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ENGhosal Hematodiaphyseal Dysplasia (GHDD)
Alias:
Ghosal Syndrome
Ghosal Hematodiaphyseal Syndrome
Diaphyseal Dysplasia-Anemia Syndrome
Ghdd
Diaphyseal Dysplasia Associated with Anemia
Ghosal-Type Hemato-Diaphyseal Dysplasia
Ghosal Hemato-Diaphyseal Dysplasia
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Ghosal Hematodiaphyseal Dysplasia, also known as ghosal syndrome, is related to camurati-engelmann disease and myelofibrosis. An important gene associated with Ghosal Hematodiaphyseal Dysplasia is TBXAS1 (Thromboxane A Synthase 1), and among its related pathways/superpathways are Transcription_Role of VDR in regulation of genes involved in osteoporosis and Type I collagen synthesis in the context of osteogenesis imperfecta. Affiliated tissues include bone and bone marrow, and related phenotypes are craniofacial hyperostosis and bowing of the long bones
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MALACARDS
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