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ENOsteochondrodysplasia
Alias:
Skeletal Dysplasia
Chondrodystrophy
Congenital Anomaly of Cartilage
Osteochondrodysplasias
Cartilage Development Disorder
Osteochondrodysplasia Syndrome
Mucopolysaccharidosis Iv
Dysplasia, Skeletal
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Osteochondrodysplasia, also known as skeletal dysplasia, is related to eiken syndrome and primary bone dysplasia. An important gene associated with Osteochondrodysplasia is GALNS (Galactosamine (N-Acetyl)-6-Sulfatase), and among its related pathways/superpathways are PI3K-Akt signaling pathway and Extracellular matrix organization. The drugs Valproic acid and Angiotensin II have been mentioned in the context of this disorder. Affiliated tissues include bone and bone marrow, and related phenotypes are macrocephaly and brachydactyly
Related ID：
MESH：D010009
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MALACARDS
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