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 monocarboxylic acid concentration (HP:0010996)

Parent Node:
Abnormal serum bile acid concentration (HP:0030984)

..Starting node
..Decreased serum bile acid concentration (HP:0030985)

Term ID:

30985

Name:

Decreased serum bile acid concentration

Synonym:

Definition:

A reduction in the concentration of bile acid in the blood.

Comments:

Reference:

HP:0030985

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased serum bile acid concentration (HP:0012202)

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:0030985	HP:0030985	Decreased serum bile acid concentration	0	SLC51B CL E G H	123264	29956	OMIM:619481	BILE ACID MALABSORPTION, PRIMARY, 2; PBAM2
HP:0030985	HP:0034048	Decreased circulating chenodeoxycholic acid concentration	1	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.