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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 |
|---|---|---|---|
| 6599 | SMARCC1 | SWI/SNF related BAF chromatin remodeling complex subunit C1 | |
| 8777 | MPDZ | multiple PDZ domain crumbs cell polarity complex component | |
| 54768 | HYDIN | HYDIN axonemal central pair apparatus protein | |
| 55582 | KIF27 | kinesin family member 27 | |
| 79143 | MBOAT7 | membrane bound O-acyltransferase domain containing 7 | |
| 84197 | POMK | protein O-mannose kinase | |
| 91147 | TMEM67 | transmembrane protein 67 | |
| 339829 | CCDC39 | coiled-coil domain 39 molecular ruler complex subunit | |
| 440193 | CCDC88C | coiled-coil domain containing 88C |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 53883 | Celsr2 | cadherin, EGF LAG seven-pass G-type receptor 2 | |
| 74653 | Pomk | protein-O-mannose kinase | |
| 77582 | Mboat7 | membrane bound O-acyltransferase domain containing 7 | |
| 329795 | Tmem67 | transmembrane protein 67 | |
| 636931 | Trim71 | tripartite motif-containing 71 |
| Gene ID | Gene Symbol | Description | Source |
|---|---|---|---|
| 24170 | Add1 | adducin 1 | |
| 24511 | Itgb1 | integrin subunit beta 1 | |
| 25240 | Aqp1 | aquaporin 1 | |
| 25293 | Aqp4 | aquaporin 4 | |
| 25459 | Hmgb1 | high mobility group box 1 | |
| 25747 | Ppara | peroxisome proliferator activated receptor alpha | |
| 50687 | L1cam | L1 cell adhesion molecule | |
| 63868 | Hspd1 | heat shock protein family D (Hsp60) member 1 | |
| 81737 | Ntf3 | neurotrophin 3 | |
| 306549 | Pomk | protein-O-mannose kinase |
- 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:0000256 | Macrocephaly |
| HP:0007016 | Corticospinal tract hypoplasia |
| HP:0001419 | X-linked recessive inheritance |
| HP:0001249 | Intellectual disability |
| HP:0001258 | Spastic paraplegia |
