UniProt ID | Protein Name | Source |
---|---|---|
O00754 | Lysosomal alpha-mannosidase | |
P22033 | Methylmalonyl-CoA mutase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0001263 | Global developmental delay |
HP:0001987 | Hyperammonemia |
HP:0001249 | Intellectual disability |
HP:0002240 | Hepatomegaly |
HP:0001733 | Pancreatitis |
HP:0000124 | Renal tubular dysfunction |
HP:0002072 | Chorea |
HP:0001332 | Dystonia |
HP:0100806 | Sepsis |
HP:0001254 | Lethargy |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024