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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 |
|---|---|---|---|
| 3425 | IDUA | alpha-L-iduronidase | |
| 3897 | L1CAM | L1 cell adhesion molecule | |
| 4534 | MTM1 | myotubularin 1 | |
| 4907 | NT5E | 5'-nucleotidase ecto | |
| 4952 | OCRL | OCRL inositol polyphosphate-5-phosphatase | |
| 4967 | OGDH | oxoglutarate dehydrogenase | |
| 5048 | PAFAH1B1 | platelet activating factor acetylhydrolase 1b regulatory subunit 1 | |
| 5160 | PDHA1 | pyruvate dehydrogenase E1 subunit alpha 1 | |
| 5290 | PIK3CA | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha | |
| 5291 | PIK3CB | phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit beta |
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 |
