Search Result |
Top |
| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01204 | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) | Cerebellar ataxia, mental retardation (MR), and dysequilibrium syndrome (CAMRQ) is autosomal recessive, genetically heterogeneous conditions characterized by early onset of cerebellar ataxia and MR. Patients ... | Nervous system disease | |
| H01205 |
Coumarin resistance Warfarin resistance |
Warfarin is widely prescribed anticoagulant for the prevention of thromboembolic diseases. However, its use is made difficult by the wide interindividual variation in dose required to achieve a therapeutic ... | Inherited metabolic disorder | |
| H01206 | Plasminogen deficiency | Plasminogen deficiency is characterized by decreased serum plasminogen activity. Two forms of the disorder are distinguished. Type 1, also called hypoplasminogenemia, is associated with pseudomembrane ... | Hematologic disease | |
| H01207 | Trigonocephaly | Trigonocephaly is a rare form of craniosynostosis characterized by the premature closure of the metopic suture. It has been reported that mutations in FGFR1 and FREM1 can be associated with trigonocephaly | Congenital malformation | |
| H01208 |
Globozoospermia Round-headed spermatozoa |
Globozoospermia is a rare form of teratozoospermia, mainly characterized by round-headed spermatozoa that lack an acrosome. Acrosome plays an important role at the site of sperm-zona pellucida binding ... | Reproductive system disease | |
| H01209 | Deafness, X-linked | Hereditary deafness is divided into syndromic forms (in which hearing loss is associated with a variety of other anomalies) and non-syndromic forms. Non-syndromic forms are responsible for 70% of the cases ... | Nervous system disease | |
| H01210 | Hypomagnesemia | Hypomagnesemia (HOMG) is defined as a serum magnesium level less than 1.8 mg/dl. Hypomagnesemia may result from inadequate magnesium intake, increased gastrointestinal or renal losses, or redistribution ... | Inherited metabolic disorder | |
| H01211 | MECP2-related severe neonatal encephalopathy | MECP2-related severe neonatal encephalopathy is a rare disorder of males characterized by a static encephalopathy, severe developmental delays, hypotonia, seizures, and respiratory abnormalities that often ... | Congenital malformation | |
| H01212 | Familial encephalopathy with neuroserpin inclusion bodies | Familial encephalopathy with neuroserpin inclusion bodies (FEBIB) is an autosomal dominant dementia that is characterized by the accumulation of mutant neuroserpin as periodic acid Schiff (PAS) positive ... | Neurodegenerative disease | |
| H01213 | Gallbladder disease | Gallbladder disease is one of the most common digestive disorders. Cholecystitis is an inflammation of the gallbladder wall, that is almost always associated with cholelithiasis, or gallstones. Cholecystitis ... | Digestive system disease | |
| H01214 |
Rh-null hemolytic anemia (RHN) Rh-deficiency syndrome |
Rh (Rhesus) null hemolytic anemia (RHN) is a rare autosomal recessive disorder characterized by an absence of Rh antigens and a varying degree of hemolytic anemia and spherostomatocytosis. The Rh protein ... | Hematologic disease | |
| H01215 | Simpson-Golabi-Behmel syndrome | Simpson Golabi Behmel syndrome (SGBS) is a complex congenital overgrowth syndrome with features that include macroglossia, macrosomia, and renal and skeletal abnormalities as well as an increased risk ... | Congenital malformation | |
| H01216 | Left ventricular noncompaction | Left ventricular noncompaction (LVNC) is a rare and potentially progressive cardiomyopathy, characterized by the presence of prominent trabeculations of the left ventricle, associated with progressive ... | Cardiovascular disease | |
| H01217 | Primary localized cutaneous amyloidosis | Primary localized cutaneous amyloidosis (PLCA) is a chronic itchy skin disorder associated with amyloid deposits in the superficial dermis. It is a purely cutaneous disease with no association with systemic ... | Skin disease | |
| H01218 | P14 deficiency | The deficiency of the late endosomal-lysosomal MEK binding partner 1 (MP1)-interacting protein (also known as p14 and MAPBPIP) causes a primary immunodeficiency syndrome comprising congenital neutropenia ... | Primary immunodeficiency | |
| H01219 | Restrictive cardiomyopathy | Restrictive cardiomyopathy (RCM) is an uncommon heart muscle disorder characterized by impaired ventricular filling and increased stiffness of the myocardium with diastolic dysfunction, resulting in atrial ... | Cardiovascular disease | |
| H01220 | Congenital cataracts, facial dysmorphism, and neuropathy | Congenital cataracts, facial dysmorphism, and neuropathy (CCFDN) syndrome is a rare autosomal recessive, complex developmental disorder exclusively manifested in the Roma population. CCFDN is a genetically ... | Congenital malformation | |
| H01221 |
Epithelial basement membrane corneal dystrophy Cogan microcystic epithelial dystrophy Map-dot-fingerprint dystrophy |
Epithelial basement membrane corneal dystrophy (EBMD) is a common bilateral epithelial dystrophy. There is usually no hereditary pattern, but some cases presented with an autosomal dominant inheritance ... | Nervous system disease | |
| H01222 | Cowden syndrome | Cowden syndrome (CS) is an autosomal dominant inherited cancer syndrome characterized by benign and malignant breast, thyroid, and endometrial neoplasias in addition to cutaneous findings and macrocephaly ... | Congenital malformation | |
| H01223 |
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations Chromosome 5q14.3 deletion syndrome |
Mental retardation-stereotypic movements-epilepsy and/or cerebral malformations (MRSME) is a disorder characterized by severe mental retardation, absent speech, hypotonia, poor eye contact and stereotypic ... | Chromosomal abnormality | |
| H01224 | Ketosis-prone diabetes mellitus | Ketosis-prone diabetes (KPD) is a widespread, emerging, heterogeneous syndrome, mostly observed in subjects of west African origin (west Africans and African-Americans), characterized by patients who present ... | Endocrine and metabolic disease | |
| H01225 | D-2-hydroxyglutaric aciduria | D-2-hydroxyglutaric aciduria (D-2-HGA) is an autosomal recessive neurometabolic disorder. Clinical symptoms of D-2-HGA are developmental delay, epilepsy, hypotonia, and dysmorphic features. It has been ... | Inherited metabolic disorder | |
| H01226 |
Polysyndactyly Preaxial polydactyly type IV |
Polysyndactyly, also known as preaxial polydactyly type IV, is a rare autosomal dominant limb malformation, caused by mutations in the GLI3 gene. It is comprising duplicated halluces, with syndactyly of ... | Congenital malformation | |
| H01227 | Inflammatory bowel disease (IBD) | Inflammatory bowel disease (IBD) is a heterogeneous group of chronic disorders, which includes Crohn's disease and ulcerative colitis. Patients suffer chronically from abdominal pain, diarrhea, bleeding ... | Immune system disease | hsa05321 Inflammatory bowel disease |
| H01228 |
Insulin-resistant diabetes mellitus with acanthosis nigricans Type A insulin resistance |
Insulin-resistant diabetes mellitus with acanthosis nigricans (IRAN) is an unusual cause of diabetes that result from metabolic abnormalities associated with mutations of the insulin receptor (INSR) gene ... | Metabolic disease; Endocrine disease | |
| H01229 | Inclusion body myopathy 3 | Inclusion body myopathy 3 (IBM3) is an autosomal dominant myopathy associated with a heterozygous missense mutation in the myosin heavy chain (MyHC) IIa gene (MYH2), changing the highly conserved and negatively ... | Nervous system disease; Musculoskeletal disease | |
| H01230 | Adult-onset autosomal dominant leukodystrophy | Adult-onset autosomal dominant leukodystrophy (ADLD) is a slowly progressive neurological disorder characterized by symmetrical widespread myelin loss in the central nervous system. Although a phenotype ... | Nervous system disease | |
| H01231 |
Biotin-thiamine-responsive basal ganglia disease Thiamine metabolism dysfunction syndrome 2 |
Biotin-thiamine-responsive basal ganglia disease (BTBGD) is a rare autosomal recessive disorder. The disease has its onset in childhood, and is characterized by episodic encephalopathy presenting as confusion ... | Inherited metabolic disorder | |
| H01232 | Syndromic multisystem autoimmune disease | Syndromic multisystem autoimmune disease is a group of hereditary disorders that have a number of clinical features in addition to autoimmune disease. For example, ADMFD is characterized by organomegaly ... | Immune system disease | |
| H01233 |
Urocanase deficiency Urocanic aciduria |
Urocanase deficiency is an autosomal recessive disorder of histidine metabolism caused by mutations in the UROC1 gene. It is characterized by mental retardation, urocanic aciduria, and a defective activity ... | Inherited metabolic disorder | |
| H01234 |
Trimethylaminuria Fish-odor syndrome |
Trimethylaminuria (TMAU), also known as fish odour syndrome, is a metabolic disorder. TMAU usually presents with a body odour resembling that of rotten or decaying fish, the result of excess excretion ... | Inherited metabolic disorder | |
| H01235 | Bleeding disorder platelet-type | Bleeding disorder platelet-type is a condition characterized by mild to moderate mucocutaneous bleeding. Patients are with platelet dysfunction but normal platelet number. It has been reported that these ... | Hematologic disease | |
| H01236 | Familial articular chondrocalcinosis | Chondrocalcinosis is a common cause of joint pain and arthritis caused by calcium deposition in articular cartilage and the presence of calcium hypophosphate crystals in synovial fluid, cartilage and periarticular ... | Musculoskeletal disease | |
| H01237 | Sulfite oxidase deficiency | Sulfite oxidase deficiency is a rare inherited disease with severe neurological symptoms such as intractable neonatal or infantile seizures, hypotonia or hypertonia, feeding difficulties, profound developmental ... | Inherited metabolic disorder | |
| H01238 |
Phelan-McDermid syndrome Chromosome 22q13.3 deletion syndrome |
Phelan-McDermid syndrome is a genetic disorder caused by a microdeletion on chromosome 22. It is characterized by severe expressive-language delay, mild mental retardation, hypotonia, joint laxity, dolichocephaly ... | Chromosomal abnormality | |
| H01239 |
Combined SAP deficiency Prosaposin deficiency |
Combined SAP deficiency is a fatal infantile lysosomal storage disorder with hepatosplenomegaly and severe neurological disease. It is caused by mutations in the PSAP gene leading to absence or non-functionality ... | Inherited metabolic disorder, Lysosomal disease | |
| H01240 |
Immune thrombocytopenia Autoimmune thrombocytopenic purpura |
Immune thrombocytopenic purpura (ITP) is an acquired autoimmune disorder, and the most common cause of isolated thrombocytopenia in children. Destruction of autoantibody-sensitized platelets by Fc[gamma]R-bearing ... | Immune system disease | |
| H01241 | Congenital diaphragmatic hernia | Congenital diaphragmatic hernia (CDH) is defined as a protrusion of abdominal viscera into the thorax through an abnormal opening or defect that is present at birth. CDH is often associated with potentially ... | Congenital malformation | |
| H01242 | Saccharopinuria | Saccharopinuria is a metabolic disorder caused by a defect in a bifunctional protein with lysine-ketoglutarate reductase (LKR) activity and saccharopine dehydrogenase (SDH) activity, aminoadipic semialdehyde ... | Inherited metabolic disorder | |
| H01243 | Huntington disease-like syndrome | Huntington disease (HD), which is caused by a triplet-repeat expansion in the IT15 gene (also known as huntingtin or HD), accounts for about 90% of cases of chorea of genetic etiology. In recent years ... | Neurodegenerative disease |
| [ KEGG | DISEASE | DRUG | MEDICUS ] |