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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 |
|---|---|---|---|
| 34 | ACADM | acyl-CoA dehydrogenase medium chain | |
| 411 | ARSB | arylsulfatase B | |
| 501 | ALDH7A1 | aldehyde dehydrogenase 7 family member A1 | |
| 1312 | COMT | catechol-O-methyltransferase | |
| 1376 | CPT2 | carnitine palmitoyltransferase 2 | |
| 1605 | DAG1 | dystroglycan 1 | |
| 1717 | DHCR7 | 7-dehydrocholesterol reductase | |
| 1718 | DHCR24 | 24-dehydrocholesterol reductase | |
| 2131 | EXT1 | exostosin glycosyltransferase 1 | |
| 2203 | FBP1 | fructose-bisphosphatase 1 |
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 |
