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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 |
|---|---|---|---|
| 2218 | FKTN | fukutin | |
| 2581 | GALC | galactosylceramidase | |
| 2629 | GBA1 | glucosylceramidase beta 1 | |
| 2719 | GPC3 | glypican 3 | |
| 2720 | GLB1 | galactosidase beta 1 | |
| 2731 | GLDC | glycine decarboxylase | |
| 2752 | GLUL | glutamate-ammonia ligase | |
| 2990 | GUSB | glucuronidase beta | |
| 3295 | HSD17B4 | hydroxysteroid 17-beta dehydrogenase 4 | |
| 3423 | IDS | iduronate 2-sulfatase |
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 |
