72,234 articles
Hereditary renal hypouricemia
Hereditary renal hypouricemia, also called familial renal hypouricemia, is an inherited kidney disorder in which defective urate reabsorption causes abnormally low blood uric acid levels.
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation (HSAN9) is an ultra-rare autosomal recessive disorder causing developmental delay, intellectual disability, and a progressive sensory and autonomic neuropathy.
Hereditary sensory and autonomic neuropathy type 1
Hereditary sensory and autonomic neuropathy type 1 (HSAN1) is a rare inherited disorder causing loss of sensation, skin ulcers, and pain, usually beginning in adulthood.
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 2 (HSAN2), also called congenital sensory neuropathy, is a rare inherited neuropathy causing loss of pain, temperature, and touch sensation from infancy.
Hereditary sensory and autonomic neuropathy type 5
Hereditary sensory and autonomic neuropathy type 5 (HSAN5) is a rare inherited neuropathy present from birth, causing loss of pain and temperature sensation while intellect stays normal.
Hereditary sensory and autonomic neuropathy type 6
HSAN6 (HSAN VI, OMIM 614653) is a rare autosomal recessive sensory and autonomic neuropathy caused by DST (dystonin) mutations, with pain insensitivity, painless fractures, ulcers, and dysautonomia; severity ranges from lethal infancy to adult-onset forms. Distinct from the PRDM12 disorder some papers also call HSAN6.
Hereditary sensory and autonomic neuropathy type 8
HSAN8 (HSAN type VIII, PRDM12-related congenital insensitivity to pain, OMIM 616488) is an autosomal recessive, neonatal-onset disorder causing congenital pain and temperature insensitivity, corneal scarring, reduced sweating, and self-mutilating injuries with preserved touch and intellect.
Hereditary sensory neuropathy-deafness-dementia syndrome
Hereditary sensory neuropathy-deafness-dementia syndrome (HSAN1E, OMIM 614116) is a rare autosomal dominant DNMT1 mutation disorder causing sensorineural hearing loss, sensory neuropathy, and dementia from adolescence or adulthood, fatal in the fifth to sixth decade.
Hereditary sick sinus syndrome
Hereditary sick sinus syndrome: inherited sinus node dysfunction from SCN5A, HCN4, LMNA variants; autosomal dominant or recessive; 2.9-fold familial pacemaker risk; testing yield under 25%.
Hereditary sideroblastic anaemias
Hereditary sideroblastic anaemias (XLSA, SLC25A38 CSA) are inherited anemias with ring sideroblasts from mitochondrial iron loading, ALAS2 mutations most common, pyridoxine-responsive in two-thirds, with systemic iron overload.
Hereditary spastic paraplegia
Hereditary spastic paraplegia (HSP), or Strümpell-Lorrain syndrome, is a group of inherited disorders causing progressive leg spasticity and weakness from corticospinal tract degeneration; over 80 genes, SPG4 most common, pure form in about 90%.
Hereditary spherocytosis
Hereditary spherocytosis (Minkowski-Chauffard disease), the most common red cell membrane disorder, an inherited hemolytic anemia from ankyrin, band 3, or spectrin defects causing splenic destruction of spherocytes; splenectomy treats severe cases.
Hereditary steroid-resistant nephrotic syndrome
Hereditary steroid-resistant nephrotic syndrome, also called genetic steroid-resistant nephrotic syndrome, is a rare inherited kidney disease that fails to respond to corticosteroids and is caused by variants in genes maintaining the glomerular filtration barrier.
Hereditary thrombocytopenia
Hereditary (inherited) thrombocytopenia: germline genetic disorders causing platelet counts below 150 × 10⁹/L, over 40 implicated genes, forms such as MYH9-related disease, Bernard-Soulier syndrome, Wiskott-Aldrich syndrome, and ANKRD26-related thrombocytopenia, often misdiagnosed as immune thrombocytopenia.
Hereditary thrombophilia
Hereditary thrombophilia: inherited clotting defects (antithrombin, protein C, protein S deficiency; factor V Leiden; prothrombin G20210A) raising venous thromboembolism risk; testing recommended only in selective clinical scenarios.
Hereditary xanthinuria
Hereditary xanthinuria (classic xanthinuria, xanthine stone disease, ORPHA:3467) is a rare autosomal recessive purine metabolism disorder caused by XDH or MOCOS mutations, causing hypouricemia, high urinary xanthine, and xanthine kidney stones in about half of patients.
Heredity
Heredity is the passing of genes from parents to offspring, studied by genetics. Key facts: 46 human chromosomes, Mendel's 28,000 pea plants, six single-gene inheritance patterns, heritability, and epigenetic inheritance.
HERG
HERG (hERG, KCNH2, Kv11.1) is the cardiac potassium channel carrying I_Kr; its block causes QTc prolongation and Torsade de Pointes, making the hERG assay central to drug cardiac safety testing, with about 5X assay variability across laboratories.
Hergen Spits
Hergen Spits, publishing as H. Spits, is a Dutch immunologist who co-proposed the three-group nomenclature for innate lymphoid cells and was professor of experimental immunology at Amsterdam UMC until 2019.
Heribert Hirt
Heribert Hirt is an Austrian plant scientist known for MAP kinase signaling in plant stress responses, and a professor at KAUST in Saudi Arabia since 2014.
Heribert Schunkert
Heribert Schunkert is a German cardiologist who has been Professor of Cardiology at the Technical University of Munich and Director of Cardiology at the German Heart Centre Munich since 2012.
Heribert Watzke
Heribert Watzke is a chemist and food scientist who led food materials research at Nestlé and became known for his 2010 TED talk "The brain in your gut".
Hericium
Hericium, the toothed or lion's mane fungi (Pers., 1794; Hericiaceae, Russulales), a genus of white-rot wood-decomposing mushrooms with spiny fruit bodies; about 17 species including H. erinaceus, edible and medicinally studied.
Hericium erinaceus
Hericium erinaceus, the lion's mane or yamabushitake mushroom, is an edible basidiomycete fungus whose erinacines and hericenones stimulate NGF and BDNF; clinical evidence for cognitive benefit remains limited.
Heritability
Heritability: the proportion of trait variation in a population attributable to genetic factors, estimated by twin (ACE) and genomic methods (GREML, LDSC); narrow-sense h² covers additive effects, is population-specific, and does not imply immutability.
Heritability of autism
Heritability of autism: the share of autism risk variance attributable to genetic factors, estimated at roughly 80% via twin, family, and SNP-based studies, with common variation explaining most risk.
Herman A. Taylor Jr.
Herman A. Taylor Jr. is an American cardiologist who founded and led the Jackson Heart Study and directs the Cardiovascular Research Institute at Morehouse School of Medicine.
Herman A. Tyroler
Herman Alfred (Al) Tyroler was an American physician and epidemiologist at the University of North Carolina, a pioneer of cardiovascular disease epidemiology elected to the Institute of Medicine in 1980.
Herman Baker
Herman Baker, born 1926, is an American clinical biochemistry and nutrition researcher known for his work on biotin deficiency at the East Orange VA Medical Center.
Herman Friedman
Herman Friedman was an American immunologist known for work on immune RNA transfer and viral immunosuppression, who chaired microbiology at the University of South Florida.