HPO ID | HPO Term |
---|---|
HP:0000093 | Proteinuria |
HP:0000096 | Glomerular sclerosis |
HP:0000405 | Conductive hearing impairment |
HP:0000526 | Aniridia |
HP:0000740 | Episodic paroxysmal anxiety |
HP:0000790 | Hematuria |
HP:0000980 | Pallor |
HP:0001069 | Episodic hyperhidrosis |
HP:0001095 | Hypertensive retinopathy |
HP:0001293 | Cranial nerve compression |
Gene ID | Gene Symbol | Description |
---|---|---|
1743 | DLST | dihydrolipoamide S-succinyltransferase |
2271 | FH | fumarate hydratase |
4191 | MDH2 | malate dehydrogenase 2 |
6389 | SDHA | succinate dehydrogenase complex flavoprotein subunit A |
6390 | SDHB | succinate dehydrogenase complex iron sulfur subunit B |
6391 | SDHC | succinate dehydrogenase complex subunit C |
6392 | SDHD | succinate dehydrogenase complex subunit D |
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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