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MIRAGE
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
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| O75970 | Multiple PDZ domain protein | |
| P32004 | Neural cell adhesion molecule L1 | |
| Q92922 | SWI/SNF complex subunit SMARCC1 | |
| Q9P219 | Protein Daple |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q1PSW8 | E3 ubiquitin-protein ligase TRIM71 | |
| Q3TUA9 | Protein O-mannose kinase | |
| Q8CHK3 | Lysophospholipid acyltransferase 7 | |
| Q9QYC0 | Alpha-adducin | |
| Q9R0M0 | Cadherin EGF LAG seven-pass G-type receptor 2 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| P0C152 | Meckelin | |
| P49134 | Integrin beta-1 | |
| Q05695 | Neural cell adhesion molecule L1 |
- 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 |
