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:
Abnormality of the vertebral endplates (HP:0005106)

Parent Node:
Irregular vertebral endplates (HP:0003301)

..Starting node
..Irregular sclerotic endplates (HP:0008476)

Term ID:

8476

Name:

Irregular sclerotic endplates

Synonym:

irregular, dense end plate

Definition:

Comments:

Reference:

HP:0008476

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hump-shaped mound of bone in central and posterior portions of vertebral endplate (HP:0004594)

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:0008476	HP:0008476	Irregular sclerotic endplates	0	MMP13 CL E G H	4322	7159	OMIM:602111	Spondyloepimetaphyseal dysplasia, Missouri type	.	52
HP:0008476	HP:0008476	Irregular sclerotic endplates	0	POLR3A CL E G H	11128	30074	ORPHA:3455	Wiedemann-Rautenstrauch syndrome	HP:0040282 - Frequent	138

Genes (2) :MMP13 POLR3A

Diseases (2) :OMIM:602111 ORPHA:3455

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