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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 |
|---|---|---|---|
| 9126 | SMC3 | structural maintenance of chromosomes 3 | |
| 9215 | LARGE1 | LARGE xylosyl- and glucuronyltransferase 1 | |
| 9469 | CHST3 | carbohydrate sulfotransferase 3 | |
| 9791 | PTDSS1 | phosphatidylserine synthase 1 | |
| 9896 | FIG4 | FIG4 phosphoinositide 5-phosphatase | |
| 10329 | RXYLT1 | ribitol xylosyltransferase 1 | |
| 10555 | AGPAT2 | 1-acylglycerol-3-phosphate O-acyltransferase 2 | |
| 10585 | POMT1 | protein O-mannosyltransferase 1 | |
| 10682 | EBP | EBP cholestenol delta-isomerase | |
| 11041 | B4GAT1 | beta-1,4-glucuronyltransferase 1 |
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 |
