OBO ID: DOID:0070263
Term Name: congenital disorder of glycosylation type IIk Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIk
  • CDG IIk
  • CDG syndrome type IIk
  • CDG2K
  • CDGIIdk
  • Congenital disorder of glycosylation type 2k
  • TMEM165-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM165 on chromosome 4q12. https://www.ncbi.nlm.nih.gov/pubmed/22683087
References:
Ontology: Human Disease   (DOID:0070263)
OTHER congenital disorder of glycosylation type IIk PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM165 Congenital disorder of glycosylation, type IIk 614727
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None