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| Entry | Name | Description | Category | Pathway |
|---|---|---|---|---|
| H01446 | Propionibacterium acnes infection | The anaerobic Gram-positive bacterium Propionibacterium acnes which forms part of the normal resident human microbiota of the skin, oral cavity, and gastrointestinal and genitourinary tracts. The organism ... | Bacterial infectious disease | |
| H01447 | Body dysmorphic disorder | Body dysmorphic disorder (BDD) is a psychiatric disorder in which individuals are preoccupied with imagined defects in their appearance, which are not noticeable or appear slight to others. It is characterized ... | Mental and behavioural disorder | |
| H01448 | Hoarding disorder | Hoarding disorder is characterized by persistent difficulty discarding possessions, regardless of the value others may attribute to these possessions. They accumulate a large number of possessions that ... | Mental and behavioural disorder | |
| H01449 |
Excoriation disorder Skin picking disorder |
Excoriation Disorder, also known as Skin Picking Disorder, is characterized by the repetitive and compulsive scratching or picking of skin, which causes tissue damage. Patients spend a significant amount ... | Mental and behavioural disorder | |
| H01450 | Obsessive-compulsive disorder | Obsessive-compulsive disorder (OCD) is a psychiatric disorder characterized by recurrent, intrusive and disturbing thoughts as well as by repetitive stereotypic behaviors. OCD is a complex disorder and ... | Mental and behavioural disorder | |
| H01451 | Actinomycetoma | Mycetoma is an infectious disease of skin and subcutaneous tissue. It can be caused by either bacteria (actinomycetoma) or fungi (eumycetoma [DS:H02385] ). It is endemic in tropical and subtropical regions ... | Bacterial infectious disease | |
| H01452 | Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infection | Pediatric autoimmune neuropsychiatric disorder associated with streptococcal infections (PANDAS) is an autoimmune disorder presenting with obsessive compulsive disorder (OCD) and/or tics. PANDAS is believed ... | Immune system disease | |
| H01453 | Obsessive-Compulsive and Related Disorder | Obsessive-Compulsive and Related Disorder (OCRD) is a group of disorders that is characterized by having preoccupations (obsessions) and/or repetitive behaviors (compulsions). Previously, Obsessive-compulsive ... | Mental and behavioural disorder | |
| H01454 | Colonic spirochetosis | Colonic spirochetosis (CS) is a disease caused by the Brachyspira genus, Brachyspira aalborgi and Brachyspira pilosicoli. B. pilosicoli induces disease in both humans and animals, whereas B. aalborgi affects ... | Bacterial infectious disease | |
| H01455 | Necrotizing fasciitis | Necrotizing fasciitis (NF) is a severe life-threatening soft tissue infection characterized by rapidly spreading necrosis of the fascia and the subcutaneous tissue. Although more common in adults, NF also ... | Bacterial infectious disease | |
| H01456 | Diabetic nephropathy | Diabetic nephropathy (DN), also called diabetic kidney disease, is a microvascular complication of diabetes that induces dysfunction in various cell types of the kidney, ultimately leading to renal failure ... | Metabolic disease; Endocrine disease; Urinary system disease | |
| H01457 | Diabetic retinopathy | Diabetic retinopathy (DR), one of the most common vascular complication of diabetes, is the leading cause of visual deficits and blindness around the world. The development of DR is divided into two stages: ... | Endocrine and metabolic disease; Nervous system disease | |
| H01458 | Nontuberculous mycobacterial infection | Mycobacteria species other than the obligate pathogens Mycobacterium tuberculosis complex and Mycobacterium leprae are known as nontuberculous mycobacteria (NTM) or atypical mycobacteria. NTM are normal ... | Bacterial infectious disease | |
| H01459 | Diabetic neuropathy | Diabetic neuropathies (DNs) are nerve-damaging disorders caused by diabetes. Diabetic neuropathy broadly comprises generalized symmetric polyneuropathies (acute sensory, chronic sensorimotor, autonomic) ... | Endocrine and metabolic disease; Nervous system disease | |
| H01460 |
West syndrome Infantile spasms |
West syndrome, or infantile spasms (IS), is an infantile epileptic encephalopathy characterized by at least two of the following features: (a) clusters of flexion or extension epileptic spasms, (b) interictal ... | Nervous system disease | |
| H01461 |
Crow-Fukase syndrome POEMS syndrome |
Crow-Fukase syndrome, also called POEMS syndrome, is a rare paraneoplastic syndrome due to an underlying plasma cell neoplasm, characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal ... | Neoplasm | |
| H01462 | Rapidly growing mycobacteria infection | Nontuberculous mycobacteria (NTM) are classified into 2 categories: slow-growing mycobacteria (SGM) and rapidly-growing mycobacteria (RGM), based on interval to colony formation by subculture on solid ... | Bacterial infectious disease | |
| H01463 | Mycosis fungoides | Mycosis fungoides (MF) is the most common type of primary cutaneous T-cell lymphomas (CTCL), which are a heterogeneous group of malignancies derived from skin-homing T cells. MF presents in the skin with ... | Cancer | |
| H01464 | Mantle cell lymphoma | Mantle cell lymphoma (MCL) is a B-cell non-Hodgkin lymphoma (NHL) and it accounts for about 6% of all NHL cases. Diagnosis is based on lymph node, bone marrow, or tissue morphology of centrocytic lymphocytes ... | Cancer | |
| H01465 | Large-vessel vasculitis | Large vessel vasculitis (LVV) covers a spectrum of primary vasculitides predominantly affecting the aorta and its major branches. Giant cell arteritis (GCA) and Takayasu arteritis (TAK) are the two main ... | Immune system disease | |
| H01466 | Ulcerative colitis | Ulcerative colitis (UC) is one subtype of inflammatory bowel disease (IBD) whose pathogenesis is multifactorial and includes influences from genes, the environment, and the gut microbiome. In UC the inflammatory ... | Immune system disease | |
| H01467 |
Primary biliary cholangitis Primary biliary cirrhosis |
Primary biliary cholangitis (PBC), formerly known as primary biliary cirrhosis, is a chronic, progressive cholestatic liver disease characterised by destruction of small intrahepatic bile ducts, eventually ... | Digestive system disease | |
| H01468 |
Eosinophilic granulomatosis with polyangiitis Churg-Strauss syndrome |
Eosinophilic granulomatosis with polyangiitis (EGPA) is a systemic vasculitic disorder of unknown etiology that affects small-to-medium-size blood vessels. This disease has been called Churg-Strauss syndrome ... | Immune system disease | |
| H01469 | Short bowel syndrome | Short bowel syndrome (SBS), also called short gut syndrome or simply short gut, is a malabsorption disorder. It typically occurs in people who lost at least half of their small intestine due to surgical ... | Digestive system disease | |
| H01470 | Giant cell tumor of bone | Giant-cell tumor of bone (GCTB) is a rare osteolytic tumor of the bone. Although classified as a benign tumor, GCTB is characterized by local aggressiveness and risk of local recurrence. Its name is derived ... | Cancer | |
| H01471 | Lymphangioma | Lymphangiomas are congenital malformations of the lymphatic system, which is located mostly on the head and neck region. The lesions consist of dilated endothelium-lined spaces that vary in size from microscopic ... | Neoplasm | |
| H01472 | Multidrug-resistant tuberculosis | Multi-drug-resistant tuberculosis is generally defined as infection with M. tuberculosis strains that are resistant to isoniazid and rifampin, the first-line antibiotics for treating tuberculosis. Drug-resistant ... | Bacterial infectious disease | |
| H01473 | Erythema nodosum leprosum | Reactional states of leprosy are expressions of immunological disturbance and are generally divided into two variants: type 1 (Jopling's type I or reversal reaction) and type 2 (Jopling's type II reaction) ... | Bacterial infectious disease | |
| H01474 |
Acquired generalized lipodystrophy Lawrence syndrome |
Acquired generalized lipodystrophy (AGL), also called the Lawrence syndrome, is one subtype of acquired lipodystrophy caused by autoimmune disease, panniculitis or idiopathic. The disorder appears during ... | Inherited metabolic disorder | |
| H01475 |
Lipodystrophy Lipoatrophy |
Lipodystrophies are a group of rare disorders characterized by selectively loss of fat tissue, which can be congential or acquired, and generalized or partial. People with the diseases more frequently ... | Inherited metabolic disorder | |
| H01476 |
Behcet disease Behcet syndrome |
Behcet disease is a multisystemic inflammatory disease characterized by relapsing episodes of oral aphthous ulcers, genital ulcers, other skin lesions, and uveitis. It can also involve visceral organs ... | Immune system disease; Skin disease | |
| H01477 | Congenital short bowel syndrome | Congenital short bowel syndrome (CSBS) is an inherited intestinal disorder occurring in newborns and infants. Affected babies typically present a shortened bowel (approximately 50 cm) compared with normal ... | Congenital malformation | |
| H01478 |
Machado-Joseph disease Spinocerebellar ataxia 3 |
Machado-Joseph disease (MJD), also known as spinocerebellar ataxia type 3 (SCA3), is one of the most common hereditary ataxias and is distributed worldwide. MJD is an autosomal dominant neurodegenerative ... | Neurodegenerative disease | |
| H01479 | Castleman disease | Castleman disease is a rare lymphoproliferative disorder with two primary subtypes that vary in presentation and course. Unicentric Castleman disease is localized and carries an excellent prognosis. Multicentric ... | Immune system disease | |
| H01480 |
Idiopathic macular hole Retinal perforations |
Idiopathic macular hole is a common cause of visual impairment in people in their sixth decade or older, with a higher prevalence in females. Although existing theories of macular hole pathogenesis are ... | Nervous system disease | |
| H01481 | Myelodysplastic syndrome | Myelodysplastic syndrome (MDS) is a heterogeneous group of clonal hematologic stem cell disorders characterized by ineffective hematopoiesis resulting in low blood counts, and a risk of progression to ... | Hematologic disease | |
| H01482 | Infantile hemangioma | Infantile hemangiomas (IH) are neoplastic proliferations of vascular endothelial cells (ECs), characterized by a period of growth after birth, and eventual spontaneous involution. Forty percent of the ... | Neoplasm | |
| H01483 | Acromegaly | Acromegaly (ACM) is a disorder characterized by increased circulating GH and IGF-I (a GH-induced liver protein) levels that is associated with significant morbidity and excess mortality. Patients with ... | Endocrine and metabolic disease | |
| H01484 | 5q- syndrome | 5q- syndrome is a subtype of myelodysplastic syndrome (MDS) characterized by bone marrow erythroid hyperplasia, atypical megakaryocytes, thrombocythemia, refractory anemia, and low risk of progression ... | Hematologic disease | |
| 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 |
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