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
..Decreased circulating chenodeoxycholic acid concentration (HP:0034048)

Term ID:

34048

Name:

Decreased circulating chenodeoxycholic acid concentration

Synonym:

Decreased circulating chenodiol concentration

Definition:

A reduced concentration of chenodeoxycholic acid in the blood circulation.

Comments:

Reference:

HP:0034048

Genes and Diseases:

Child Nodes:

Sister Nodes:

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0034048	HP:0034048	Decreased circulating chenodeoxycholic acid concentration	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2

Genes (1) :SLC51B

Diseases (1) :OMIM:619481

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