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Life and health

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Hypomyces lactifluorum

Hypomyces lactifluorum, the lobster mushroom fungus, is a parasitic Hypocreaceae ascomycete that infects Russula and Lactarius hosts, especially Russula brevipes, turning them into orange, deformed, choice-edible lobster mushrooms sold across North America.

Hypomyelination of early myelinating structures

Hypomyelination of early myelinating structures (HEMS) is a rare X-linked genetic disorder in which early-myelinating brain regions stay poorly myelinated, presenting in infancy with nystagmus and ataxia.

Hypomyelination with atrophy of basal ganglia and cerebellum

H-ABC (hypomyelination with atrophy of basal ganglia and cerebellum) is a rare TUBB4A- or UFM1-related leukodystrophy with hypomyelination, putamen and cerebellar atrophy, dystonia, spasticity, and ataxia, onset in infancy.

Hypomyelination with brain stem and spinal cord involvement and leg spasticity

HBSL (hypomyelination with brain stem and spinal cord involvement and leg spasticity), also called aspartyl-tRNA synthetase deficiency, is an autosomal recessive DARS1 leukodystrophy causing leg spasticity, nystagmus, and hypomyelination on MRI.

Hyponatremia

Hyponatremia, a serum sodium below 135 mmol/L, is the most common electrolyte disorder, affecting 15–30% of hospitalized patients; classified by volume status and treated with hypertonic saline, fluid restriction, or vaptans.

Hypoparathyroidism

Hypoparathyroidism, low PTH with hypocalcemia, is a rare endocrine disorder, about 75% postsurgical, treated with calcium and vitamin D; palopegteriparatide (Yorvipath) is the first PTH replacement approved.

Hypoparathyroidism-sensorineural deafness-renal disease syndrome

Hypoparathyroidism-sensorineural deafness-renal disease syndrome, also called Barakat or HDR syndrome, is a rare autosomal dominant inherited disorder from GATA3 gene variants, first described in 1977.

Hypophosphatasia

Hypophosphatasia (HPP) is a rare inherited metabolic bone disease caused by ALPL gene variants that impair bone and tooth mineralization, causing rickets, osteomalacia, and premature tooth loss.

Hypophosphatemia

Hypophosphatemia: serum phosphate below 2.5 mg/dL (0.81 mmol/L). Also called low phosphate. Causes include refeeding, alcohol use disorder, DKA recovery, diuretics, hyperparathyroidism; severe cases cause weakness, rhabdomyolysis, seizures.

Hypophosphaturia

Hypophosphaturia (低リン酸尿症), ICD-11 MF98.6, is abnormally low urinary phosphate, a lab finding distinct from hypophosphatemia; it indicates nonrenal causes such as poor absorption or cellular shift rather than renal phosphate wasting.

Hypophthalmichthys nobilis

Hypophthalmichthys nobilis, the bighead carp, a large East Asian filter-feeding cyprinid farmed worldwide and invasive in the Mississippi River basin; introduced to the US in 1973, listed injurious in 2011.

Hypophysectomy

Hypophysectomy is the surgical removal of the pituitary gland, evolved from open craniotomy to endoscopic endonasal surgery, most often to treat pituitary adenomas; the first transsphenoidal resection was by Hermann Schloffer in 1907.

Hypopigmentation-punctate palmoplantar keratoderma syndrome

Hypopigmentation-punctate palmoplantar keratoderma syndrome, or Cole disease (OMIM 615522), is a rare autosomal dominant ENPP1-related skin disorder with punctate palmoplantar keratoderma, extremity hypopigmentation, and occasional ectopic calcification.

Hypopituitarism

Hypopituitarism: deficiency of one or more pituitary hormones, also called Simmonds' disease; causes include pituitary adenoma, surgery, radiation, and Sheehan's syndrome; treated with hormone replacement.

Hypoplasia of pancreas

Hypoplasia of pancreas (ICD-11 LB21.5), also called partial pancreatic agenesis, is congenital underdevelopment of the pancreas, usually of the dorsal anlage. It causes exocrine insufficiency and neonatal diabetes, most often from GATA6, PDX1, PTF1A, or HNF1B mutations.

Hypoplasminogenemia

Hypoplasminogenemia (plasminogen deficiency type 1) is a rare autosomal recessive PLG disorder causing ligneous fibrin-rich mucosal lesions, chiefly ligneous conjunctivitis; treated with plasma-derived plasminogen concentrate Ryplazim, FDA approved 2021.

Hypoplastic left heart syndrome

Hypoplastic left heart syndrome (HLHS) is a critical congenital heart defect with underdeveloped left ventricle, mitral and aortic valves, and ascending aorta; treated with Norwood, Glenn, and Fontan staged surgery.

Hypoplastic right heart syndrome

Hypoplastic right heart syndrome (HRHS) is a rare cyanotic congenital defect with underdeveloped tricuspid valve, right ventricle, pulmonary valve, and pulmonary artery, treated with prostaglandin, shunts, and Glenn/Fontan palliation.

Hypopnea

Hypopnea: a sleep-related breathing event of reduced (not absent) airflow lasting at least 10 seconds, scored by AASM rules (30% airflow drop with 3% desaturation or arousal) and counted in the apnea-hypopnea index for obstructive sleep apnea diagnosis.

Hypopyon

Hypopyon (anterior chamber pus level, ICD-11 MC20.2) is a gravity-dependent layer of white blood cells in the eye's anterior chamber, signaling severe intraocular inflammation from causes such as HLA-B27 uveitis, Behçet disease, endophthalmitis, and keratitis.

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome

Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome, also called Bosma arhinia microphthalmia syndrome (BAMS, OMIM 603457), is an extremely rare autosomal dominant disorder caused by SMCHD1 missense mutations, combining arhinia, microphthalmia, hyposmia, and hypogonadotropic hypogonadism with normal intelligence.

Hypospadias

Hypospadias: congenital male urethral malformation with a ventrally displaced urethral opening, also called distal, penile, or penoscrotal hypospadias; repaired surgically, usually at 6-18 months, with fistula and stenosis as main complications.

Hypospadias repair

Hypospadias repair is the pediatric urological operation that moves the urethral opening to the tip of the penis and straightens curvature, usually done at 6 to 18 months of age.

Hypospadias, penile

Hypospadias, penile (ICD-11 LB53.1): hypospadias with the urethral meatus on the penile shaft, the middle severity class; occurs in 1 of 150-300 male births, repaired surgically at 6-18 months.

Hypospadias, penoscrotal

Penoscrotal hypospadias (ICD-11 LB53.2) is a severe proximal hypospadias with the urethral meatus at the penoscrotal junction, usually with ventral curvature, requiring staged repair in 20-25% of hypospadias cases.

Hypostomus plecostomus

Hypostomus plecostomus, also known as the common pleco, is an armored suckermouth catfish native to the Guianas in northern South America, a popular algae-eating aquarium fish.

Hypotelorism

Hypotelorism (hipotelorismo) is an abnormally decreased distance between the eyes, classified as ICD-11 LB71.0. It signals midline defects, chiefly holoprosencephaly and trigonocephaly, and is linked to trisomy 13 and Sonic hedgehog pathway alterations.

Hypotension

Hypotension is abnormally low blood pressure, generally below 90/60 mm Hg in adults. Key forms include orthostatic, postprandial, and neurally mediated hypotension and shock; treatment targets symptoms, with midodrine and droxidopa FDA-approved for orthostatic hypotension.

Hypotensive peristalsis

Hypotensive peristalsis (ICD-11 DA21.21), also called ineffective esophageal motility, is abnormally weak (<30 mmHg) esophageal peristaltic contractions seen in GERD, scleroderma, and lung disease.

Hypothalamic gonadotropin-releasing hormone neuron

Hypothalamic GnRH neuron, also called GnRH-1 neuron, a neuroendocrine cell born in the nasal placode that migrates into the forebrain and secretes pulsatile GnRH controlling LH/FSH release; its failure causes Kallmann syndrome and congenital hypogonadotropic hypogonadism.