UniProt ID | Protein Name | Source |
---|---|---|
P28329 | Choline O-acetyltransferase |
HPO ID | HPO Term |
---|---|
HP:0000218 | High palate |
HP:0000276 | Long face |
HP:0000308 | Microretrognathia |
HP:0000369 | Low-set ears |
HP:0000407 | Sensorineural hearing impairment |
HP:0000467 | Neck muscle weakness |
HP:0000508 | Ptosis |
HP:0000565 | Esotropia |
HP:0000602 | Ophthalmoplegia |
HP:0000639 | Nystagmus |
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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