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:
Abnormality of the vertebral endplates (HP:0005106)

..Starting node
..Hyperconvex vertebral body endplates (HP:0004603)

Term ID:

4603

Name:

Hyperconvex vertebral body endplates

Synonym:

Definition:

Comments:

Reference:

HP:0004603

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular vertebral endplates (HP:0003301)

Sclerotic vertebral endplates (HP:0004576)

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:0004603	HP:0004603	Hyperconvex vertebral body endplates	0	CCN6 CL E G H	8838	12771	ORPHA:1159	Progressive pseudorheumatoid arthropathy of childhood	HP:0040282 - Frequent
HP:0004603	HP:0004603	Hyperconvex vertebral body endplates	0	COL2A1 CL E G H	1280	2200	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	284
HP:0004603	HP:0004603	Hyperconvex vertebral body endplates	0	FN1 CL E G H	2335	3778	OMIM:184255	Spondylometaphyseal dysplasia, corner Fracture type	.	9
HP:0004603	HP:0004603	Hyperconvex vertebral body endplates	0	TONSL CL E G H	4796	7801	ORPHA:93357	SPONASTRIME dysplasia	HP:0040283 - Occasional

Genes (4) :CCN6 COL2A1 FN1 TONSL

Diseases (3) :ORPHA:1159 OMIM:184255 ORPHA:93357

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