Joubert syndrome 1

Summary
Synonym
  • CORS1
  • CPD4
  • JBTS1
  • cerebellooculorenal syndrome 1
  • cerebelloparenchymal disorder IV
Definition
A Joubert syndrome that has_material_basis_in homozygous mutation in the INPP5E gene on chromosome 9q34.
Super Class
Joubert syndrome
External Links
Disease Ontology
DOID:0110980
Mondo Disease Ontology
OMIM
Related Genes
Displaying all 5 entries
Gene ID Gene Symbol Description Source
2998 GYS2 glycogen synthase 2
3633 INPP5B inositol polyphosphate-5-phosphatase B
8867 SYNJ1 synaptojanin 1
8871 SYNJ2 synaptojanin 2
56623 INPP5E inositol polyphosphate-5-phosphatase E
Displaying 1 entry
Gene ID Gene Symbol Description Source
39404 INPP5E Inositol polyphosphate 5-phosphatase E
The Human Phenotype Ontology
Displaying entries 1 - 10 of 76 in total
HPO ID HPO Term
HP:0001251 Ataxia
HP:0002876 Episodic tachypnea
HP:0000508 Ptosis
HP:0002084 Encephalocele
HP:0000369 Low-set ears
HP:0002269 Abnormality of neuronal migration
HP:0000864 Abnormality of the hypothalamus-pituitary axis
HP:0008872 Feeding difficulties in infancy
HP:0001320 Cerebellar vermis hypoplasia
HP:0000238 Hydrocephalus
Displaying 1 entry
Gene ID Gene Symbol Description
56623 INPP5E inositol polyphosphate-5-phosphatase E

About Release Notes Help Feedback

Click here to visit the beta site.


International Collaboration

GlyCosmos is a member of the GlySpace Alliance together with GlyGen and Glycomics@ExPASy.

Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

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


Logo License Policies Site Map

Contact: support@glycosmos.org

This work is licensed under Creative Commons Attribution 4.0 International


GlyCosmos Portal v4.0.0

Last updated: August 19, 2024