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Entry Name Description Category Pathway
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 disease
H01728 Potter syndrome
Potter sequence
Potter syndrome is a rare fatal disorder that occurs in sporadic and hereditary forms. It affects predominantly male babies and is accompanied by severe oligohydramnios, polycystic kidney, bilateral renal ... Congenital malformation
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 hsa03013 RNA transport
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 hsa04120 Ubiquitin mediated proteolysis
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 that presents with growth deficiency, photosensitivity with poikilodermatous skin changes, cataracts, early greying and loss of hair ... 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 ... Vascular disease
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 hsa04014 Ras signaling pathway
hsa04010 MAPK signaling pathway
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 system disease; Reproductive system 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 hsa04151 PI3K-Akt signaling pathway
hsa04510 Focal adhesion
hsa04611 Platelet activation
hsa04810 Regulation of actin cytoskeleton
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 hsa03050 Proteasome
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 ... Vascular disease hsa04022 cGMP-PKG signaling pathway
hsa04310 Wnt signaling pathway
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 caracterized by early-onset recurrent erythematous plaques ... Immune system disease hsa04064 NF-kappa B signaling pathway
H01744 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
HOIL-1 deficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis is a rare autosomal recessive disorder characterized by chronic autoinflammation, invasive bacterial infections, and muscular ... Immune system disease hsa04621 NOD-like receptor signaling pathway
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 hsa04010 MAPK signaling pathway
H01746 STING-associated vasculopathy with onset in infancy STING (stimulator of interferon genes)-associated basculopathy 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 hsa04621 NOD-like receptor signaling pathway
hsa04622 RIG-I-like receptor signaling pathway
hsa04623 Cytosolic DNA-sensing pathway
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 hsa04014 Ras signaling pathway
H01748 Autoinflammation with infantile enterocolitis Autoinflammation with infantile enterocolitis (AIFEC) is a rare autosomal dominant disease characterized by neonatal-onset enterocolitis, periodic fever, and fatal/near-fatal episodes of autoinflammation ... Immune system disease hsa04621 NOD-like receptor signaling pathway
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 hsa00310 Lysine degradation
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 ... Developmental disorder; Vascular disease
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; Skin and connective tissue disease
H01759 Autoimmune hemorrhaphilia XIII/13
Autoimmune acquired factor XIII (F13) deficiency
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 disease; Liver disease hsa00010 Glycolysis / Gluconeogenesis
hsa00500 Starch and sucrose metabolism
hsa04910 Insulin signaling pathway
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 disease; Musculoskeletal disease hsa00010 Glycolysis / Gluconeogenesis
hsa00500 Starch and sucrose metabolism
hsa04910 Insulin signaling pathway
hsa04922 Glucagon signaling pathway
hsa04142 Lysosome
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 disease hsa00860 Porphyrin and chlorophyll metabolism
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; Respiratory disease; Skin and connective tissue 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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