UniProt ID | Protein Name | Source |
---|---|---|
Q9H6U8 | Alpha-1,2-mannosyltransferase ALG9 | |
Q9Y487 | V-type proton ATPase 116 kDa subunit a 2 |
HPO ID | HPO Term |
---|---|
HP:0000474 | Thickened nuchal skin fold |
HP:0000506 | Telecanthus |
HP:0000520 | Proptosis |
HP:0000565 | Esotropia |
HP:0000586 | Shallow orbits |
HP:0000737 | Irritability |
HP:0000813 | Bicornuate uterus |
HP:0000998 | Hypertrichosis |
HP:0001234 | Hitchhiker thumb |
HP:0001249 | Intellectual disability |
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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