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Standards Ontologies Notations
congenital muscular dystrophy-dystroglycanopathy type A2

Summary
Synonym
  • MDDGA2
  • Walker-Warburg syndrome or muscle-eye-brain disease, POMT2-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A2
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMT2 on 14q24.3.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
Disease Ontology
DOID:0111240
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
29954 POMT2 protein O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
217734 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
688673 Pomt2 protein-O-mannosyltransferase 2
Displaying 1 entry
Gene ID Gene Symbol Description Source
31024 tw twisted
Displaying 1 entry
Gene ID Gene Symbol Description Source
563878 pomt2 protein-O-mannosyltransferase 2
Displaying all 2 entries
Gene ID Gene Symbol Description Source Organism
100490100 pomt2 protein-O-mannosyltransferase 2 Xenopus tropicalis (tropical clawed frog)
108698684 pomt2.L protein-O-mannosyltransferase 2 L homeolog Xenopus laevis (African clawed frog)
Displaying all 3 entries
Gene ID Gene Symbol Description Source
851210 PMT2 dolichyl-phosphate-mannose-protein mannosyltransferase PMT2
853113 PMT6 dolichyl-phosphate-mannose-protein mannosyltransferase PMT6
854499 PMT3 dolichyl-phosphate-mannose-protein mannosyltransferase PMT3
The Human Phenotype Ontology
Displaying entries 81 - 88 of 88 in total
HPO ID HPO Term
HP:0003557 Increased variability in muscle fiber diameter
HP:0003577 Congenital onset
HP:0003712 Skeletal muscle hypertrophy
HP:0006829 Severe muscular hypotonia
HP:0007033 Cerebellar dysplasia
HP:0007260 Type II lissencephaly
HP:0009917 Persistent pupillary membrane
HP:0010864 Intellectual disability, severe
Displaying entries 11 - 14 of 14 in total
Gene ID Gene Symbol Description
79147 FKRP fukutin related protein
84197 POMK protein O-mannose kinase
84892 POMGNT2 protein O-linked mannose N-acetylglucosaminyltransferase 2 (beta 1,4-)
9215 LARGE1 LARGE xylosyl- and glucuronyltransferase 1
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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: December 9, 2024