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Entry	Name	Description	Category	Gene
H01606	Polymyalgia rheumatica	... involved. These symptoms often persist for at least 1 month and are combined with incapacitating morning stiffness, a decline in general health, and an elevated acute-phase response. Onset of PMR symptoms ...	Musculoskeletal disease
H01609	Insomnia	... complaints related to insomnia are difficulty initiating sleep (sleep-onset insomnia), difficulty maintaining sleep due to prolonged nocturnal awakenings (sleep-maintenance insomnia), early morning awakenings ...	Nervous system disease
H01610	Clonorchiasis	... human liver fluke, is endemic in East Asia. The human and animal reservoir hosts acquire the infection from the ingestion of raw fish (the second intermediate hosts) containing infectious metacercariae.	Parasitic infectious disease
H01618	Pituitary gigantism	... growth velocity with tall stature, enlargement of the hands and feet, excessive perspiration, coarsening of facial features, and headaches. It has been reported that duplication of GPR101 probably causes ...	Endocrine and metabolic disease	GPR101 (duplication) [HSA:83550] [KO:K08423]
H01631	Acute heart failure	... can be defined as a heterogeneous syndrome of signs and symptoms of new-onset or gradual/rapidly worsening heart failure (HF), requiring urgent therapy. Intrinsic cardiac abnormalities and comorbid conditions ...	Cardiovascular disease	PPA2 [HSA:27068] [KO:K01507]
H01634	Peptic ulcer	... secretion. It usually occurs in the stomach and proximal duodenum. Typical symptoms include episodic burning epigastric pain, loss of appetite, and weight loss. Pain usually occurs two to five hours after ...	Digestive system disease
H01638	Neuropathic pain Neuralgia	... therapies such as spinal cord stimulation. Analgesic agents recommended for first-line treatments are gabapentinoids, tricyclic antidepressants (TCAs) and serotonin noradrenaline reuptake inhibitors (SNRIs).	Nervous system disease
H01646	Major depressive disorder	... of MDD although the pathogenesis of MDD remains unknown. Mutations in genes involved in brain serotonin synthesis, have been identified in patients. Brain serotonin deficiency has been hypothesized to ...	Mental and behavioural disorder	TPH2 [HSA:121278] [KO:K00502] HTR2A [HSA:3356] [KO:K04157] FKBP5 [HSA:2289] [KO:K09571]
H01647	Subacute thyroiditis Subacute granulomatous thyroiditis De Quervain thyroiditis	... Clinically, it presents with acute onset of pain in the thyroid region. The pain may be exacerbated by turning the head or swallowing, and may radiate to the jaw, ear or chest. Common initial clinical features ...	Endocrine and metabolic disease
H01651	Macular edema	... occlusion, diabetic retinopathy and following cataract extraction. It is characterized by a retinal thickening in the macular area due to the breakdown of the blood-retinal barrier. Extracellular fluid accumulates ...	Nervous system disease
H01653	Bipolar disorder Manic depressive illness	... or hypomanic episodes differ in severity and length. In a hypomanic episode, a disturbance in functioning can be seen by others but does not typically cause severe impairment or require admission to hospital ...	Mental and behavioural disorder	(MAFD7) XBP1 [HSA:7494] [KO:K09027]
H01660	Pityriasis rosea	... with human herpesviruses 6 and 7 (HHV-6/7). HHV-6 and HHV-7 may also interact with each other, explaining recurrences and atypical presentations. PR is self limiting and resolves within one to three months ...	Skin disease
H01662	Generalized anxiety disorder Anxiety neurosis	... term and medium term, effective treatments include psychological therapies, such as cognitive behavioural therapy, and pharmacological treatments, mainly selective serotonin reuptake inhibitors (SSRIs).	Mental and behavioural disorder
H01663	Pustular psoriasis	... fever, and chills. The disease course varies from a benign, chronic process to an acute life-threatening episode, and as such optimal treatment depends on severity. Diseases considered within the spectrum ...	Immune system disease; Skin disease
H01664	Panic disorder	... remain unknown. Cognitive behavioural therapy (CBT) and several medications, including selective serotonin reuptake inhibitors (SSRIs), serotonin-norepinephrine reuptake inhibitors (SNRIs), tricyclic antidepressants ...	Mental and behavioural disorder
H01668	Neoplastic meningitis	Neoplastic meningitis (NM) is a diffuse dissemination of tumor cells into the cerebrospinal fluid (CSF) and/or leptomeninges. NM is reported in patients with solid tumours (carcinomatous meningitis), haematological ...	Nervous system disease
H01670	Social anxiety disorder Social phobia	... patients with social anxiety disorder. In addition, there is evidence from various studies, that the serotonin, and dopamine neurotransmitter systems mediate the symptoms of SAD. A range of effective cognitive ...	Mental and behavioural disorder
H01672	Juvenile idiopathic arthritis	... fever, rash, pericarditis, peritonitis, lymphadenopathy and organomegaly. A severe and often life-threatening complication occurring in 10-30% of patients with systemic JIA is macrophage activation syndrome ...	Immune system disease	IL6 [HSA:3569] [KO:K05405] MIF [HSA:4282] [KO:K07253] (JUVAR) LACC1 [HSA:144811] [KO:K05810]
H01673	Palmoplantar keratoderma	... keratodermas (PPK) comprise a heterogeneous group of keratinization disorders with hyperkeratotic thickening of palms and soles. Sporadic or acquired forms of PPKs and hereditary forms exist. The causes of ...	Congenital malformation
H01676	Normal pressure hydrocephalus	... that cause inflammation of the arachnoid, such as subarachnoid hemorrhage, traumatic brain injury, or meningitis. As many as half of patients with NPH have no identifiable risk factor, and it is called idiopathic ...	Nervous system disease
H01681	Acute pancreatitis	Acute pancreatitis ranges from a mild, self- limiting disease to a life-threatening condition with multiple organ failure. Abdominal pain is the predominant symptom. Nausea and vomiting may accompany the ...	Digestive system disease
H01682	Syndrome of inappropriate antidiuretic hormone secretion	... SIADH is divided into two categories. One is the ectopic ADH syndrome induced by abnormally secreted arginine vasopressin (ADH/AVP) from cancer cells. Another is the morbidity caused by inappropriately secreted ...	Endocrine and metabolic disease	AVPR2 [HSA:554] [KO:K04228]
H01683	Disorders of antidiuretic hormone (ADH) secretion	... the most troublesome being disorders of antidiuretic hormone (ADH) secretion. ADH is also known as arginine vasopressin (AVP). The prime determinant of free water excretion is the regulation of urinary flow ...	Endocrine and metabolic disease	AVPR2 [HSA:554] [KO:K04228]
H01688	Rapidly progressive glomerulonephritis	Rapidly progressive glomerulonephritis (RPGN) or crescentic glomerulonephritis is a life-threatening disease that destroys kidneys over a period of days to weeks. Proliferation of epithelial cells and ...	Urinary system disease
H01691	Renal angiomyolipoma	... and blood vessels. About 80% of AMLs are sporadic and not associated with any genetic syndrome. Remaining cases are associated with tuberous sclerosis complex (TSC) and sporadic lymphangioleiomyomatosis ...	Neoplasm	(TSC1) TSC1 [HSA:7248] [KO:K07206] (TSC2) TSC2 [HSA:7249] [KO:K07207]
H01694	Stevens-Johnson syndrome Toxic epidermal necrolysis Lyell syndrome	... pharynx, esophagus, trachea, gastrointestinal tract, urinary tract and genital mucosae. Life-threatening bleeding and infections may be observed as a result of these changes. The rates of severe complications ...	Immune system disease; Skin disease	HLA-A [HSA:3105] [KO:K06751] HLA-B [HSA:3106] [KO:K06751]
H01708	Diffuse idiopathic skeletal hyperostosis Forestier disease Ankylosing hyperostosis Ossification of the anterior longitudinal ligament	Diffuse idiopathic skeletal hyperostosis (DISH), also known as Forestier disease, is a systemic noninflammatory disease characterized by ossification of the entheses. It affects mainly elderly men, and ...	Musculoskeletal disease
H01712	Fulminant hepatic failure Fulminant hepatitis	Fulminant hepatic failure (FHF) is a life-threatening condition characterized by the rapid deterioration of liver functions and hepatic encephalopathy. FHF is with the basic definition of the onset of ...	Digestive system disease
H01724	HTLV1-associated myelopathy Tropical spastic paraparesis	... inflammation of the white and gray matter of the spinal cord. Early in the disease process the leptomeninges, blood vessels and parenchyma are infiltrated with CD4+, CD8+, B lymphocytes and foamy macrophages ...	Immune system disease; Nervous system disease
H01727	Primary alveolar hypoventilation syndrome	... an underlying genetic mechanism. It has been represented that some adult onset PAHS may be a mild type of CCHS. Recently, noninvasive positive pressure ventilation (NIPPV) has become available for PAHS.	Respiratory system disease
H01733	Werner syndrome	... phenotype, which includes many age-related disorders that develop from puberty, including greying and thinning of the hair, bilateral cataract formation, type II diabetes mellitus, osteoporosis and atherosclerosis ...	Endocrine and metabolic disease	WRN [HSA:7486] [KO:K10900]
H01749	Achondroplasia	... radiographic features. Newborn infants with achondroplasia typically present with disproportionate shortening of the limbs, a long and narrow trunk, a large head with frontal bossing and midface retrusion. ...	Congenital malformation	FGFR3 [HSA:2261] [KO:K05094]
H01755	Apert syndrome	... and feet, and dysmorphic facial features. Other frequent complications include cleft palate and learning disability. Over 98% of cases are caused by specific missense mutations of FGFR2, either Ser252Trp ...	Congenital malformation	FGFR2 [HSA:2263] [KO:K05093]
H01758	Relapsing polychondritis	... from intermittent inflammatory episodes leading to unesthetic structural deformities to life-threatening cardiopulmonary manifestations, such as airway collapse and valvular regurgitation. The diagnosis ...	Musculoskeletal disease
H01759	Autoimmune acquired factor XIII (F13) deficiency Autoimmune hemorrhaphilia XIII/13	... hemorrhaphilia resulted from the generation of anti-F13 antibodies (AHFXIII) is a rare but severe life-threatening bleeding disorder. In contrast, non-autoimmune hemorrhagic acquired F13 deficiency (HAF13D) is a ...	Hematologic disease
H01760	Hepatic glycogen storage disease	... symptoms and signs due to the enzyme 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 ...	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]
H01787	Univentricular heart	... are exceedingly rare. It is generally agreed that the atrioventricular connection is central in defining the univentricular heart. More specifically, the well-developed ventricle may be designated left ...	Congenital malformation
H01788	Klippel-Trenaunay-Weber syndrome	... asymmetry. Clinical presentation may vary from being asymptomatic to developing potentially life-threatening complications, such as deep vein thrombosis (DVT), pulmonary embolism (PE), and recurrent bleeding ...	Congenital malformation
H01795	Blepharophimosis-mental retardation syndrome Ohdo syndrome	... his name was attached. Subsequently, several cases have been reported as Ohdo/Ohdo-like syndrome, widening the spectrum of clinical findings of BMRS, which lately were classified into five subtypes by Verloes ...	Congenital malformation	(SBBYS type) KAT6B [HSA:23522] [KO:K11306] (MKB type) MED12 [HSA:9968] [KO:K15162]
H01796	Uncombable hair syndrome Spun glass hair syndrome Pili trianguli et canaliculi	... the typical case, improvement may occur over time and spontaneous regression has been reported. Scanning electron microscopy of hair samples provides definitive evidence for diagnosis of clinically suspected ...	Congenital malformation	(UHS1) PADI3 [HSA:51702] [KO:K01481] (UHS2) TGM3 [HSA:7053] [KO:K05620] (UHS3) TCHH [HSA:7062] [KO:K18626]

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