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
..Aspartylglucosaminuria (HP:0012068)

Term ID:

12068

Name:

Aspartylglucosaminuria

Synonym:

High urine aspartylglucosamine levels

Definition:

Excretion of excess amounts of aspartylglucosamine in the urine.

Comments:

Reference:

HP:0012068

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased urinary O-linked sialopeptides (HP:0003461)

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:0012068	HP:0012068	Aspartylglucosaminuria	0	AGA CL E G H	175	318	ORPHA:93	Aspartylglucosaminuria	HP:0040281 - Very frequent	76
HP:0012068	HP:0012068	Aspartylglucosaminuria	0	AGA CL E G H	175	318	OMIM:208400	ASPARTYLGLUCOSAMINURIA	.	76

Genes (1) :AGA

Diseases (2) :ORPHA:93 OMIM:208400

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