UniProt ID | Protein Name | Source |
---|---|---|
Q06136 | 3-ketodihydrosphingosine reductase |
HPO ID | HPO Term |
---|---|
HP:0001595 | Abnormal hair morphology |
HP:0000958 | Dry skin |
HP:0007957 | Corneal opacity |
HP:0000411 | Protruding ear |
HP:0002230 | Generalized hirsutism |
HP:0012733 | Macule |
HP:0001034 | Hypermelanotic macule |
HP:0000252 | Microcephaly |
HP:0001182 | Tapered finger |
HP:0005588 | Patchy palmoplantar hyperkeratosis |
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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