HPO ID | HPO Term |
---|---|
HP:0000028 | Cryptorchidism |
HP:0000054 | Micropenis |
HP:0000158 | Macroglossia |
HP:0000238 | Hydrocephalus |
HP:0000252 | Microcephaly |
HP:0000478 | Abnormality of the eye |
HP:0000485 | Megalocornea |
HP:0000486 | Strabismus |
HP:0000518 | Cataract |
HP:0000525 | Abnormality iris morphology |
Gene ID | Gene Symbol | Description |
---|---|---|
10585 | POMT1 | protein O-mannosyltransferase 1 |
29925 | GMPPB | GDP-mannose pyrophosphorylase B |
29954 | POMT2 | protein O-mannosyltransferase 2 |
79147 | FKRP | fukutin related protein |
9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
84197 | POMK | protein O-mannose kinase |
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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