Symbol Name ID |
Sgsh
N-sulfoglucosamine sulfohydrolase (sulfamidase) MGI:1350341 |
Darker colors indicate more annotations |
Human Phenotypes | Craniofacial hyperostosis |
Dense calvaria |
Dolichocephaly |
Macrocephaly |
Genu valgum |
Avascular necrosis of the capital femoral epiphysis |
Flexion contracture |
Joint stiffness |
Increased susceptibility to fractures |
Abnormal skeletal morphology |
Hip dysplasia |
Abnormal clavicle morphology |
Abnormal rib morphology |
Thickened ribs |
Scoliosis |
Abnormal form of the vertebral bodies |
Ovoid thoracolumbar vertebrae |
Reduced bone mineral density |
Dysostosis multiplex |
Disease(s) Associated with SGSH | |||||||||||||||||||
mucopolysaccharidosis III | |||||||||||||||||||
mucopolysaccharidosis type IIIA |
Mouse Phenotypes | thick neurocranium |
short tibia |
abnormal vertebrae morphology |
increased bone mineral content |
increased bone mineral density |
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Availability | Mouse Genotype | |||||
Sgshem3(IMPC)Tcp/Sgshem3(IMPC)Tcp | ||||||
Sgshmps3a/Sgshmps3a |
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO) |
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last database update 04/16/2024 MGI 6.23 |
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