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Standards Ontologies Notations
Joubert syndrome 20

Summary
Synonym
  • JBTS20
Definition
A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.
Super Class
Joubert syndrome
Disease Ontology
DOID:0110989
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
79583 TMEM231 transmembrane protein 231
Displaying 1 entry
Gene ID Gene Symbol Description Source
234740 Tmem231 transmembrane protein 231
Displaying 1 entry
Gene ID Gene Symbol Description Source
361410 Tmem231 transmembrane protein 231
Displaying 1 entry
Gene ID Gene Symbol Description Source
393358 tmem231 transmembrane protein 231
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
100145127 tmem231 transmembrane protein 231 Xenopus tropicalis (tropical clawed frog)
The Human Phenotype Ontology
Displaying entries 31 - 40 of 47 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
HP:0000175 Cleft palate
HP:0000368 Low-set, posteriorly rotated ears
HP:0000480 Retinal coloboma
Displaying 1 entry
Gene ID Gene Symbol Description
56623 INPP5E inositol polyphosphate-5-phosphatase E
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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

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Last updated: December 9, 2024