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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 |
|---|---|---|---|
| 22854 | NTNG1 | netrin G1 | |
| 23483 | TGDS | TDP-glucose 4,6-dehydratase | |
| 23556 | PIGN | phosphatidylinositol glycan anchor biosynthesis class N | |
| 26229 | B3GAT3 | beta-1,3-glucuronyltransferase 3 | |
| 26275 | HIBCH | 3-hydroxyisobutyryl-CoA hydrolase | |
| 26503 | SLC17A5 | solute carrier family 17 member 5 | |
| 27255 | CNTN6 | contactin 6 | |
| 29925 | GMPPB | GDP-mannose pyrophosphorylase B | |
| 29954 | POMT2 | protein O-mannosyltransferase 2 | |
| 53942 | CNTN5 | contactin 5 |
Related Glycoprotein
- The Human Phenotype Ontology
| HPO ID | HPO Term |
|---|---|
| HP:0001181 | Adducted thumb |
| HP:0010864 | Intellectual disability, severe |
| HP:0001257 | Spasticity |
| HP:0000486 | Strabismus |
| HP:0001387 | Joint stiffness |
| HP:0001249 | Intellectual disability |
| HP:0009600 | Thumb contracture |
| HP:0000256 | Macrocephaly |
| HP:0001258 | Spastic paraplegia |
| HP:0001419 | X-linked recessive inheritance |
