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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01124 | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency | Pyridoxamine-5'-phosphate oxidase (PNPO) deficiency is a rare autosomal recessive disorder that causes intractable seizures that are not responsive to anticonvulsant drugs and pyridoxine. Patients with ... | Nervous system disease | |
| H01125 | Hereditary pyropoikilocytosis | Hereditary pyropoikilocytosis (HPP) is a recessively inherited form of hemolytic anemia characterized by peripheral blood morphology presenting with striking anisopoikilocytosis with red cell fragmentation ... | Hematologic disease | |
| H01126 | Familial renal glucosuria | Familial renal glucosuria (FRG) is a rare autosomal recessive disorder of the kidney characterized by decreased renal tubular resorption of glucose from the urine in the absence of hyperglycemia and any ... | Inherited metabolic disorder | |
| H01127 | PIGM-congenital disorder of glycosylation | PIGM-congenital disorder of glycosylation (PIGM-CDG) is an autosomal recessive disorder characterized by portal- and hepatic-vein thrombosis and epilepsy. Hypomorphic promoter mutation in PIGN causes this ... | Inherited metabolic disorder | |
| H01128 | Reticular dysgenesis | Reticular dysgenesis (RD) is a rare congenital immunodeficiency classified within the severe combined immunodeficiencies (SCIDs). It is inherited in an autosomal recessive manner, and is characterized ... | Immune system disease | |
| H01129 | Brody myopathy | Brody myopathy is an autosomal recessive disorder of skeletal muscle function characterized by painless muscle contracture and exercise-induced impairment of muscle relaxation due to a defect of calcium ... | Nervous system disease; Musculoskeletal disease | |
| H01130 | Late-onset retinal degeneration | Late-onset retinal degeneration (LORD) is a rare autosomal dominant ocular disease characterized by onset in the fifth to sixth decade with night blindness and punctate yellow-white deposits between the ... | Nervous system disease | |
| H01131 |
Hereditary neuralgic amyotrophy Hereditary brachial plexus neuropathy |
Hereditary neuralgic amyotrophy (HNA) is an autosomal dominant peripheral neuropathy characterized by recurrent painful brachial plexus neuropathies with weakness and atrophy of arm muscles and sensory ... | Nervous system disease | |
| H01132 | Aplastic anemia | Aplastic anemia (AA) is a rare disease in which the reduction of the circulating blood cells results from damage to the stem cell pool in bone marrow. Most cases of acquired aplastic anemia are the consequence ... | Hematologic disease | |
| H01133 | Reynolds syndrome | Reynolds syndrome is a rare disease associating primary biliary cirrhosis (PBC) and systemic scleroderma (SSc). It is typically classified as an autoimmune disorder since there are specific autoantibodies ... | Immune system disease | |
| H01134 | Rhabdoid predisposition syndrome | Rhabdoid predisposition syndrome (RPS) is familial cases of highly malignant, aggressive, embryonal neoplasms manifested in early infancy and childhood that may originate from virtually any tissue, generally ... | Cancer | |
| H01135 | Ribose 5-phosphate isomerase deficiency | Ribose 5-phosphate isomerase (RPI) deficiency is a very rare enzymopathy of the pentose phosphate pathway with one sole diagnosed case. The patient presented with progressive leukoencephalopathy and peripheral ... | Inherited metabolic disorder | |
| H01136 | Carboxypeptidase N deficiency | Carboxypeptidase N (CPN) is a plasma zinc metalloprotease that inactivates C3a, C4a, C5a, bradykinin, kalladin, and fibrinopeptides. CPN has been implicated as a major regulator of inflammation. Although ... | Immune system disease | |
| H01137 | Baylisascariasis | Baylisascariasis is a parasitic infection caused by Baylisascaris procyonis, a large nematodes of the order Ascaridida. The full clinical spectrum of human baylisascariasis includes visceral larva migrans ... | Parasitic infectious disease | |
| H01138 | Hymenolepiasis | Hymenolepiasis is an infection caused by two species of tapeworm, Hymenolepis nana and H. diminuta, that are common in tropical and subtropical climates. H. nana mostly causes human infections, the source ... | Parasitic infectious disease | |
| H01139 | Human granulocytic anaplasmosis | Human granulocytic anaplasmosis (HGA), previously known as human granulocytic ehrlichiosis (HGE), is a tick-borne infection caused by Anaplasma phagocytophilum. It results in symptoms ranging from mild ... | Bacterial infectious disease | |
| H01140 |
Sennetsu neorickettsiosis Sennetsu ehrlichiosis |
Neorickettsia sennetsu, an obligate intracellular bacteria closely related to Ehrlichia and Anaplasma, causes an infectious mononucleosis-like disease. It is very likely linked to consumption of raw fish ... | Bacterial infectious disease | |
| H01141 | Human monocytic ehrlichiosis | Human monocytic ehrlichiosis is a tick-borne infectious disease caused by Ehrlichia chaffeensis that infects mononuclear phagocytic cells. The bacterium is maintained in nature involving many vertebrate ... | Bacterial infectious disease | |
| H01142 | Ehrlichia ewingii infection | Human ehrlichiosis is a recently recognized tick-borne infection. Ehrlichia ewingii has been identified as a cause of human disease in addition to formerly known pathogenic Ehrlichia species. | Bacterial infectious disease | |
| H01143 | Vitamin D-dependent rickets | Rickets is the failure of growing bone to mineralize. Many skeletal and radiographic changes can occur because of the lack of calcified osteoid and the buildup of unossified cartilage. Vitamin D-dependent ... | Inherited metabolic disorder | |
| H01144 | Ochrobactrum anthropi infection | Ochrobactrum anthropi is a ubiquitous oxidase-producing gram-negative bacillus. The pathogen is recognized increasingly as a causative agent of central catheter-related infections, causing bloodstream ... | Bacterial infectious disease | |
| H01145 |
Atransferrinemia Congenital hypotransferrinemia |
Atransferrinemia is a rare autosomal recessive disorder characterized by iron overload and hypochromic anemia. A few cases of human atransferrinemia with mutations in the transferrin gene have been reported | Cardiovascular disease | |
| H01146 | Aminoacylase 1 deficiency | Aminoacylase 1 deficiency is an autosomal recessive disease characterized by accumulation of N-acetyl amino acids in the urine. In affected individuals neurological findings such as febrile seizures, delay ... | Inherited metabolic disorder | |
| H01147 | Methylobacterium infection | Methylobacterium species are fastidious, pink-pigmented, gram-negative bacilli that rarely cause human infections. It has been reported to that the bacterium can cause catheter-related infection in both ... | Bacterial infectious disease | |
| H01148 | Caulobacter infection | The genus Caulobacter is a gram-negative bacterium characterized by asymmetric cell division and stalk. Although infection with Caulobacter species is rare, a case has been reported in a patient undergoing ... | Bacterial infectious disease | |
| H01149 | Ring dermoid of cornea | The ring dermoid of the cornea (RDC) is an autosomal dominantly inherited syndrome characterised by bilateral annular limbal dermoids with corneal and conjunctival extension. A mutation in PITX2 has been ... | Neoplasm | |
| H01150 | Phenylobacterium infection | Phenylobacterium is a gram-negative rod bacterium. The first case of cutaneous infectious granuloma caused by this bacterium was reported in 2010. | Bacterial infectious disease | |
| H01151 | Brevundimonas infection | Brevundimonas species are aerobic non-fermenting gram-negative bacilli. They are infrequently isolated from clinical samples and can cause opportunistic infections in patients with underlying diseases | Bacterial infectious disease | |
| H01152 | Taenia saginata infection | Taenia saginata (beef tapeworm) infection, which causes chronic abdominal pain or persistent diarrhea, is caused by the ingestion of the larval stage of cysticerci in beef. T. saginata is distributed worldwide ... | Parasitic infectious disease | |
| H01153 | Human echinococcosis | Human echinococcosis is a zoonosis caused by the larval stages of the cestode parasites Echinococcus granulosus and E. multilocularis, affecting an estimated 2-3 million people worldwide. Contamination ... | Parasitic infectious disease | |
| H01154 |
Wolff-Parkinson-White (WPW) syndrome Preexcitation syndrome |
Wolff-Parkinson-White (WPW) syndrome is the most common cause of ventricular pre-excitation, a condition where all or part of the ventricle is excited earlier than would normally be expected, often leading ... | Cardiovascular disease | |
| H01155 | Roussy-Levy syndrome | Roussy-Levy syndrome (RLS) is a dominantly inherited early-onset syndrome consisting of gait ataxia, pes cavus, areflexia, eventually associated with muscle atrophy, postural tremors, limb ataxia, kyphoscoliosis ... | Nervous system disease | |
| H01156 | STAR syndrome | STAR syndrome is an X-linked dominant disorder caused by mutations in the cyclin family member FAM58A characterized by syndactyly, telecanthus, and anogenital and renal malformations. The cardinal features ... | Congenital malformation | |
| H01157 | Agrobacterium radiobacter infection | Agrobacteria are small, gram-negative bacilli widely distributed in soil. They are best known for the phytopathogenicity, causing tumorigenic disease in plants. However, Agrobacterium spp. are also recognized ... | Bacterial infectious disease | |
| H01158 | Alopecia universalis | Alopecia universalis is the most severe form of alopecia areata, characterized by generalized scalp and body atrichia with papular lesions. Mutations in the gene HR coding for the Hairless protein are ... | Skin disease | |
| H01159 | Anterior segment dysgenesis | Anterior segment dysgenesis (ASGD) is a range of developmental defects in structures at the front of the eye. These defects are thought to result from abnormal migration or differentiation of the neural-crest ... | Congenital malformation | |
| H01160 | Schizencephaly | Schizencephaly is a clinically and etiologically heterogeneous cerebral malformation presenting as unilateral or bilateral hemispheric cleft with direct connection between the inner and outer liquor spaces ... | Congenital malformation | |
| H01161 | Aromatic L-amino acid decarboxylase deficiency | Aromatic L-amino acid decarboxylase (AADC) deficiency is an autosomal recessive disorders of monoamine neurotransmitter metabolism, clinically characterized by vegetative symptoms, oculogyric crises, dystonia ... | Nervous system disease | |
| H01162 |
Scott syndrome Bleeding disorder platelet-type 7 (BDPLT7) |
Scott syndrome is a rare autosomal recessive congenital bleeding disorder caused by a defect in blood coagulation. When platelets are activated, a calcium-induced rearrangement of the platelet membrane ... | Hematologic disease | |
| H01163 | Corticosteroid-binding globulin (CBG) deficiency | Corticosteroid-binding globulin (CBG) deficiency is a rare autosomal recessive disorder associated with hypotension and fatigue. CBG is the main transport protein for glucocorticoids in blood and only ... | Endocrine and metabolic disease |
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