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| Entry | Name | Description | Category | Pathway | Gene |
|---|---|---|---|---|---|
| H01641 |
Dry eye disease Keratoconjunctivitis sicca |
... However, mixed forms are common. Aqueous insufficiency is divided into two main groups: Sjogren's syndrome-related dry eye and non-Sjogren's syndrome-related dry eye. Dry eye in Sjogren's syndrome (an autoimmune ... | Nervous system disease | ||
| H01645 |
Hyperthyroidism Thyrotoxicosis |
... thyroiditis, post-partum thyroiditis, or subacute painful thyroiditis, the destruction of thyrocytes leads to release of preformed hormones into the circulation. Drug-induced thyrotoxicosis has the same pathogenic ... | Endocrine and metabolic disease | ||
| H01647 |
Subacute thyroiditis Subacute granulomatous thyroiditis De Quervain thyroiditis |
... with antithyroid drugs is not indicated in patients with SAT because this disorder is caused by the release of preformed thyroid hormone rather than synthesis of new T3 and T4. Therapy with beta blockers ... | Endocrine and metabolic disease | ||
| H01650 | Pemphigoid | ... family protein BP230. Most of these antibodies belong to the immunoglobulin G class. Diagnosis of BP relies on the clinical and histological aspects, but the most reliable clues are given by direct and ... | Immune system disease; Skin disease | ||
| H01652 | Seborrheic dermatitis | ... an important role. They cause an inflammatory reaction that seems to be mediated by free fatty acids, released from sebaceous triglycerides by fungal enzymes such as lipases. The lipid layer of Malassezia ... | Immune system disease; Skin disease | ||
| H01657 | Nephrotic syndrome | ... per day), hypoalbuminemia, hyperlipidemia, and edema. Congenital nephrotic syndrome is most frequently related to mutations in genes specific for structural integrity of the glomerular basement membrane and ... | Urinary system disease |
(NPHS1) NPHS1 [HSA:4868] [KO:K24496] (NPHS2) NPHS2 [HSA:7827] [KO:K18268] (NPHS3) PLCE1 [HSA:51196] [KO:K05860] (NPHS4) WT1 [HSA:7490] [KO:K09234] (NPHS5) LAMB2 [HSA:3913] [KO:K06243] (NPHS6) PTPRO [HSA:5800] [KO:K18035] (NPHS7) DGKE [HSA:8526] [KO:K00901] (NPHS8) ARHGDIA [HSA:396] [KO:K12462] (NPHS9) COQ8B [HSA:79934] [KO:K08869] (NPHS10) EMP2 [HSA:2013] [KO:K26256] (NPHS11) NUP107 [HSA:57122] [KO:K14301] (NPHS12) NUP93 [HSA:9688] [KO:K14309] (NPHS13) NUP205 [HSA:23165] [KO:K14310] (NPHS14) SGPL1 [HSA:8879] [KO:K01634] (NPHS15) MAGI2 [HSA:9863] [KO:K05629] (NPHS16) KANK2 [HSA:25959] [KO:K22808] (NPHS17) NUP85 [HSA:79902] [KO:K14304] (NPHS18) NUP133 [HSA:55746] [KO:K14300] (NPHS19) NUP160 [HSA:23279] [KO:K14303] (NPHS20) TBC1D8B [HSA:54885] [KO:K19951] (NPHS21/25) AVIL [HSA:10677] [KO:K08017] (NPHS22) NOS1AP [HSA:9722] [KO:K16513] (NPHS23) KIRREL1 [HSA:55243] [KO:K25874] (NPHS24) DAAM2 [HSA:23500] [KO:K04512] (NPHS26) LAMA5 [HSA:3911] [KO:K06240] |
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| H01660 | Pityriasis rosea | ... other differentials rather than diagnosing PR as the histopathological examination in a case of PR is relatively nonspecific and resembles a subacute or chronic dermatitis. As PR is a self-limiting disorder ... | Skin disease | ||
| H01662 |
Generalized anxiety disorder Anxiety neurosis |
... with those of other mental disorders and we could regard the disorder as part of a spectrum of mood and related disorders rather than an independent disorder. Generalized anxiety disorder has a relapsing course ... | Mental and behavioural disorder | ||
| H01665 | Primary peritoneal carcinoma | ... while peritoneal mixed epithelial carcinoma (MEC) and malignant mixed Mullerian tumor (MMMT) are rarely reported. Germline BRCA1 mutations in 26% of PPSPC patients was detected. BRCA1 mutation carriers ... | Cancer | BRCA1 (mutation) [HSA:672] [KO:K10605] | |
| H01666 | Angiosarcoma | ... derived from vascular endothelial cells, possibly resulting from aberrant angiogenesis. Studies have shown relatively increased expression of vascular endothelial growth factor (VEGF) and its receptors (VEGFr1-3) ... | Cancer |
KRAS (mutation) [HSA:3845] [KO:K07827] HRAS (mutation) [HSA:3265] [KO:K02833] NRAS (mutation) [HSA:4893] [KO:K07828] |
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| H01669 | Secondary hyperparathyroidism | ... calcium and phosphorus homeostasis. After excluding reversible secondary aetiologies, first-line treatment of irreversible SHPT (often related to chronic kidney disease) mainly involves medical therapies. | Endocrine and metabolic disease | ||
| H01671 |
Neurosis Neurotic disorder |
... disorders regarded as neurosis remained together but under the division of rubric 'neurotic, stress-related and somatoform disorders'. In the Diagnostic and Statistical Manual of Mental Disorders, Fourth ... | Mental and behavioural disorder | ||
| H01672 | Juvenile idiopathic arthritis | ... JIA, oligoarthritis, RF-negative polyarthritis, RF-positive polyarthritis, psoriatic JIA, enthesitis- related arthritis, and undifferentiated arthritis. Systemic JIA, also known as Still's disease, is a ... | Immune system disease |
IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810] |
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| H01675 | Syringomyelia | ... into three subgroups. (1) Syringomyelia as a result of changed cerebrospinal fluid (CSF) flow dynamics related to hindbrain disorders, e.g. Chiari malformation, Dandy-Walker syndrome, arachnoiditis or osseous ... | Congenital malformation | ||
| H01683 | Disorders of antidiuretic hormone (ADH) secretion | ... metabolism can be divided into hyperosmolar disorders, in which there is a deficiency of body water relative to body solute, and hypo-osmolar disorders, in which there is an excess of body water relative ... | Endocrine and metabolic disease | AVPR2 [HSA:554] [KO:K04228] | |
| H01689 |
Fisher syndrome Miller Fisher syndrome |
... syndrome (GBS) and its classical clinical triad consists of ophthalmoplegia, ataxia, and areflexia. It is a relatively rare neurological disorder, accounting for approximately 5% of acute inflammatory polyneuropathies ... | Immune system disease; Nervous system disease | ||
| H01694 |
Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome |
... treatment method for SJS-TEN. Systemic steroids and IVIG are used most frequently in medical treatment and treatment options including cyclosporine, plasmapheresis and hemodialysis are required more rarely. | Immune system disease; Skin disease |
HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751] |
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| H01696 | Subacute sclerosing panencephalitis | ... indicate that it can follow acute measles infection in 1:10,000 cases. The incidence of SSPE is inversely related to measles vaccination coverage. In the developed world, the prevalence of SSPE has steadily ... | Neurodegenerative disease; Viral infectious disease | ||
| H01703 | Eating Disorders | ... nervosa (AN) is the oldest recognized eating disorder. The salient features of this eating disorder are a relentless pursuit of thinness, accompanied by a fear of becoming fat despite being markedly underweight ... | Mental and behavioural disorder | ||
| H01705 | Bilateral sudden sensorineural hearing loss | ... 5 % of all sudden SNHL cases. Unlike unilateral disease, bilateral sudden SNHL appears to be mostly related to serious systemic pathology, and is associated with a more severe degree of hearing loss, poorer ... | Nervous system disease |
ACTG1 [HSA:71] [KO:K05692] CDH23 [HSA:64072] [KO:K06813] COCH [HSA:1690] [KO:K23574] KCNQ4 [HSA:9132] [KO:K04929] TECTA [HSA:7007] [KO:K18273] TMPRSS3 [HSA:64699] [KO:K09634] WFS1 [HSA:7466] [KO:K14020] |
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| H01707 |
Ossified ligamentum flavum Ossification of the yellow ligament |
... phosphate metabolism, on endocrinologic abnormalities, or on the presence of autoimmune disease. Such relationships, however, have not been documented. Treatment of cervical stenosis related to OLF is based ... | Musculoskeletal disease | ||
| H01708 |
Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament |
... genetic factors, environmental factors, drugs, and metabolic conditions have been hypothesized to be relevant. Most of the current theories focus on the pathologic OALL. There's no cure for DISH. Therapy ... | Musculoskeletal disease | ||
| H01711 | Spinal stenosis | ... lumbar spinal stenosis, where patients develop low back or leg pain when walking or standing that is relieved by sitting or lumbar flexion. The treatment of lumbar spinal stenosis generally begins with ... | Musculoskeletal disease | ||
| H01713 | Diffuse panbronchiolitis | ... obvious abnormalities of the sweat electrolytes are seen in DPB, and the two are considered to be entirely different diseases. Immunogenetic studies revealed a strong association with human HLA-B54 in Japanese ... | Respiratory system disease | ||
| H01714 |
Chronic obstructive pulmonary disease (COPD) Emphysema |
... the age of 50 years, irrespective of smoking history. The presence of persons with early onset, severely reduced pulmonary function suggests that individuals may vary in their genetic susceptibility to ... | Respiratory system disease |
SERPINA1 [HSA:5265] [KO:K03984] HMOX1 [HSA:3162] [KO:K00510] MMP1 [HSA:4312] [KO:K01388] |
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| H01716 | Idiopathic interstitial pneumonias | ... interstitium by highly variable combinations of inflammation and fibrosis. Patients experience common symptoms related to their chronic lung disease. Dyspnoea, cough, fatigue and depression contribute substantially ... | Respiratory system disease | ||
| H01718 |
Kawasaki disease Mucocutaneous lymph node syndrome |
... not associated with the production of autoantibodies or the deposition of immune complexes, and it rarely recurs. The disease is believed to result from an aberrant inflammatory response to an infectious ... | Immune system disease | ||
| H01721 |
Anti-glomerular basement membrane (GBM) disease Goodpasture syndrome |
... hemorrhage and renal failure, although the clinical spectrum may range from only mild symptoms to a relentless and finally lethal outcome. This disease accounts for 10-20% of the patients with acute renal ... | Immune system disease | ||
| H01722 | Galloway-Mowat syndrome | ... first four months of life with an average of three months, and a congenital nephrotic syndrome has rarely been described. This nephrotic syndrome is steroid-resistant and associated with a constant and ... | Congenital malformation |
(GAMOS1) WDR73 [HSA:84942] [KO:K24754] (GAMOS2) LAGE3 [HSA:8270] [KO:K15902] (GAMOS3) OSGEP [HSA:55644] [KO:K01409] (GAMOS4) TP53RK [HSA:112858] [KO:K08851] (GAMOS5) TPRKB [HSA:51002] [KO:K15901] (GAMOS6) WDR4 [HSA:10785] [KO:K15443] (GAMOS7) NUP107 [HSA:57122] [KO:K14301] (GAMOS8) NUP133 [HSA:55746] [KO:K14300] (GAMOS9) GON7 [HSA:84520] [KO:K15903] (GAMOS10) YRDC [HSA:79693] [KO:K07566] |
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| H01724 |
HTLV1-associated myelopathy Tropical spastic paraparesis |
... lymphocytes and foamy macrophages, whereas later in the disease CD8+ lymphocytes predominate with subsequent progression to a relatively acellular, atrophic pattern with axonal and myelin degeneration. | Immune system disease; Nervous system disease | ||
| H01727 | Primary alveolar hypoventilation syndrome | ... occurring during infancy is called congenital central alveolar hypoventilation syndrome (CCHS). Although the relationship between CCHS and adult onset PAHS is unclear, the familial occurrence of PAHS may suggest ... | Respiratory system disease | ||
| 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 | WRN [HSA:7486] [KO:K10900] | |
| H01739 | Polycystic ovary syndrome | ... frequently infertility. Clinical signs of PCOS include elevated luteinizing hormone (LH) and gonadotropin-releasing hormone (GnRH) levels, whereas follicle-stimulating hormone (FSH) levels are muted or unchanged ... | Endocrine and metabolic disease | ||
| H01740 | Macrothrombocytopenia | ... organization, and gene expression. Among these, the most common is MYH9, which is responsible for MYH9-related disease. The second most common are GP1BA, GP1BB, and GP, which are responsible for Bernard-Soulier ... | Hematologic disease |
(MATINS) MYH9 [HSA:4627] [KO:K10352] (BSS) GP1BA [HSA:2811] [KO:K06261] (BSS) GP1BB [HSA:2812] [KO:K06262] (BSS) GP9 [HSA:2815] [KO:K06263] (BDPLT15) ACTN1 [HSA:87] [KO:K05699] (BDPLT16) ITGA2B [HSA:3674] [KO:K06476] (BDPLT19) PRKACG [HSA:5568] [KO:K04345] (BDPLT24) ITGB3 [HSA:3690] [KO:K06493] (STSL1) ABCG8 [HSA:64241] [KO:K05684] (STSL2) ABCG5 [HSA:64240] [KO:K05683] (MACTHC1) TUBB1 [HSA:81027] [KO:K07375] (MACTHC2) TUBA8 [HSA:51807] [KO:K07374] GATA1 [HSA:2623] [KO:K09182] VWF [HSA:7450] [KO:K03900] DIAPH1 [HSA:1729] [KO:K05740] |
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| 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 | ||
| H01760 | Hepatic glycogen storage disease | ... deficiency in liver, skeletal muscle and heart, whereas the remaining patients with GSD IIIb have only liver-related phenotypes. GSD IV usually presents in the first year of life, with hepatomegaly and growth retardation ... | Inherited metabolic disorder |
(GSB Ia) G6PC [HSA:2538] [KO:K01084] (GSB Ib) SLC37A4 [HSA:2542] [KO:K08171] (GSB IIIa/b) AGL [HSA:178] [KO:K01196] (GSB IV) GBE1 [HSA:2632] [KO:K00700] (GSB VI) PYGL [HSA:5836] [KO:K00688] (GSB IX) PHKA2 [HSA:5256] [KO:K07190] (GSB IXb) PHKB [HSA:5257] [KO:K07190] (GSB IXc) PHKG2 [HSA:5261] [KO:K00871] (GSB 0a) GYS2 [HSA:2998] [KO:K00693] |
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| 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 | ||
| H01767 | Henoch-Schonlein purpura nephritis | ... spontaneously or lead to chronic lesions. HSPN and IgA nephropathy [DR:H01581] are currently considered related diseases resulting from glomerular deposition of aberrantly glycosylated IgA1. Although both ... | Immune system disease; Urinary system disease | ||
| H01775 |
PCDH19-related epilepsy syndrome Early infantile epileptic encephalopathy 9 Epilepsy with mental retardation limited to females |
PCDH19-related epilepsy syndrome is a disorder characterized by the recurrence of seizures during infancy, which is often combined with intellectual disability or autistic features manifested exclusively ... | Nervous system disease | PCDH19 [HSA:57526] [KO:K16499] | |
| H01795 |
Blepharophimosis-mental retardation syndrome Ohdo syndrome |
... [DS:H01793]; (4) BMRS, MKB (Maat-Kievit-Brunner) type; (5) BMRS, Verloes type. BMR may also be found in relatively nonspecific developmental anomalies and in unclassified individuals, further widening the ... | Congenital malformation |
(SBBYS type) KAT6B [HSA:23522] [KO:K11306] (MKB type) MED12 [HSA:9968] [KO:K15162] |
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