UniProt ID | Protein Name | Source |
---|---|---|
P28329 | Choline O-acetyltransferase |
HPO ID | HPO Term |
---|---|
HP:0004661 | Frontalis muscle weakness |
HP:0004885 | Episodic respiratory distress |
HP:0004889 | Intermittent episodes of respiratory insufficiency due to muscle weakness |
HP:0005943 | Respiratory arrest |
HP:0007178 | Motor polyneuropathy |
HP:0008443 | Neuropathic spinal arthropathy |
HP:0009053 | Distal lower limb muscle weakness |
HP:0010307 | Stridor |
HP:0010536 | Central sleep apnea |
HP:0011469 | Nasal regurgitation |
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Partly supported by NIH Common Fund Grant #1U01GM125267-01
GlyCosmos Portal v4.0.0
Last updated: August 19, 2024