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 circulating carbohydrate concentration (HP:0011013)

Parent Node:
Glycopeptiduria (HP:0012067)

..Starting node
..Increased urinary O-linked sialopeptides (HP:0003461)

Term ID:

3461

Name:

Increased urinary O-linked sialopeptides

Synonym:

Definition:

Excretion of peptides conjugated to sialic acid in the urine.

Comments:

Reference:

HP:0003461

Genes and Diseases:

Child Nodes:

Sister Nodes:

Aspartylglucosaminuria (HP:0012068)

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:0003461	HP:0003461	Increased urinary O-linked sialopeptides	0	NAGA CL E G H	4668	7631	OMIM:609242	Kanzaki disease	.	47
HP:0003461	HP:0003461	Increased urinary O-linked sialopeptides	0	NAGA CL E G H	4668	7631	OMIM:609241	Schindler disease, type I	.	47
HP:0003461	HP:0003461	Increased urinary O-linked sialopeptides	0	NEU1 CL E G H	4758	7758	OMIM:256550	Neuraminidase deficiency	.	43
HP:0003461	HP:0003461	Increased urinary O-linked sialopeptides	0	NEU1 CL E G H	4758	7758	ORPHA:812	Sialidosis type 1	HP:0040281 - Very frequent	43

Genes (2) :NAGA NEU1

Diseases (4) :OMIM:609242 OMIM:609241 OMIM:256550 ORPHA:812

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