Human Phenotype Ontology

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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Grandparent Node:
Abnormal protein glycosylation (HP:0012346)

Parent Node:
Abnormal protein N-linked glycosylation (HP:0012347)

..Starting node
..Decreased galactosylation of N-linked protein glycosylation (HP:0012348)

Term ID:

12348

Name:

Decreased galactosylation of N-linked protein glycosylation

Synonym:

Definition:

A reduction in the amount of galactose residues of N-glycans.

Comments:

Reference:

HP:0012348

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal fucosylation of protein N-linked glycosylation (HP:0012352)

Abnormal isoelectric focusing of serum transferrin (HP:0003160)

Abnormal mannosylation of N-linked protein glycosylation (HP:0012355)

Abnormal sialylation of N-linked protein glycosylation (HP:0012349)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	Frequency	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0012348	HP:0012348	Decreased galactosylation of N-linked protein glycosylation	0	SLC35A2 CL E G H	7355	11022	ORPHA:356961	SLC35A2-CDG	HP:0040282 - Frequent	27

Genes (1) :SLC35A2

Diseases (1) :ORPHA:356961

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