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 form of the vertebral bodies (HP:0003312)

Parent Node:
Ovoid vertebral bodies (HP:0003300)

..Starting node
..Anterior rounding of vertebral bodies (HP:0008488)

Term ID:

8488

Name:

Anterior rounding of vertebral bodies

Synonym:

Definition:

Comments:

Reference:

HP:0008488

Genes and Diseases:

Child Nodes:

Sister Nodes:

Ovoid thoracolumbar vertebrae (HP:0003309)

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:0008488	HP:0008488	Anterior rounding of vertebral bodies	0	TBX15 CL E G H	6913	11594	OMIM:260660	Cousin syndrome	.	5

Genes (1) :TBX15

Diseases (1) :OMIM:260660

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