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Standards Ontologies Notations
non-syndromic X-linked intellectual disability 106

Summary
Synonym
  • MRX106
  • X-linked mental retardation 106
Definition
A non-syndromic X-linked intellectual disability that has_material_basis_in hemizygous mutation in OGT on chromosome Xq13.1.
Super Class
non-syndromic X-linked intellectual disability
Disease Ontology
DOID:0080240
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
8473 OGT O-linked N-acetylglucosamine (GlcNAc) transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
108155 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase (UDP-N-acetylglucosamine:polypeptide-N-acetylglucosaminyl transferase)
Displaying 1 entry
Gene ID Gene Symbol Description Source
26295 Ogt O-linked N-acetylglucosamine (GlcNAc) transferase
Displaying 1 entry
Gene ID Gene Symbol Description Source
35486 sxc super sex combs
Displaying all 2 entries
Gene ID Gene Symbol Description Source
337685 ogt.1 O-linked N-acetylglucosamine (GlcNAc) transferase, tandem duplicate 1
652952 ogt.2 O-linked N-acetylglucosamine (GlcNAc) transferase, tandem duplicate 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
447694 ogt.L O-linked N-acetylglucosamine (GlcNAc) transferase L homeolog Xenopus laevis (African clawed frog)
553157 ogt O-linked N-acetylglucosamine (GlcNAc) transferase Xenopus tropicalis (tropical clawed frog)
Displaying 1 entry
Gene ID Gene Symbol Description Source
176000 ogt-1 UDP-N-acetylglucosamine--peptide N-acetylglucosaminyltransferase;protein O-GlcNAc transferase
The Human Phenotype Ontology
Displaying entries 11 - 19 of 19 in total
HPO ID HPO Term
HP:0001419 X-linked recessive inheritance
HP:0000252 Microcephaly
HP:0008499 High hypermetropia
HP:0000646 Amblyopia
HP:0012471 Thick vermilion border
HP:0000369 Low-set ears
HP:0002236 Frontal upsweep of hair
HP:0000194 Open mouth
HP:0001249 Intellectual disability
Displaying 1 entry
Gene ID Gene Symbol Description
8473 OGT O-linked N-acetylglucosamine (GlcNAc) transferase
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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