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recessive osteopetrosis

См. также в других словарях:

  • Osteopetrosis — (Malignant) Classification and external resources X ray of the pelvis of a patient with osteopetrosis, adult onset form (Albers Schonberg disease). Note the dense bones. ICD …   Wikipedia

  • Osteopetrosis — Thickening of the bones which become abnormally dense due an inherited defect in bone resorption the process in which old bone is broken down and removed so that new bone can be added to the skeleton. Osteoclasts are the cells responsible for… …   Medical dictionary

  • infantile malignant osteopetrosis — the autosomal recessive type of osteopetrosis …   Medical dictionary

  • OSTM1 — Osteopetrosis associated transmembrane protein 1 Identifiers Symbols OSTM1; GIPN; GL; OPTB5 External IDs …   Wikipedia

  • V-ATPase — [ thumb|200px|V type sodium ATPase from Enterococcus hirae . Calculated hydrocarbon boundaries of the lipid bilayer are shown by red and blue dots] Vacuolar type H+ ATPase (V ATPase) is a highly conserved evolutionarily ancient enzyme with… …   Wikipedia

  • CLCN7 — Chloride channel 7, also known as CLCN7, is a human gene.cite web | title = Entrez Gene: CLCN7 chloride channel 7| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene Cmd=ShowDetailView TermToSearch=1186| accessdate = ] PBB Summary section… …   Wikipedia

  • Carbonic anhydrase II — (gene name CA2), is one of fourteen forms of human α carbonic anhydrases. Carbonic anhydrase catalyzes reversible hydration of carbon dioxide. Defects in this enzyme are associated with osteopetrosis and renal tubular acidosis [cite web | title …   Wikipedia

  • TCIRG1 — T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3, also known as TCIRG1, is a human gene.cite web | title = Entrez Gene: TCIRG1 T cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3| url =… …   Wikipedia

  • List of diseases (O) — A list of diseases in the English wikipedia.O Ob* O Doherty syndrome * O Donnell Pappas syndrome * Obesity * Obesophobia * Obsessive compulsive disorder * Obstructive asymmetric septal hypertrophy * Obstructive sleep apneaOcOcc Och* Occipital… …   Wikipedia

  • syndrome — The aggregate of symptoms and signs associated with any morbid process, and constituting together the picture of the disease. SEE ALSO: disease. [G. s., a running together, tumultuous concourse; (in med.) a concurrence of symptoms, fr. syn,… …   Medical dictionary

  • endocrine system, human — ▪ anatomy Introduction  group of ductless glands (gland) that regulate body processes by secreting chemical substances called hormones (hormone). Hormones act on nearby tissues or are carried in the bloodstream to act on specific target organs… …   Universalium

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