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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01485 | Autosomal recessive mental retardation-42 | Autosomal recessive mental retardation-42 (MRT42) is a neurodevelopmental disorder. Clinic features are variable and include neonatal hypotonia, severe intellectual disability, and major and absence epilepsy ... | Inherited metabolic disorder | |
| H01486 | Multiple congenital anomalies-hypotonia-seizures syndrome | The Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome (MCAHS) comprises three phenotypes caused by mutations in PIGN, PIGA and PIGT respectively. PIGN and PIGT mutations lead to autosomal recessive ... | Inherited metabolic disorder | |
| H01487 |
CHIME syndrome Coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome Zunich neuroectodermal syndrome |
CHIME syndrome (coloboma, congenital heart disease, ichthyosiform dermatosis, mental retardation, and ear anomalies syndrome), also known as Zunich neuroectodermal syndrome, is an autosomal recessive disorder ... | Inherited metabolic disorder | |
| H01488 |
Hyperphosphatasia with mental retardation syndrome Mabry syndrome |
Hyperphosphatasia with mental retardation syndrome (HPMRS), also known as Mabry syndrome, is an autosomal recessive disorder comprising intellectual disability and elevated levels of serum alkaline phosphatase ... | Inherited metabolic disorder | |
| H01489 |
Inherited glycosylphosphatidylinositol deficiencies Glycosylphosphatidylinositol biosynthesis deficiency |
Inherited glycosylphosphatidylinositol biosynthesis deficiency (GPIBD) is a group of glycosylation disorders, which result from mutation in genes involved in the biosynthesis of GPI anchors. Mutations ... | Inherited metabolic disorder | |
| H01490 | Multiple sclerosis | Multiple Sclerosis (MS) is a chronic disease of the central nervous system (CNS) characterized by inflammation, demyelination and axonal loss. This disease typically strikes young adults, especially women ... | Immune system disease | |
| H01491 |
Neuromyelitis optica Devic disease |
Neuromyelitis optica (NMO), also known as Devic's disease is an inflammatory demyelinating disease that selectively affects optic nerves and spinal cord. The etiology of NMO is unknown but it is believed ... | Immune system disease | |
| H01492 |
Systemic sclerosis Systemic scleroderma |
Systemic sclerosis (scleroderma) is an autoimmune disease that is characterized by fibrosis of the skin and major internal organs. The core symptoms of this disease are Raynaud's phenomenon, skin thickening ... | Immune system disease; Skin disease | |
| H01493 |
Localized Scleroderma Morphea |
Localized scleroderma, also known as morphea, is a rare fibrosing disorder of the skin and underlying tissues. Sclerosis is mainly limited to the skin, but subcutaneous tissue, fascia, and underlying muscles ... | Immune system disease; Skin disease | |
| H01494 | SEMD with joint laxity type | Spondyloepimetaphyseal dysplasia with joint laxity type (SEMD-JL) is an autosomal recessive skeletal dysplasia that consists of type 1 (SEMDJL1, SEMD-JL Beighton type) and type 2 (SEMDJL2, SEMD-leptodactylic ... | Congenital malformation | |
| H01495 | Meniere disease | Meniere disease is an inner ear disorder characterized by episodic vertigo attacks, sensorineural hearing loss, tinnitus, and aural fullness. Prevailing theories on its pathogenesis point to endolymphatic ... | Nervous system disease | |
| H01496 | Spondyloocular syndrome | Spondyloocular syndrome (SOS) is a rare autosomal recessive disorder due to mutations in the XYLT2 gene. XYLT2 encodes one of the xylosyltransferases involved in proteoglycan biosynthesis. The affected ... | Congenital malformation | |
| H01497 | Temtamy preaxial brachydactyly syndrome | Temtamy preaxial brachydactyly syndrome (TPBS) is an autosomal recessive rare disorder that is caused by the mutations in the CHSY1 gene. CHSY1 encodes chondroitin synthase 1 involving in the biosynthesis ... | Congenital malformation | |
| H01498 |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Larsen-like syndrome |
Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects (JDSSDHD), also termed Larsen-like syndrome, is an autosomal recessive disease that is caused by the mutations ... | Inherited metabolic disorder | |
| H01499 | Sporotrichosis | Sporotrichosis is an endemic mycosis in tropical and subtropical areas caused by Sporothrix schenckii which is a common saprophyte of soil, decaying wood, hay and sphagnum moss. S. schenckii usually causes ... | Fungal infectious disease | |
| H01500 | Lupus nephritis | Lupus nephritis is a severe organ manifestation of systemic lupus erythematosus (SLE) that can affect up to 70% of the SLE population. In childhood SLE, nephritis is present in up to 90% of the cases. ... | Immune system disease | |
| H01501 | Blastomycosis | Blastomycosis is a fungal infection caused by the organism Blastomyces dermatitidis, which is a dimorphic fungus that grows as a filamentous mold in the environment and as budding yeast in human tissue ... | Fungal infectious disease | |
| H01502 | Sjogren syndrome | Sjogren Syndrome (SS) is a chronic inflammatory systemic autoimmune disease characterized by lymphocytic infiltration of the exocrine glands leading to sicca symptoms of the eyes and mouth. Several systemic ... | Immune system disease | |
| H01503 | Zygomycosis | The class Zygomycetes is divided into two orders, Mucorales and Entomophthorales. These two orders produce different infections. Genera from the order Mucorales cause an angioinvasive infection called ... | Fungal infectious disease | |
| H01504 |
Vogt-Koyanagi-Harada syndrome Vogt-Koyanagi-Harada disease Uveomeningoencephalitic syndrome |
Vogt-Koyanagi-Harada syndrome (VKHS), initially described as an uveomeningoencephalitic syndrome, is a rare systemic autoimmune disease that targets melanocyte-rich tissues, such as the eye, inner ear ... | Immune system disease; Nervous system disease | |
| H01505 | Inclusion body myositis | Inclusion body myositis (IBM) is the most frequent acquired myopathy after age 45. It is distinguished from other inflammatory myopathies by its selective pattern of muscle involvement and slowly progressive ... | Nervous system disease; Musculoskeletal disease | |
| H01506 |
Hepatic encephalopathy Hepatic coma |
Hepatic encephalopathy (HE) is a brain dysfunction caused by liver insufficiency or portal systemic shunting. HE most commonly occurs in decompensated liver cirrhosis and incorporates a spectrum of manifestations ... | Nervous system disease; Digestive system disease | |
| H01507 | Seronegative arthritis | Seronegative spondyloarthropathies (SpA) represent a group of chronic articular inflammatory diseases which differ from rheumatoid arthritis for the typical absence of rheumatoid factor in serum, and have ... | Immune system disease | |
| H01508 | Salivary gland cancer | Salivary gland carcinomas are rare tumours representing about 0.5% of all malignancies and less than 5 % of all head and neck cancers. These are a heterogeneous group of tumors that include 24 histologically ... | Cancer | |
| H01509 | Tonsillar cancer | Tonsillar cancer (TC) is the most common oropharyngeal cancer and tumours are mainly squamous cell carcinomas. Traditionally, risk factors for the development of TC include the use of alcohol and/or tobacco ... | Cancer | |
| H01510 |
Malignant paraganglioma Pheochromocytoma |
Paragangliomas (PGLs) are rare neuroendocrine tumors that arise in sympathetic and parasympathetic paraganglia and derive from neural crest cells. Malignancy is defined by presence of metastases, tumor ... | Cancer | |
| H01511 | Mast-cell leukemia | Mast cell leukemia (MCL), the leukemic manifestation of systemic mastocytosis (SM), is characterized by leukemic expansion of immature mast cells (MCs) in the bone marrow (BM) and other internal organs; ... | Cancer | |
| H01512 | Langerhans cell histiocytosis | Langerhans cell histiocytosis (LCH) is a rare histiocytic disorder characterized by a clonal proliferation of specialized cells with characteristics resembling antigen-presenting cells that reside in the ... | Cancer | |
| H01513 | Retinoblastoma | The retinoblastoma is an eye tumor of childhood that arises in the retina and represents the most common intraocular malignancy of infancy and childhood. Tumor formation usually begins with mutation in ... | Cancer | |
| H01514 | Landau-Kleffner syndrome | Landau-Kleffner syndrome (LKS) is an epileptic encephalopathy that usually manifests itself in children aged 3-8 years with previously normal development. All LKS patients have abnormal EEG that is compatible ... | Nervous system disease | |
| H01515 |
Scarlet fever Scarlatina |
Scarlet fever, also called scarlatina, is caused by Streptococcus pyogenes (GroupA Streptococcus, GAS). The important diagnostic signs of scarlet fever include fever, sore throat, rash and bright red tongue ... | Bacterial infectious disease | |
| H01516 |
Adult onset Still disease Adult Still disease |
Adult-onset Still disease (AOSD) is a systemic inflammatory disorder. The disease manifestations are protean ranging from high fever, arthralgia, skin rash, sore throat, lymphadenopathy, and hepatosplenomegaly ... | Immune system disease | |
| H01517 | Erysipelas | Streptococcus pyogenes (group A Streptococcus) is the usual etiologic agent of erysipelas. Symptoms and signs of erysipelas are chills, fever, a well-demarcated, erythematous, indurated, rapidly spreading ... | Bacterial infectious disease | |
| H01518 |
Lobomycosis Lobo disease Lacaziosis |
Lobomycosis, also known as Lobo disease or lacaziosis, is a chronic, granulomatous and cutaneous-subcutaneous infection that primarily occurs in tropical climates of Latin America. It is a zoonotic disease ... | Fungal infectious disease | |
| H01519 | Scabies | Scabies is a disease caused by the ectoparasitic mite Sarcoptes scabiei. Scabies is a contagious cutaneous inflammation and common among many different species of animals. S. scabiei burrows into the skin ... | Parasitic infectious disease | |
| H01520 |
Chromomycosis Chromoblastomycosis |
Chromomycosis, also known as Chromoblastomycosis, is a chronic fungal infection of the skin and the subcutaneous tissue caused by a transcutaneous traumatic inoculation of a specific group of dematiaceous ... | Fungal infectious disease | |
| H01521 |
Pneumocystis pneumonia Pneumocystis carinii pneumonia |
Pneumocystis pneumonia (PCP) is an infectious disease caused by Pneumocystis jirovecii that belongs to the genus Pneumocystis. Members of the genus Pneumocystis are unicellular, eukaryotic organisms that ... | Fungal infectious disease | |
| H01522 | Zollinger-Ellison syndrome | Zollinger-Ellison syndrome (ZES) is a rare endocrinopathy caused by tumors of the pancreas and duodenum. These tumors, called gastrinomas, release gastrin to produce large amounts of acid that result in ... | Endocrine and metabolic disease | |
| H01523 | Wiskott-Aldrich syndrome | The Wiskott-Aldrich syndrome (WAS) is a rare X-linked recessive immunodeficiency disorder, caused by mutations in the Wiskott-Aldrich syndrome protein (WASP) gene, and characterised by thrombocytopenia ... | Immune system disease | |
| H01524 | DiGeorge syndrome | DiGeorge syndrome (DGS) is a primary immunodeficiency disease characterized by dysgenesis of the thymus and parathyroid glands, conotruncal cardiac anomalies, and other dysmorphic features. This syndrome ... | Primary immunodeficiency |
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