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Genes / Proteins / Lipids Glycans / Glycoconjugates Glycomes Pathways / Interactions / Diseases / Organisms
hydrocephalus
Summary
- Synonym
-
- hydrocephalus, X-linked
- hydrocephalus, nonsyndromic, autosomal recessive
- Definition
- A cerebral degeneration characterized by an abnormal accumulation of cerebrospinal fluid in the ventricles of the brain, leading to progressive enlargement of the head.
- Super Class
- cerebral degeneration
External Links
- Disease Ontology
- DOID:10908
- Mondo Disease Ontology
- MeSH
- UMLS
- NCI Thesaurus
- ORDO
- OMIM
- GARD
- MGI genotype (from TogoID)
Related Genes
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 5293 | PIK3CD | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit delta | |
| 5294 | PIK3CG | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit gamma | |
| 5465 | PPARA | peroxisome proliferator activated receptor alpha | |
| 5621 | PRNP | prion protein (Kanno blood group) | |
| 5728 | PTEN | phosphatase and tensin homolog | |
| 6296 | ACSM3 | acyl-CoA synthetase medium chain family member 3 | |
| 6440 | SFTPC | surfactant protein C | |
| 6441 | SFTPD | surfactant protein D | |
| 7357 | UGCG | UDP-glucose ceramide glucosyltransferase | |
| 8803 | SUCLA2 | succinate-CoA ligase ADP-forming subunit beta |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001274 | Agenesis of corpus callosum |
| HP:0000639 | Nystagmus |
| HP:0002410 | Aqueductal stenosis |
| HP:0000280 | Coarse facial features |
| HP:0001360 | Holoprosencephaly |
| HP:0004374 | Hemiplegia/hemiparesis |
| HP:0001250 | Seizure |
| HP:0000238 | Hydrocephalus |
| HP:0001331 | Absent septum pellucidum |
| HP:0002516 | Increased intracranial pressure |
