OBO ID: DOID:0070268
Term Name: congenital disorder of glycosylation type IIp Search Ontology:
Synonyms:
  • Carbohydrate deficient glycoprotein syndrome type IIp
  • CDG IIp
  • CDG syndrome type IIp
  • CDG2P
  • CDGIIdp
  • Congenital disorder of glycosylation type 2p
  • TMEM199-CDG
Definition: A congenital disorder of glycosylation type II that has_material_basis_in an autosomal recessive mutation of TMEM199 on chromosome 17q11.2. https://www.ncbi.nlm.nih.gov/pubmed/26833330
References:
Ontology: Human Disease   (DOID:0070268)
OTHER congenital disorder of glycosylation type IIp PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
TMEM199 Congenital disorder of glycosylation, type IIp 616829
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None