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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 |
|---|---|---|---|
| 84342 | COG8 | component of oligomeric golgi complex 8 | |
| 84892 | POMGNT2 | protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-) | |
| 113189 | CHST14 | carbohydrate sulfotransferase 14 | |
| 145173 | B3GLCT | beta 3-glucosyltransferase | |
| 148789 | B3GALNT2 | beta-1,3-N-acetylgalactosaminyltransferase 2 | |
| 160418 | TMTC3 | transmembrane O-mannosyltransferase targeting cadherins 3 | |
| 285203 | EOGT | EGF domain specific O-linked N-acetylglucosamine transferase | |
| 285362 | SUMF1 | sulfatase modifying factor 1 | |
| 653509 | SFTPA1 | surfactant protein A1 | |
| 729238 | SFTPA2 | surfactant protein A2 |
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 |
