UniProt ID | Protein Name | Source |
---|---|---|
P07954 | Fumarate hydratase, mitochondrial | |
Q99798 | Aconitate hydratase, mitochondrial |
HPO ID | HPO Term |
---|---|
HP:0002007 | Frontal bossing |
HP:0002059 | Cerebral atrophy |
HP:0002119 | Ventriculomegaly |
HP:0002126 | Polymicrogyria |
HP:0002133 | Status epilepticus |
HP:0002167 | Abnormality of speech or vocalization |
HP:0002187 | Intellectual disability, profound |
HP:0002190 | Choroid plexus cyst |
HP:0002365 | Hypoplasia of the brainstem |
HP:0002904 | Hyperbilirubinemia |
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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