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Osteopetrosis

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Definition: Excessive formation of dense trabecular bone leading to pathological fractures; OSTEITIS; SPLENOMEGALY with infarct; ANEMIA; and extramedullary hemopoiesis (HEMATOPOIESIS, EXTRAMEDULLARY).  do not confuse with OSTEOPOROSIS    Other names Osteosclerosis Fragilis; Marble Bone Disease; Albers-Schoenberg Disease; Osteosclerosis Fragilis Generalisatas; Disease, Marble Bone; Disease, Albers-Sch+Šnberg; Disease, Albers-Schonberg; Albers Sch+Šnberg Disease; Albers Schonberg Disease, Autosomal Dominant; Albers Schonberg Disease; Osteosclerosis Fragilis Generalisata; Osteopetrosis Autosomal Dominant Type 2; Marble Bones, Autosomal Dominant; Osteopetroses; Autosomal Dominant Osteopetrosis Type 2; Albers-Sch+Šnberg Disease; Albers-Schonberg Disease, Autosomal Dominant; Albers-Schonberg Disease
 
SubstanceCAS Registry & nameCategoriesSource
Worth syndrome  0   *Hyperostosis, Cortical, Congenital *Osteopetrosis.
Whyte Murphy Fallon Sly syndrome  0   *Acidosis, Renal Tubular *Calcinosis *Osteopetrosis Basal Ganglia/abnormalities.
Osteopetrosis, mild autosomal recessive form  0   *Osteopetrosis/congenital.
Osteopetrosis with renal tubular acidosis  0   *Acidosis, Renal Tubular *Osteopetrosis *Urea Cycle Disorders, Inborn Carbonic Anhydrases/deficiency.
Osteopetrosis lethal  0   *Osteopetrosis/congenital.
Osteopetrosis autosomal dominant type 1  0   *Osteopetrosis/congenital.
Osteopetrosis and infantile neuroaxonal dystrophy  0   *Osteopetrosis *Neuroaxonal Dystrophies.
Roy Maroteaux Kremp syndrome  0   *Nervous System Diseases *Osteopetrosis *Skin Diseases *Spastic Paraplegia, Hereditary.

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Sources: NLM Medical Subject Headings, NIH UMLS, Drugs@FDA, FDA AERS original data copyright United States Government. No endorsement implied. Last modified 6/6/2012

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