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Standards Ontologies Notations
congenital muscular dystrophy-dystroglycanopathy type A12

Summary
Synonym
  • MDDGA12
  • Walker-Warburg syndrome or muscle-eye-brain disease POMK-related
  • congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies type A12
Definition
A congenital muscular dystrophy-dystroglycanopathy type A that has_material_basis_in homozygous or compound heterozygous mutation in POMK on 8p11.21.
Super Class
congenital muscular dystrophy-dystroglycanopathy type A
Disease Ontology
DOID:0111235
Mondo Disease Ontology
OMIM
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
84197 POMK protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
74653 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
306549 Pomk protein-O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source
492773 pomk protein O-mannose kinase
Displaying 1 entry
Gene ID Gene Symbol Description Source Organism
496338 pomk.L protein-O-mannose kinase L homeolog Xenopus laevis (African clawed frog)
The Human Phenotype Ontology
Displaying entries 1 - 10 of 68 in total
HPO ID HPO Term
HP:0000028 Cryptorchidism
HP:0000175 Cleft palate
HP:0000176 Submucous cleft hard palate
HP:0000193 Bifid uvula
HP:0000238 Hydrocephalus
HP:0000252 Microcephaly
HP:0000256 Macrocephaly
HP:0000358 Posteriorly rotated ears
HP:0000369 Low-set ears
HP:0000411 Protruding ear
Displaying entries 11 - 13 of 13 in total
Gene ID Gene Symbol Description
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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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