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Joubert syndrome 16

Summary
Synonym
  • JBTS16
Definition
A Joubert syndrome characterized by molar tooth sign on brain imaging, oculomotor apraxia, variable coloboma, and rare kidney involvement that has_material_basis_in homozygous mutation in the TMEM138 gene on chromosome 11q.
Super Class
Joubert syndrome
External Links
Disease Ontology
DOID:0110985
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
51524 TMEM138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source
72982 Tmem138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source
361728 Tmem138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source
100332440 tmem138 transmembrane protein 138
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
493444 tmem138 transmembrane protein 138 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 31 - 37 of 37 in total
HPO ID HPO Term
HP:0001829 Foot polydactyly
HP:0000276 Long face
HP:0001288 Gait disturbance
HP:0002251 Aganglionic megacolon
HP:0000657 Oculomotor apraxia
HP:0008872 Feeding difficulties in infancy
HP:0030680 Abnormal cardiovascular system morphology
Displaying 1 entry
Gene ID Gene Symbol Description
56623 INPP5E inositol polyphosphate-5-phosphatase E
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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

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Last updated: August 19, 2024