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ENDyssegmental Dysplasia, Silverman-Handmaker Type (DDSH)
Alias:
Silverman-Handmaker Type Dyssegmental Dysplasia
Ddsh
Anisospondylic Camptomicromelic Dwarfism, Silverman-Handmaker Type
Dysplasia, Dyssegmental, Silverman-Handmaker Type
Dyssegmental Dwarfism, Silverman-Handmaker Type
Dyssegmental Dysplasia Silverman-Handmaker Type
Lethal Kniest-Like Syndrome
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Dyssegmental Dysplasia, Silverman-Handmaker Type, also known as silverman-handmaker type dyssegmental dysplasia, is related to osteochondrodysplasia and dyssegmental dysplasia, rolland-desbuquois type. An important gene associated with Dyssegmental Dysplasia, Silverman-Handmaker Type is HSPG2 (Heparan Sulfate Proteoglycan 2), and among its related pathways/superpathways are ERK Signaling and Signaling by Receptor Tyrosine Kinases. Affiliated tissues include bone and eye, and related phenotypes are short neck and flat face
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MALACARDS
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