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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01726 | Membranoproliferative glomerulonephritis | Membranoproliferative glomerulonephritis (MPGN) represents a pattern of glomerular injury, characterized by mesangial proliferation and expansion, lobularization of the glomerular tufts, and double contours ... | Immune system disease; Urinary system disease | |
| H01727 | Primary alveolar hypoventilation syndrome | Primary alveolar hypoventilation syndrome (PAHS) is a rare disorder which shows hypoxemia and hypercapnia without apparent associated pulmonary, neuromuscular, and central nervous diseases. PAHS is characterized ... | Respiratory system disease | |
| H01729 |
Premature ventricular complexes Premature ventricular contractions |
Premature ventricular complex (PVC) is characterized by the premature occurrence of a QRS complex that is bizarre in shape and lasts longer than 120 msec. The T wave is large and usually of opposite polarity ... | Cardiovascular disease | |
| H01730 | Myocardial infarction | Myocardial infarction (MI) or acute myocardial infarction (AMI) is a term for an event of heart attack. It is due to formation of plaques in the interior walls of the arteries resulting in reduced blood ... | Cardiovascular disease | |
| H01731 | Fragile X tremor/ataxia syndrome | Fragile X tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder affecting carriers of premutation CGG repeat expansions (range: 55-200) in the fragile X mental retardation 1 (FMR1) gene. Common ... | Chromosomal abnormality | |
| H01732 | Angelman syndrome | Angelman syndrome (AS) and Prader-Willi syndrome (PWS) are the most studied genomic-imprinting disorders mapped to chromosome 15q11-q13. Lack of a functional maternal copy of UBE3A, a gene within 15q11-q13 ... | Chromosomal abnormality | |
| H01733 | Werner syndrome | Werner syndrome (WS) is a premature aging disorder with a complex phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract ... | Endocrine and metabolic disease | |
| H01734 | Rothmund-Thomson syndrome | Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by poikiloderma, sparse hair, short stature, and skeletal anomalies. RTS type 1 is associated with juvenile cataracts ... | Congenital malformation | |
| H01735 | Lymphangiomatosis | Lymphangiomatosis is a well-recognized congenital benign tumour, frequently seen in infancy and childhood, characterized by the presence of multiple lymphangiomas. The lymphangiomatosis spectrum encompasses ... | Neoplasm | |
| H01736 | Persistent truncus arteriosus | Persistent truncus arteriosus (PTA) is a rare congenital condition in which a solitary arterial trunk arises from the base of the heart and supplies the coronary, pulmonary and systemic arteries. It is ... | Cardiovascular disease | |
| H01737 | Epidermolysis bullosa | Inherited epidermolysis bullosa (EB) is a diverse group of disorders that encompass dozens of clinically and genotypically distinct diseases. It is characterized by mechanically fragile skin that readily ... | Congenital malformation | |
| H01738 | Noonan syndrome | Noonan syndrome (NS) is an autosomal dominant disorder characterised by short stature, craniofacial dysmorphism, congenital cardiac defects, cryptorchidism in men, coagulation defects, and neurocognitive ... | Congenital malformation | |
| H01739 | Polycystic ovary syndrome | Polycystic ovary syndrome (PCOS) is a common heterogeneous endocrine disorder characterized by elevated androgen levels, menstrual irregularities, and/or small cysts on one or both ovaries. Clinical manifestations ... | Endocrine and metabolic disease | |
| H01740 | Macrothrombocytopenia | Macrothrombocytopenia (MTP) is a heterogeneous group of disorders characterized by enlarged and reduced numbers of circulating platelets, sometimes resulting in abnormal bleeding. The clinical presentations ... | Hematologic disease | |
| H01741 |
Autoinflammation lipodystrophy and dermatosis syndrome Proteasome associated autoinflammatory syndromes (PRAAS) Chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE) syndrome Joint contractures, muscle atrophy, microcytic anemia, and panniculitis-induced lipodystrophy (JMP) Japanese autoinflammatory syndrome with lipodystrophy (JASL) |
Autoinflammation lipodystrophy and dermatosis syndrome (ALDD) is a systemic inflammatory condition characterized by recurrent episodes of fever, cutaneous lesions, lipodystrophy, and visceral inflammatory ... | Immune system disease | |
| H01742 | Coronary artery disease | Coronary artery disease (CAD) is one of the leading causes of death globally. CAD is coupled to a pathogenic process in which lipids and lipoproteins accumulate in the subendothelial intimal layer of the ... | Cardiovascular disease | |
| H01743 | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation | Autoinflammation and PLCG2-associated antibody deficiency and immune dysregulation (APLAID) is a rare autosomal dominant autoinflammatory disease characterized by early-onset recurrent erythematous plaques ... | Immune system disease | |
| H01744 | Polyglucosan body myopathy | Polyglucosan body myopathy (PGBM) is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular amylopectinosis. Patients carried biallelic ... | Immune system disease | |
| H01745 | Cardiofaciocutaneous syndrome | Cardio-facio-cutaneous (CFC) syndrome is a congenital disorder characterized by short stature, a characteristic face, cardiac defects, developmental delay and mental retardation. Affected individuals present ... | Congenital malformation | |
| H01746 | STING-associated vasculopathy with onset in infancy | STING (stimulator of interferon genes)-associated vasculopathy with onset in infancy (SAVI) is a rare hereditary autoinflammatory disorder caused by gain-of-function mutations in TMEM173, the gene encoding ... | Immune system disease | |
| H01747 | Costello syndrome | Costello syndrome (CS) is a rare multiple congenital abnormality syndrome. Patients present with the typical coarse face, deep palmar and plantar creases, redundant and loose skin, severe failure to thrive ... | Congenital malformation | |
| H01748 | NLRC4 inflammasomopathy | The NLRC4 inflammasomopathies comprise a growing autoinflammatory disease category that spans a broad clinical spectrum from cold urticaria to the autoinflammation with infantile enterocolitis (AIFEC) ... | Immune system disease | |
| H01749 | Achondroplasia | Achondroplasia is the most common skeletal dysplasia and the most frequent cause of short-limbed dwarfism. It is usually recognised at birth because of its distinctive clinical and radiographic features ... | Congenital malformation | |
| H01750 | Thanatophoric dysplasia | Thanatophoric dysplasia (TD) is a congenital skeletal dysplasia characterized by marked underdevelopment of the skeletal system and short-limb dwarfism. It is the most common form of lethal skeletal dysplasia ... | Congenital malformation | |
| H01751 | Weaver syndrome | Weaver syndrome (WS) is an overgrowth syndrome, characterized by tall stature, a typical facial appearance, and variable intellectual disability. Although there is phenotypic overlap between Weaver syndrome ... | Congenital malformation | |
| H01752 |
ATR-X syndrome X-linked alpha-thalassemia/mental retardation syndrome |
X-linked alpha-thalassemia/mental retardation syndrome (ATR-X syndrome) is a rare syndromic form of X-linked mental retardation. It is characterized by severe mental retardation in males, characteristic ... | Congenital malformation | |
| H01753 | Antley-Bixler syndrome | Antley-Bixler syndrome (ABS) is a rare craniosynostosis syndrome characterized by radiohumeral synostosis. There is a wide spectrum of anomalies seen in ABS. Other features include midface hypoplasia, ... | Congenital malformation | |
| H01754 | Crouzon syndrome | Crouzon syndrome (CS) is an autosomal dominant disorder characterized by generalized craniosynostoses, maxillary hypoplasia, widely spaced but shallow orbits with prominent globes. Heterozygous mutations ... | Congenital malformation | |
| H01755 | Apert syndrome | Apert syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, severe syndactyly of hands and feet, and dysmorphic facial features. Other frequent complications include cleft palate ... | Congenital malformation | |
| H01756 | Pfeiffer syndrome | Pfeiffer syndrome is a rare autosomal dominant disorder characterized by craniosynostosis, brachycephaly, midface hypoplasia, and broad and deviated thumbs and great toes. Based on the severity of the ... | Congenital malformation | |
| H01757 |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy CARASIL |
Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy (CARASIL) is a very rare autosomal recessive vascular disorder characterized by nonhypertensive cerebral small-vessel ... | Congenital malformation | |
| H01758 | Relapsing polychondritis | Relapsing polychondritis (RP) is a rare multisystemic disease widely accepted as a complex autoimmune disorder affecting proteoglycan-rich structures and cartilaginous tissues, including the ear, nose ... | Musculoskeletal disease | |
| H01759 |
Autoimmune acquired factor XIII (F13) deficiency Autoimmune hemorrhaphilia XIII/13 |
Autoimmune acquired factor XIII (F13) deficiency or autoimmune hemorrhaphilia resulted from the generation of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contrast ... | Hematologic disease | |
| H01760 | Hepatic glycogen storage disease | Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. The ... | Inherited metabolic disorder | |
| H01761 |
Immunoglobulin G4-related disease Immunoglobulin G4-positive multi-organ lymphoproliferative syndrome |
Immunoglobulin G4-related disease is a distinct clinical entity characterised by hyper-IgG4 gammaglobulinemia and IgG4 positive plasma cell infiltration in the tissue. Other characteristic features of ... | Immune system disease | |
| H01762 | Muscle glycogen storage disease | Glycogen storage diseases (GSD) are inherited metabolic disorders of glycogen metabolism. They are divided into types 0 to XV, according to enzyme or transporter deficiency and organ distribution. Disorders ... | Inherited metabolic disorder | |
| H01763 | Porphyria | Porphyria is an inborn error of heme biosynthesis porphyrin metabolism caused by deficiency of enzymes of porphyrin metabolism. The intermediates of this pathway (porphyrinogens, porphyrins and their precursors) ... | Inherited metabolic disorder | |
| H01764 | Polysplenia syndrome | Polysplenia syndrome (PSS) is a rare subtype of heterotaxy syndrome with multiple spleens. It has been reported that most patients die before 5 years of age because the disease is often associated with ... | Congenital malformation | |
| H01765 |
Eosinophilic sinusitis Eosinophilic chronic rhinosinusitis |
Eosinophilic chronic rhinosinusitis (ECRS) is an inflammatory pathological condition of the nose and paranasal sinuses. Chronic rhinosinusitis (CRS) is a common disease worldwide, and CRS may be divided ... | Immune system disease | |
| H01766 | Juvenile retinoschisis | Juvenile retinoschisis is an early-onset X-linked retinal disease caused by mutations in retinoschisin (RS1), extracellular protein implicated in retinal cell adhesion. This disease is the leading cause ... | Congenital malformation |
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