Human Phenotype Ontology 
Grandparent Node:
expandAbnormality of metabolism/homeostasis (HP:0001939)help
Parent Node:
expandobsolete Abnormality of glycoprotein metabolism (HP:0004367)help
..Starting node
..expandReduced level of N-acetylglucosaminyltransferase II (HP:0003655)help
Term ID: 3655
Name: Reduced level of N-acetylglucosaminyltransferase II
Synonym: Deficient N-acetylglucosaminyltransferase II
Definition: An abnormality of glycoprotein metabolism related to a decreased level of alpha-1,6-mannosylglycoprotein 2-beta-N-acetylglucosaminyltransferase activity.
Comments:
Reference: HP:0003655
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandobsolete Abnormality of proteoglycan metabolism (HP:0004355) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0003655HP:0003655Reduced level of N-acetylglucosaminyltransferase II0CDAN1 CL E G H1460591713OMIM:224120Anemia, congenital dyserythropoietic, type Ia.86
HP:0003655HP:0003655Reduced level of N-acetylglucosaminyltransferase II0MGAT2 CL E G H42477045ORPHA:79329MGAT2-CDGHP:0040281 - Very frequent39
HP:0003655HP:0003655Reduced level of N-acetylglucosaminyltransferase II0SEC23B CL E G H1048310702OMIM:224100Anemia, dyserythropoietic congenital, type II.60


Genes (3) :CDAN1 MGAT2 SEC23B

Diseases (3) :OMIM:224120 ORPHA:79329 OMIM:224100
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.