Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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
..Ovoid thoracolumbar vertebrae (HP:0003309)

Term ID:

3309

Name:

Ovoid thoracolumbar vertebrae

Synonym:

Ovoid thoracic and lumbar vertebrae

Definition:

Comments:

Reference:

HP:0003309

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior rounding of vertebral bodies (HP:0008488)

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:0003309	HP:0003309	Ovoid thoracolumbar vertebrae	0	GNS CL E G H	2799	4422	OMIM:252940	Mucopolysaccharidosis, type IIID	.	69
HP:0003309	HP:0003309	Ovoid thoracolumbar vertebrae	0	HGSNAT CL E G H	138050	26527	OMIM:252930	Mucopolysaccharidosis type IIIC	.	86
HP:0003309	HP:0003309	Ovoid thoracolumbar vertebrae	0	NAGLU CL E G H	4669	7632	OMIM:252920	Mucopolysaccharidosis type IIIB	.	72
HP:0003309	HP:0003309	Ovoid thoracolumbar vertebrae	0	SGSH CL E G H	6448	10818	OMIM:252900	Mucopolysaccharidosis type IIIA	.	97

Genes (4) :GNS HGSNAT NAGLU SGSH

Diseases (4) :OMIM:252940 OMIM:252930 OMIM:252920 OMIM:252900

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