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Standards Ontologies Notations
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
Displaying entry 81 - 81 of 81 in total
Gene ID Gene Symbol Description Source
729920 CRPPA CDP-L-ribitol pyrophosphorylase A
Displaying all 3 entries
Gene ID Gene Symbol Description Source
15289 Hmgb1 high mobility group box 1
19013 Ppara peroxisome proliferator activated receptor alpha
74653 Pomk protein-O-mannose kinase
Displaying all 3 entries
Gene ID Gene Symbol Description Source
25459 Hmgb1 high mobility group box 1
25747 Ppara peroxisome proliferator activated receptor alpha
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
Related Glycoprotein
The Human Phenotype Ontology
Displaying entry 21 - 21 of 21 in total
HPO ID HPO Term
HP:0007016 Corticospinal tract hypoplasia
Displaying 1 entry
Gene ID Gene Symbol Description
3897 L1CAM L1 cell adhesion molecule
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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01

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Last updated: August 19, 2024