Osteopetrosis

Osteopetrosis(来自ICD-11)
别称:
Albers-Schonberg Disease
Congenital Osteopetrosis
Marble Bone Disease
Osteopetroses
Marble Bones
Marble Bone
Ivory Bones
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Basic Information
Medical Symptom
Gene & Mutation
Related Drugs
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References Literature
Osteopetrosis, also known as albers-schonberg disease, is related to osteopetrosis, autosomal recessive 7 and osteopetrosis, autosomal recessive 3. An important gene associated with Osteopetrosis is CLCN7 (Chloride Voltage-Gated Channel 7), and among its related pathways/superpathways are Innate Immune System and Akt Signaling. The drugs Methotrexate and Alemtuzumab have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are growth/size/body region and homeostasis/metabolism
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相关ID:
MESH:D010022
ICD11:1498426606

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MALACARDS
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AD
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51
618
23

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