Reduced activity of N-acetylglucosaminyltransferase II

Symptom Information:

Symptom ID: HPO:0003655
Synonyms:
Deficient N-acetylglucosaminyltransferase II [HPO:0003655]
Deficient N-acetylglucosaminyltransferase II [OMIM:Deficient N-acetylglucosaminyltransferase II]
Quality:
Cross references:
OMIM: "Deficient N-acetylglucosaminyltransferase II" [OMIM:Deficient N-acetylglucosaminyltransferase II]
Is a (Direct Parents):
HPO         Abnormality of glycoprotein metabolism
Is a (Whole tree): HPO:
All(HPO:0000001)
    Phenotypic abnormality(HPO:0000118)
       Abnormality of metabolism/homeostasis(HPO:0001939)
          Abnormality of glycoprotein metabolism(HPO:0004367)
             Reduced activity of N-acetylglucosaminyltransferase II(HPO:0003655)
MedDRA:
Database Frequency: 2 / 7739
Resource:

All diseases associated with this symptom:

Congenital dyserythropoietic anemia type I (Orphanet:98869)
Congenital dyserythropoietic anemia type II (Orphanet:98873)