HPO ID | HPO Term |
---|---|
HP:0000035 | Abnormal testis morphology |
HP:0000135 | Hypogonadism |
HP:0000405 | Conductive hearing impairment |
HP:0000407 | Sensorineural hearing impairment |
HP:0000501 | Glaucoma |
HP:0000505 | Visual impairment |
HP:0000512 | Abnormal electroretinogram |
HP:0000543 | Optic disc pallor |
HP:0000546 | Retinal degeneration |
HP:0000563 | Keratoconus |
Gene ID | Gene Symbol | Description |
---|---|---|
138050 | HGSNAT | heparan-alpha-glucosaminide N-acetyltransferase |
3419 | IDH3A | isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha |
3420 | IDH3B | isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta |
55624 | POMGNT1 | protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-) |
762 | CA4 | carbonic anhydrase 4 |
79947 | DHDDS | dehydrodolichyl diphosphate synthase subunit |
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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