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:
Elevated circulating alkaline phosphatase concentration (HP:0003155)

Parent Node:
Elevated tissue non-specific alkaline phosphatase (HP:0010679)

..Starting node
..Elevated alkaline phosphatase of hepatic origin (HP:0010638)

Term ID:

10638

Name:

Elevated alkaline phosphatase of hepatic origin

Synonym:

Elevated ALP of hepatic origin

Definition:

An abnormally increased level of liver isoforms of alkaline phosphatase, tissue-nonspecific isozyme in the blood.

Comments:

Reference:

HP:0010638

Genes and Diseases:

Child Nodes:

Sister Nodes:

Elevated alkaline phosphatase of bone origin (HP:0010639)

Elevated alkaline phosphatase of renal origin (HP:0010680)

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:0010638	HP:0010638	Elevated alkaline phosphatase of hepatic origin	0	GPR35 CL E G H	2859	4492	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	2
HP:0010638	HP:0010638	Elevated alkaline phosphatase of hepatic origin	0	MST1 CL E G H	4485	7380	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	1
HP:0010638	HP:0010638	Elevated alkaline phosphatase of hepatic origin	0	SEMA4D CL E G H	10507	10732	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent
HP:0010638	HP:0010638	Elevated alkaline phosphatase of hepatic origin	0	TCF4 CL E G H	6925	11634	ORPHA:171	Primary sclerosing cholangitis	HP:0040282 - Frequent	241

Genes (4) :GPR35 MST1 SEMA4D TCF4

Diseases (1) :ORPHA:171

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