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 hormone concentration (HP:0003117)

Parent Node:
Abnormal circulating osteocalcin level (HP:0031427)

..Starting node
..Decreased circulating osteocalcin level (HP:0031429)

Term ID:

31429

Name:

Decreased circulating osteocalcin level

Synonym:

Definition:

A reduced level of osteocalcin in the blood.

Comments:

Reference:

HP:0031429

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased circulating osteocalcin level (HP:0031428)

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:0031429	HP:0031429	Decreased circulating osteocalcin level	0	AVP CL E G H	551	894	OMIM:125700	Diabetes insipidus, Neurohypophyseal type	.	22
HP:0031429	HP:0031429	Decreased circulating osteocalcin level	0	CCDC134 CL E G H	79879	26185	OMIM:619795	OSTEOGENESIS IMPERFECTA, TYPE XXII; OI22

Genes (2) :AVP CCDC134

Diseases (2) :OMIM:125700 OMIM:619795

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