Human Phenotype Ontology

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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 vertebral morphology (HP:0003468)

Parent Node:
Abnormal form of the vertebral bodies (HP:0003312)

..Starting node
..Biconvex vertebral bodies (HP:0004625)

Term ID:

4625

Name:

Biconvex vertebral bodies

Synonym:

Definition:

Presence of abnormal convexity of the upper and lower end plates of the vertebrae, i.e., an exaggerated bulging out of the upper and lower vertebral end plates.

Comments:

Reference:

HP:0004625

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormality of spinal facet joint (HP:0030870)

Abnormality of the vertebral endplates (HP:0005106)

Abnormality of the vertebral spinous processes (HP:0008516)

Anisospondyly (HP:0002879)

Anterior concavity of thoracic vertebrae (HP:0004611)

Beaking of vertebral bodies (HP:0004568)

Biconcave vertebral bodies (HP:0004586)

Bifid thoracic vertebrae (HP:0008437)

Cuboid-shaped vertebral bodies (HP:0004634)

Disc-like vertebral bodies (HP:0004591)

Hemivertebrae (HP:0002937)

Hypoplastic vertebral bodies (HP:0008479)

Increased vertebral height (HP:0004570)

Irregularity of vertebral bodies (HP:0004582)

Ovoid vertebral bodies (HP:0003300)

Patchy distortion of vertebrae (HP:0004609)

Pear-shaped vertebrae (HP:0004566)

Platyspondyly (HP:0000926)

Sandwich appearance of vertebral bodies (HP:0004618)

Trapezoidal vertebral body (HP:0005621)

Vertebral arch anomaly (HP:0008438)

Vertebral clefting (HP:0008428)

Vertebral wedging (HP:0008422)

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:0004625	HP:0004625	Biconvex vertebral bodies	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0004625	HP:0004625	Biconvex vertebral bodies	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0004625	HP:0004625	Biconvex vertebral bodies	0	RMRP CL E G H	6023	10031	ORPHA:175	Cartilage-hair hypoplasia	HP:0040281 - Very frequent	37
HP:0004625	HP:0004625	Biconvex vertebral bodies	0	RNU4ATAC CL E G H	100151683	34016	ORPHA:353298	Roifman syndrome	HP:0040282 - Frequent	15
HP:0004625	HP:0004625	Biconvex vertebral bodies	0	RNU4ATAC CL E G H	100151683	34016	OMIM:616651	Roifman syndrome		15
HP:0004625	HP:0004625	Biconvex vertebral bodies	0	TRIP11 CL E G H	9321	12305	OMIM:184260	Osteochondrodysplasia	.	133

Genes (5) :COL2A1 FN1 RMRP RNU4ATAC TRIP11

Diseases (5) :ORPHA:93315 ORPHA:175 ORPHA:353298 OMIM:616651 OMIM:184260

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

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