UniProt ID | Protein Name | Source |
---|---|---|
Q3T906 | N-acetylglucosamine-1-phosphotransferase subunits alpha/beta |
HPO ID | HPO Term |
---|---|
HP:0002690 | Large sella turcica |
HP:0002756 | Pathologic fracture |
HP:0002804 | Arthrogryposis multiplex congenita |
HP:0002837 | Recurrent bronchitis |
HP:0002869 | Flared iliac wing |
HP:0003016 | Metaphyseal widening |
HP:0003026 | Short long bone |
HP:0003180 | Flat acetabular roof |
HP:0003264 | Deficiency of N-acetylglucosamine-1-phosphotransferase |
HP:0003300 | Ovoid vertebral bodies |
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Supported by JST NBDC Grant Number JPMJND2204
Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.1.0
Last updated: December 9, 2024