UniProt ID | Protein Name | Source |
---|---|---|
O00754 | Lysosomal alpha-mannosidase | |
Q9NTJ4 | Alpha-mannosidase 2C1 |
HPO ID | HPO Term |
---|---|
HP:0004684 | Talipes valgus |
HP:0005280 | Depressed nasal bridge |
HP:0005791 | Cortical thickening of long bone diaphyses |
HP:0007957 | Corneal opacity |
HP:0008821 | Hypoplastic inferior ilia |
HP:0009062 | Infantile axial hypotonia |
HP:0010471 | Oligosacchariduria |
HP:0010665 | Bilateral coxa valga |
HP:0010885 | Avascular necrosis |
HP:0011220 | Prominent forehead |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024