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Entry Name Description Category Pathway
H00804 Multiple cutaneous and uterine leiomyomata Multiple cutaneous and uterine leiomyomatosis (MCUL) is a rare autosomal dominant disorder that affects both sexes. It is characterized by benign skin tumors arising from the arrector pili muscle, and ... Cancer hsa00020 Citrate cycle (TCA cycle)
hsa01100 Metabolic pathways
H00805 Vitreoretinal degeneration The inherited vitreoretinal degenerations are disorders of the eye characterized by early onset cataract, anomalies of the vitreous manifesting as optically empty vitreous, course fibrils, and membranes ... Nervous system disease hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
hsa04514 Cell adhesion molecules
H00806 Benign familial neonatal seizure Benign familial neonatal seizure (BFNS) is a benign epilepsy syndromes with autosomal dominant inheritance. They are a group of epilepsies which have a primary genetic background, usually no structural ... Nervous system disease hsa04725 Cholinergic synapse
H00807 Nocturnal frontal lobe epilepsy Nocturnal frontal lobe epilepsy (ENFL) is characterized by nocturnal, frequent, brief and stereotypic seizures. Ictal video electroencephalographic (EEG) studies have revealed partial seizures originating ... Nervous system disease hsa04080 Neuroactive ligand-receptor interaction
hsa04725 Cholinergic synapse
H00808 Idiopathic generalized epilepsies Idiopathic generalized epilepsies (EIG) are the most common types of epilepsy in childhood and adolescence. Based on the main seizure type and age at onset, four classic subsyndromes exist: childhood absence ... Nervous system disease hsa04727 GABAergic synapse
hsa04010 MAPK signaling pathway
H00809 Familial epilepsy temporal lobe (ETL) Autosomal dominant lateral temporal epilepsy (ADLTE) or autosomal dominant partial epilepsy with auditory features (ADPEAF) is an inherited epilepsy syndrome characterized by onset in adolescence or early ... Nervous system disease
H00810 Progressive myoclonic epilepsy Progressive myoclonic epilepsy (EPM) is a syndrome complex characterized by progressive myoclonus, cognitive impairment, ataxia, and other neurologic deficits. PME is a disease that afflicts previously ... Nervous system disease
H00811 Distal arthrogryposis Distal arthrogryposis (DA) are a distinct group of syndromes with congenital contractures primarily involving the hands and feet, which often are associated with abnormal facies. To date, 10 different ... Congenital malformation hsa04260 Cardiac muscle contraction
hsa04530 Tight junction
H00812 Trichomoniasis Trichomoniasis is the most common curable sexually transmitted infection caused by a motile flagellate protozoan parasite. Women with trichomoniasis have a wide spectrum of symptoms, ranging from a relatively ... Infectious disease
H00813 Laryngo onycho cutaneous syndrome Laryngo onycho cutaneous syndrome is an epithelial disorder characterized by cutaneous erosions at elbows, knees and digits and formation of granulation tissue of the larynx and conjunctiva. The multisystem ... Congenital malformation hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
H00814 Vitelliform macular dystrophy Vitelliform macular dystrophy is characterized by autosomal dominant inheritance and autofluorescent deposits within and beneath the retinal pigment epithelium. The onset of Juvenile vitelliform macular ... Nervous system disease
H00815 H syndrome
Hyperpigmentation, cutaneous, with hypertrichosis, hepatosplenomegaly, heart anomalies, hearing loss, and hypogonadism
The H syndrome is an autosomal-recessive condition characterized by the association of cutaneous hyperpigmentation, hypertrichosis, hepatosplenomegaly, heart anomalies, sensorineural hearing loss, hypogonadism ... Other disease
H00816 Agenesis of the corpus callosum with peripheral neuropathy Agenesis of the corpus callosum with peripheral neuropathy (ACCPN) is a severe neurodegenerative disorder that is transmitted as an autosomal recessive trait. It is associated with mental retardation, ... Nervous system disease
H00817 Branchiooculofacial syndrome Branchiooculofacial syndrome (BOFS) is an autosomal dominant condition characterized by branchial cleft sinus defects associated with rotated auricles with stenotic auditory canals and conductive hearing ... Congenital malformation
H00818 Birt-Hogg-Dube syndrome Birt-Hogg-Dube syndrome is an autosomal dominant condition characterized by skin fibrofolliculomas, multiple pulmonary cysts, and renal cancer. Skin lesions usually appear after the age of 20 years with ... Other disease hsa04150 mTOR signaling pathway
H00819 Stargardt disease
Fundus flavimaculatus
Stargardt disease (STGD) is the most common type of hereditary macular dystrophy. It is characterized by decreased central vision, atrophy of the macula and underlying retinal pigment epithelium (RPE) ... Nervous system disease hsa02010 ABC transporters
hsa00062 Fatty acid elongation
hsa01040 Biosynthesis of unsaturated fatty acids
H00820 Bjornstad syndrome Bjornstad syndrome is an autosomal recessive combination of congenital sensorineural hearing loss and pili torti. It is caused by mutations in BCS1L encoding a protein that is necessary for the assembly ... Congenital disorder of metabolism
H00821 Age-related macular degeneration Macular degeneration is the physical breakdown of the central portion of the retina called the macula. Age-related macular degeneration (AMD/ARMD) is the leading cause of blindness. AMD is a complex disease ... Nervous system disease hsa04610 Complement and coagulation cascades
H00822 Renal hypodysplasia and aplasia Renal hypodysplasia and aplasia (RHDA) is a heterogeneous condition encompassing a spectrum of kidney development defects including renal agenesis, hypoplasia, and (cystic) dysplasia. Heterozygous mutations ... Congenital malformation
H00823 ABCD syndrome ABCD syndrome is defined as albinism, black lock, cell migration disorder of the neurocytes of the gut, and deafness. It is inherited as an autosomal recessive trait. Other disease hsa04020 Calcium signaling pathway
hsa04080 Neuroactive ligand-receptor interaction
hsa04916 Melanogenesis
H00824 Calcification of joints and arteries Calcification of joints and arteries is a condition in which calcifications of the lower-extremity arteries and articular capsules of hand and foot occur. Affected individuals harbor mutations in NT5E ... Developmental disorder; Cardiovascular disease hsa00230 Purine metabolism
hsa00240 Pyrimidine metabolism
hsa00760 Nicotinate and nicotinamide metabolism
hsa01100 Metabolic pathways
H00825 Familial flecked retina syndrome The flecked retina syndrome is characterized by multiple deep, yellow to yellowish white fundus lesions of variable size and shape in eyes without vascular or optic nerve disease. Originally this group ... Nervous system disease hsa00830 Retinol metabolism
hsa04744 Phototransduction
H00826 Blepharophimosis-ptosis-epicanthus inversus syndrome Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare autosomal dominant disease. The cardinal feature of this disease is a complex eyelid/ocular malformation such as blepharophimosis, ... Congenital malformation
H00827 Brooke-Spiegler syndrome Brooke-Spiegler syndrome is an inherited disease characterized by multiple tumors of tissues derived from folliculo-sebaceous-apocrine unit, including cylindromas, trichoepitheliomas, and/or spiradenomas ... Skin and connective tissue disease hsa04622 RIG-I-like receptor signaling pathway
H00828 Familial cylindromatosis Familial cylindromatosis is a rare, autosomal dominant disorder characterized by the development of multiple benign tumors originating from the skin appendages. It is linked to CYLD gene, whose loss of ... Skin and connective tissue disease
H00829 Multiple familial trichoepithelioma Multiple familial trichoepithelioma is a benign epidermal tumor characterized by grouped nodules and papules on the face. The lesions are derived from immature hair follicles. It is inherited in autosomal ... Skin and connective tissue disease
H00830 Alveolar capillary dysplasia with misalignment of pulmonary veins Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) is a rare developmental lung disorder of neonates that can cause persistent pulmonary hypertension of the neonate (PPHN) ... Respiratory disease
H00831 Primary dystonia Dystonias are a heterogeneous group of hyperkinetic movement disorders characterized by involuntary sustained muscle contractions that lead to abnormal postures and repetitive movements. Presently, 20 ... Nervous system disease hsa00350 Tyrosine metabolism
hsa00790 Folate biosynthesis
hsa04260 Cardiac muscle contraction
hsa04728 Dopaminergic synapse
hsa04976 Bile secretion
hsa04920 Adipocytokine signaling pathway
H00832 Core neuroacanthocytosis syndromes Neuroacanthocytosis (NA) syndromes are a heterogeneous group of diseases in which nervous system abnormalities coincide with red blood cell acanthocytosis. Core NA syndromes are one of the broad groups ... Nervous system disease hsa00770 Pantothenate and CoA biosynthesis
H00833 Neurodegeneration with brain iron accumulation Neurodegeneration with brain iron accumulation (NBIA) is a group of progressive extrapyramidal and cognitive disorders characterized by iron accumulation predominantly in the globus pallidus, as well as ... Nervous system disease hsa00770 Pantothenate and CoA biosynthesis
H00834 Guanidinoacetate methyltransferase deficiency Guanidinoacetate methyltransferase (GAMT) deficiency is an autosomal recessive inborn error of creatine biosynthesis caused by a deficiency of hepatic guanidinoacetate methyltransferase, resulting in a ... Inherited metabolic disease hsa00260 Glycine, serine and threonine metabolism
hsa00330 Arginine and proline metabolism
H00835 Succinic semialdehyde dehydrogenase deficiency
4-Hydroxybutyric aciduria
Succinic semialdehyde dehydrogenase (SSADH) deficiency, also known as 4-hydroxybutyric aciduria (4-HBA), is an autosomal recessive inborn error of metabolism. Clinical features include intellectual disability ... Inherited metabolic disease hsa00250 Alanine, aspartate and glutamate metabolism
hsa00650 Butanoate metabolism
H00836 GLUT1 deficiency syndrome
Glucose transport defect of the blood-brain barrier
GLUT1 deficiency syndrome (GLUT1DS) is an autosomal dominant or recessive inborn error of glucose transport across the blood-brain barrier. The majority of patients carry mutations in the SLC2A1 gene encoding ... Nervous system disease hsa04976 Bile secretion
hsa04920 Adipocytokine signaling pathway
H00837 Leber congenital amaurosis Leber congenital amaurosis (LCA) is a heterogeneous group of severe retinal degenerations, which typically becomes evident in the first year of life. Affected infants have little or no retinal photoreceptor ... Nervous system disease hsa00230 Purine metabolism
hsa00830 Retinol metabolism
hsa04744 Phototransduction
H00838 Congenital fibrosis of the extraocular muscles Congenital fibrosis of the extraocular muscles (CFEOM) describes a group of rare congenital eye movement disorders that result from the dysfunction of all or part of the oculomotor (CN 3) and the trochlear ... Nervous system disease hsa04145 Phagosome
hsa04540 Gap junction
H00839 Porencephaly Porencephaly is a rare disease of central nervous system characterized by the existence of degenerative cavities filled with cerebrospinal fluid in the brain. It is probably caused by perinatal intracerebral ... Congenital malformation hsa04510 Focal adhesion
hsa04512 ECM-receptor interaction
H00840 Band-like calcification with simplified gyration and polymicrogyria
Pseudo-TORCH syndrome
Band-like calcification with simplified gyration and polymicrogyria (BLC-PMG) is a rare neurological disorder characterized by intracranial calcification and polymicrogyria. This combination is usually ... Nervous system disease hsa04514 Cell adhesion molecules
hsa04530 Tight junction
hsa04670 Leukocyte transendothelial migration
H00841 Infantile progressive bulbar palsy Infantile progressive bulbar palsy is a rare neurological disorder that occurs in children. Infantile progressive bulbar palsy presents as following two forms. The Brown-Vialetto-Van Laere syndrome (BVVLS) ... Neurodegenerative disease
H00842 Epidermodysplasia verruciformis Epidermodysplasia verruciformis is a rare genodermatosis characterized by an increased susceptibility to human papillomavirus infection. It appears during childhood with flat wart-like lesions and pityriasis ... Skin and connective tissue disease
H00843 Hartnup disorder Hartnup disorder is an autosomal recessive defect of neutral amino acid transport in kidney and intestine accompanied by the symptoms including pellagra-like photo-sensitive skin rash, cerebellar ataxia ... Inherited metabolic disease hsa04974 Protein digestion and absorption
hsa04978 Mineral absorption
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