia (TRMA), also known as Rogers syndrome, is a rare autosomal recessive inherited disorder characterized by megaloblastic anemia, diabetes mellitus, and progressive ... | Inherited metabolic disorder | |
| H01184 | Familial dementia | Familial British dementia (FBD) and familial Danish dementia (FDD) are two autosomal dominant neurodegenerative diseases caused by mutations in the BRI/ ITM2B gene. Familial dementia is characterized by ... | Neurodegenerative disease | |
| H01185 |
Cerebral amyloid angiopathy Hereditary cerebral hemorrhage with amyloidosis |
Cerebral amyloid angiopathy (CAA) is characterized by the deposition of congophilic material in the vessels of the cortex and leptomeninges. Although CAA most commonly appears in a sporadic form associated ... | Neurodegenerative disease | |
| H01186 | Abnormal thyroid hormone metabolism | Abnormal thyroid hormone metabolism (THMA) is a disorder associated with an inherited selenocysteine (Sec) incorporation defect, caused by mutations in SECISBP2 (also called SBP2). Because SBP2 is epistatic ... | Endocrine and metabolic disease | |
| H01187 |
Tietz syndrome Albinism-deafness syndrome |
Tietz syndrome is an autosomal dominant syndrome of hypopigmentation and deafness. A missense mutation has been found in the basic region of the MITF (microphthalmia associated transcription factor) gene ... | Skin disease | |
| H01188 | Tn syndrome | Tn syndrome is a rare autoimmune disease characterized by the expression of the Tn antigen, an incompletely glycosylated membrane glycoprotein, on all blood cell lineages. The epitope of the Tn antigen ... | Hematologic disease | |
| H01189 | Transaldolase deficiency | Transaldolase (TALDO) deficiency is an inborn error of the pentose phosphate pathway (PPP), presenting primarily with liver disease and variable clinical course. TALDO is one of the key enzymes in the ... | Inherited metabolic disorder | |
| H01190 | Transcobalamin II deficiency | Transcobalamin (TC) II deficiency is a rare autosomal recessive disorder of vitamin B12 (cobalamin, Cbl) transport that leads to intracellular Cbl depletion with secondary impairment of methionine synthetase ... | Inherited metabolic disorder | |
| H01191 | Asthma with nasal polyps and aspirin intolerance | Asthma is a phenotypically heterogeneous disorder with many etiologic factors and clinical characteristics. In some patients with asthma, aspirin and all nonsteroidal anti-inflammatory drugs (NSAIDs) trigger ... | Immune system disease | |
| H01192 |
Lysyl hydroxylase 3 deficiency Bone fragility with contractures arterial rupture and deafness |
Lysyl hydroxylase 3 (LH3) deficiency is a connective tissue disorder, caused by defects in PLOD3 that encodes LH3. This disease is characterized by congenital malformations severely affecting many tissues ... | Congenital malformation | |
| H01193 | Familial tumoral calcinosis | Familial tumoral calcinosis (FTC) refers to a group of disorders inherited in an autosomal recessive fashion, distinguished by the development of ectopic and vascular calcified masses that occur in settings ... | Inherited metabolic disorder | |
| H01194 | X-linked chondrodysplasia punctata | Chondrodysplasia punctata (CDP) is a congenital disorder characterized by a skeletal abnormality, characterized by punctate calcification of the cartilage of the epiphyses, larynx and trachea. Different ... | Congenital malformation | |
| H01195 | VACTERL/VATER association | The acronym VATER/VACTERL association refers to the rare, non-random co-occurrence of vertebral defects (V), anorectal malformations (A), cardiac defects (C), tracheo-esophageal fistula with or without ... | Congenital malformation | |
| H01196 | Hypochromic microcytic anemia | Hypochromic microcytic anemia has been associated with a defect of iron absorption due to reduced iron entry into intestinal cells. Several isoforms of NRAMP2 (SLC11A2) are expressed ubiquitously in recycling ... | Hematologic disease | |
| H01197 | Dihydrofolate reductase deficiency | Dihydrofolate reductase (DHFR) deficiency is a recessive inborn error of metabolism characterized by megaloblastic anemia and cerebral folate deficiency, with variable neurological findings. It is caused ... | Inherited metabolic disorder | |
| H01198 | Fanconi renotubular syndrome | Fanconi renotubular syndrome (FRTS) is a disease resulting from a generalized dysfunction of the proximal kidney tubule leading to decreased solute and water reabsorption. Patients had a generalized proximal ... | Inherited metabolic disorder | |
| H01199 | Hyperalphalipoproteinemia | Hyperalphalipoproteinemia (HALP) is a condition of elevated high-density lipoprotein cholesterol (HDL-C) level caused by a variety of genetic and environmental factors. The most important cause of primary ... | Inherited metabolic disorder | |
| H01200 | Fatal infantile cardioencephalomyopathy | Fatal infantile cardioencephalomyopathy (CEMCOX) is a disorder of the mitochondrial respiratory chain characterized by neonatal progressive muscular hypotonia and cardiomyopathy because of severe cytochrome ... | Inherited metabolic disorder | |
| H01201 |
Jensen syndrome Opticoacoustic nerve atrophy |
Jensen syndrome is X-linked deafness syndromes associated with progressive visual deterioration, dystonia, dementia, and psychiatric abnormalities. Causative mutations were identified within the deafness-dystonia ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01202 | Cataract | Cataracts can be defined as any opacity of the crystalline lens, often associated with breakdown of the lens microarchitecture, possibly including vacuole formation and disarray of lens cells, which can ... | Nervous system disease | |
| H01203 |
Primary congenital glaucoma Glaucoma 3 |
Primary congenital glaucoma (PCG) is a severe form of glaucoma that presents early in life. PCG results from developmental abnormalities that affect the aqueous humor outflow pathway. PCG clinical features ... | Congenital malformation |
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