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ENSpondylometaphyseal Dysplasia with Corneal Dystrophy (SMDCD)
Alias:
Smdcd
Spondylometaphyseal Dysplasia-Corneal Dystrophy Syndrome
Smd-Corneal Dystrophy Syndrome
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Spondylometaphyseal Dysplasia with Corneal Dystrophy, also known as smdcd, is related to sarcomatoid squamous cell skin carcinoma and myoblastoma. An important gene associated with Spondylometaphyseal Dysplasia with Corneal Dystrophy is PLCB3 (Phospholipase C Beta 3), and among its related pathways/superpathways are Neuroscience and Spinal cord injury. Affiliated tissues include bone and eye, and related phenotypes are depressed nasal bridge and corneal opacity
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