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ENMeckel Syndrome, Type 7 (MKS7)
Alias:
Meckel Syndrome 7
Nphp3-Related Meckel-Like Syndrome
Goldston Syndrome
Mks7
Renal-Hepatic-Pancreatic Dysplasia-Dandy-Walker Cysts Syndrome
Renal Hepatic Pancreatic Dysplasia Dandy Walker Cyst
Meckel-Like Syndrome Type 1
Meckel Syndrome Type 7
Renal-Hepatic-Pancreatic Dysplasia with Dandy-Walker Cyst
Meckel-Gruber Syndrome, Type 7
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Meckel Syndrome, Type 7, also known as meckel syndrome 7, is related to dandy-walker syndrome and renal-hepatic-pancreatic dysplasia 1. An important gene associated with Meckel Syndrome, Type 7 is NPHP3 (Nephrocystin 3), and among its related pathways/superpathways are Gamma carboxylation, hypusinylation, hydroxylation, and arylsulfatase activation and Transcription_Role of VDR in regulation of genes involved in osteoporosis. Affiliated tissues include kidney and liver, and related phenotypes are dandy-walker malformation and multicystic kidney dysplasia
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