HPO ID | HPO Term |
---|---|
HP:0000975 | Hyperhidrosis |
HP:0001649 | Tachycardia |
HP:0003001 | Glomus jugular tumor |
HP:0003006 | Neuroblastoma |
HP:0003581 | Adult onset |
HP:0003829 | Typified by incomplete penetrance |
HP:0006824 | Cranial nerve paralysis |
HP:0011976 | Elevated urinary catecholamine level |
HP:0100723 | Gastrointestinal stroma tumor |
HP:0001609 | Hoarse voice |
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