Gene ID | Gene Symbol | Description | Source |
---|---|---|---|
43436 | alpha-Man-Ib | alpha-Mannosidase class I b |
UniProt ID | Protein Name | Source |
---|---|---|
Q9UKM7 | Endoplasmic reticulum mannosyl-oligosaccharide 1,2-alpha-mannosidase |
HPO ID | HPO Term |
---|---|
HP:0000007 | Autosomal recessive inheritance |
HP:0000219 | Thin upper lip vermilion |
HP:0000256 | Macrocephaly |
HP:0000268 | Dolichocephaly |
HP:0000272 | Malar flattening |
HP:0000276 | Long face |
HP:0000307 | Pointed chin |
HP:0000316 | Hypertelorism |
HP:0000319 | Smooth philtrum |
HP:0000322 | Short philtrum |
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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