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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01284 | Marinesco-Sjogren syndrome | Marinesco-Sjogren syndrome is an autosomal recessive multisystem disorder which is characterized by cerebellar ataxia, progressive myopathy and cataracts. Mutations in the endoplasmic reticulum associated ... | Nervous system disease | |
| H01285 | Methylcobalamin deficiency type G | Methylcobalamin deficiency type G (cblG) is an autosomal recessive disease characterized by homocystinuria, hyperhomocysteinemia, and hypomethioninemia. Mutations in the MTR gene, which encodes methionine ... | Inherited metabolic disorder | |
| H01286 | Microtia hearing impairment and cleft palate | Microtia is a congenital anomaly of the ear characterized by a small abnormally shaped outer ear. It is often associated with hearing loss. Syndromic form of microtia occurs in conjunction with other abnormalities ... | Congenital malformation | |
| H01287 | Congenital mirror movements | Mirror movements (MRMV) are involuntary movements of one side of the body that mirror intentional movements on the opposite side. While mirror movements are occasionally found in young children, persistence ... | Nervous system disease | |
| H01288 | Mosaic variegated aneuploidy syndrome | Mosaic variegated aneuploidy syndrome (MVA) is a rare autosomal recessive disorder characterized by mosaic aneuploidies, diverse phenotypic abnormalities and predisposition to cancer. MVA is due to defective ... | Chromosomal abnormality | |
| H01289 | Mulibrey nanism | Mulibrey nanism is an autosomal recessive growth disorder characterized by prenatal-onset growth failure and heart disease involving constrictive pericarditis and restrictive cardiomyopathy. Mutations ... | Congenital malformation | |
| H01290 | Acute recurrent myoglobinuria | Acute recurrent myoglobinuria is caused by inborn errors of glycogenolysis, mitochondrial fatty acid beta-oxidation, and oxidative phosphorylation. It has been reported that mutations in LPIN1 cause recurrent ... | Inherited metabolic disorder | |
| H01291 |
Spheroid body myopathy Myofibrillar myopathy 3 |
Spheroid body myopathy (SBM) is a rare autosomal dominant neuromuscular disorder characterized by slowly progressing proximal muscle weakness and dysarthric nasal speech. The unique feature noted pathologically ... | Nervous system disease; Musculoskeletal disease | |
| H01292 | Nance-Horan syndrome | Nance-Horan syndrome (NHS) is an X-linked developmental disorder characterized by congenital cataract, dental anomalies, facial dysmorphism and, in some cases, mental retardation. Mutations in NHS gene ... | Congenital malformation | |
| H01293 | Narcolepsy | Narcolepsy is a disabling sleep disorder characterized by irresistible excessive daytime sleepiness and cataplexy, a condition triggered by strong emotions leading to a sudden loss of muscle tone. Narcolepsy ... | Nervous system disease | |
| H01294 | Nephrogenic syndrome of inappropriate antidiuresis | Nephrogenic syndrome of inappropriate antidiuresis (NSIAD) is a disorder of water balance caused by gain of function mutation of arginine vasopressin receptor type 2 (AVPR2) resulting in free water reabsorption ... | Endocrine and metabolic disease | |
| H01295 | Neurodegeneration due to cerebral folate transport deficiency | Neurodegeneration due to cerebral folate transport deficiency is an autosomal recessive disorder of brain specific folate deficiency, characterized by severe developmental regression, movement disturbances ... | Neurodegenerative disease | |
| H01296 | Hereditary neuropathy with liability to pressure palsies | Hereditary neuropathy with liability to pressure palsy (HNPP) is a rare autosomal dominant peripheral neuropathy characterized by compressive focal neuropathies and an underlying sensorimotor demyelinative ... | Nervous system disease | |
| H01297 | Neutral lipid storage disease with myopathy | Neutral lipid storage disease with myopathy (NLSDM) comprises a heterogeneous group of autosomal recessive disorders characterized by systemic accumulation of triglycerides in cytoplasmic droplets. Neutral ... | Inherited metabolic disorder | |
| H01298 | Pulmonary alveolar microlithiasis | Pulmonary alveolar microlithiasis (PALM) is a rare disease characterized by the deposition of calcium phosphate microliths throughout the lungs. Most patients are asymptomatic for several years, and cases ... | Respiratory system disease | |
| H01299 | Idiopathic pulmonary fibrosis | Idiopathic pulmonary fibrosis is a scarring lung disease that presents in older adults with shortness of breath and cough. Mutations in surfactant protein C (SFTPC), surfactant protein A (SFTPA), telomerase ... | Respiratory system disease | |
| H01301 | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts | Hemorrhagic destruction of the brain, subependymal calcification, and cataracts (HDBSCC) is an autosomal-recessive syndrome with severe hemorrhagic destruction of the brain as a cardinal feature. A mutation ... | Nervous system disease | |
| H01302 | Hyperchlorhidrosis isolated (HCHLH) | Hyperchlorhidrosis is excessive chloride secretion in sweat. Abnormal sweat chloride levels is found also in conjunction with various metabolic, endocrine, and dermatological disorders. Hyperchlorhidrosis ... | Inherited metabolic disorder | |
| H01303 |
Hypercatabolic hypoproteinemia Immunodeficiency 43 |
Hypercatabolic hypoproteinemia is a disorder of endogenous catabolism of albumin and immunoglobulin. FcRn is a heterodimeric receptor composed of a nonclassical MHC class I alpha-chain and beta-2-microglobulin ... | Hematologic disease | |
| H01304 | Hyperglycinuria | Hyperglycinuria (HG) is an autosomal recessive abnormality of renal transport of glycine, resulting from mutations in genes encoding proline and glycine transporters. | Urinary system disease | |
| H01305 |
Global cerebral hypomyelination Early infantile epileptic encephalopathy 39 |
Global cerebral hypomyelination is a syndrome characterized by arrested psychomotor development, hypotonia, and seizures. A missense mutation in the SLC25A12, which encodes the AGC1 protein, causes this ... | Inherited metabolic disorder, Mitochondrial disease | |
| H01306 | FRA12A mental retardation | FRA12A mental retardation is a rare form of mental retardation caused by expansion of CGG repeat. This repeat is in the 5' untranslated region of the gene DIP2B. It has been suggested that deficiency of ... | Mental and behavioural disorder | |
| H01307 | Nonsyndromic congenital nail disorder | Nonsyndromic congenital nail disorder (NDNC) is rare and has been reported in only a small number of families. There is a variable expression of nail phenotypes among individuals. It has been identified ... | Skin disease | |
| H01308 | Macrocephaly macrosomia facial dysmorphism syndrome | Macrocephaly macrosomia facial dysmorphism syndrome is characterized by overgrowth, learning disability, and dysmorphic features. Mutations in RNF135 cause this syndrome. | Congenital malformation | |
| H01309 | Sarcoidosis | Sarcoidosis is a multisystem disease characterized by granulomatous inflammation throughout the body afflicting different organ systems. Pulmonary complaints are most common, however, cardiac, optic, and ... | Immune system disease | |
| H01310 |
Multi-minicore disease Multicore myopathy with external ophthalmoplegia Rigid spine syndrome (RSS) |
Multi-minicore Disease (MmD) is a recessively inherited neuromuscular disorder characterized by multiple cores on muscle biopsy and clinical features of a congenital myopathy. It is morphologically defined ... | Nervous system disease; Musculoskeletal disease | |
| H01311 | Enteroinvasive Escherichia coli (EIEC) infection | Enteroinvasive Escherichia coli (EIEC) infection is common in developing countries and comparatively rare in developed countries. EIEC invades intestinal epithelial cells, causing necrosis, ulceration ... | Bacterial infectious disease | |
| H01312 | Enteroaggregative Escherichia coli (EAEC) infection | Enteroaggregative Escherichia coli (EAEC or EAggEC) infection is a cause of traveler's diarrhea and persistent watery diarrhea in young children and patients infected with HIV. EAEC adheres to the small ... | Bacterial infectious disease | |
| H01313 |
Escherichia coli meningitis Neonatal meningitis-associated Escherichia coli (NMEC) infection |
Escherichia coli meningitis is a bacterial meningitis caused by Escherichia coli, and is common in the newborn within the first month of life (neonatal meningitis). Neonatal meningitis-associated Escherichia ... | Bacterial infectious disease | |
| H01314 |
Rat-bite fever Haverhill fever |
Rat-bite fever is a systemic febrile zoonotic illness caused by either Streptobacillus moniliformis, common in Western countries, or Spirillum minus, which is the most prevalent pathogen in Asia. It is ... | Bacterial infectious disease | |
| H01315 |
Erysipeloid Swine erysipelas |
Erysipelothrix rhusiopathiae is a non-sporulating, gram-positive, rod-shaped bacterium which was identified as the etiologic agent of swine erysipelas. Infection in man is occupationally related, occurring ... | Bacterial infectious disease | |
| H01316 |
Dermatophytosis Ringworm |
Dermatophytosis (tinea, ringworm) is an infection of keratinized structures, such as the hair, skin or nails caused by dermatophyte fungi of the genera Trichophyton, Epidermophyton or Microsporum. Tinea ... | Fungal infectious disease | |
| H01317 | Aggressive periodontitis | Aggressive periodontitis is a disease of the periodontium occurring in an otherwise healthy adolescent, which is characterized by a rapid loss of alveolar bone around more than one tooth of the permanent ... | Bacterial infectious disease | |
| H01318 | Yaws | Treponemal infections occurring in humans comprise venereal syphilis and the non-venereal endemic treponematoses. The non-venereal endemic treponematoses are yaws, pinta, and endemic syphilis. Yaws is ... | Bacterial infectious disease | |
| H01319 |
Coccidioidomycosis Valley fever |
Coccidioides immitis and C. posadasii are two endemic dimorphic fungal pathogens that cause coccidioidomycosis, also called valley fever, and are found in the southwestern United States and northern Mexico ... | Fungal infectious disease | |
| H01320 | Epidemic keratoconjunctivitis | Epidemic keratoconjunctivitis (EKC) is a highly contagious and severe form of eye disease caused by human adenoviruses (HAdVs). There are two well-defined adenoviral keratoconjunctivitis clinical syndromes: ... | Viral infectious disease | |
| H01321 | Pneumococcal disease | Pneumococcal disease (PD) is infectious disease caused by Streptococcus pneumoniae (pneumococcus). PD is particularly common in younger children and in older adults and is roughly divided into invasive ... | Bacterial infectious disease | |
| H01322 | Kyasanur Forest disease | Kyasanur Forest disease is a viral hemorrhagic fever caused by Kyasanur Forest disease virus (KFDV), a flavivirus in the Flaviviridae family of +ssRNA viruses, and transmitted by Ixodoidea ticks. KFDV ... | Viral infectious disease | |
| H01323 | Enteritis due to Norovirus | Enteritis due to Norovirus is a major nonbacterial gastroenteritis worldwide. Norovirus is one of five genera of the family Caliciviridae of +ssRNA viruses. Human norovirus, previously known as Norwalk ... | Viral infectious disease | |
| H01324 | Lymphocytic choriomeningitis | Lymphocytic choriomeningitis (LCM) is an infectious disease caused by Lymphocytic choriomeningitis virus (LCMV), an arenavirus in the Arenaviridae family of -ssRNA viruses, and transmitted by rodents. ... | Viral infectious disease |
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