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

..Starting node
..Reduced blood urea nitrogen (HP:0031969)

Term ID:

31969

Name:

Reduced blood urea nitrogen

Synonym:

Reduced BUN

Definition:

An abnormally low concentration of urea nitrogen in the blood.

Comments:

Reference:

HP:0031969

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0031969	HP:0031969	Reduced blood urea nitrogen	0	CTNS CL E G H	1497	2518	OMIM:219800	Cystinosis, nephropathic	178

Genes (1) :CTNS

Diseases (1) :OMIM:219800

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