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 skeletal morphology (HP:0011842)

Parent Node:
Abnormal vertebral morphology (HP:0003468)

Parent Node:
Hyperostosis (HP:0100774)

..Starting node
..Vertebral hyperostosis (HP:0008442)

Term ID:

8442

Name:

Vertebral hyperostosis

Synonym:

Definition:

Excessive growth of the bones of the vertebral bodies.

Comments:

Reference:

HP:0008442

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cranial hyperostosis (HP:0004437)

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:0008442	HP:0008442	Vertebral hyperostosis	0	GJA1 CL E G H	2697	4274	OMIM:164200	Oculodentodigital dysplasia	.	68
HP:0008442	HP:0008442	Vertebral hyperostosis	0	PHEX CL E G H	5251	8918	ORPHA:89936	X-linked hypophosphatemia	HP:0040283 - Occasional	217

Genes (2) :GJA1 PHEX

Diseases (2) :OMIM:164200 ORPHA:89936

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