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

Term ID:

4594

Name:

Hump-shaped mound of bone in central and posterior portions of vertebral endplate

Synonym:

Definition:

Comments:

Reference:

HP:0004594

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular sclerotic endplates (HP:0008476)

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:0004594	HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040281 - Very frequent	46
HP:0004594	HP:0004594	Hump-shaped mound of bone in central and posterior portions of vertebral endplate	0	TRAPPC2 CL E G H	6399	23068	OMIM:313400	Spondyloepiphyseal dysplasia tarda, X-linked	.	46

Genes (1) :TRAPPC2

Diseases (2) :ORPHA:93284 OMIM:313400

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