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
..Sclerotic vertebral endplates (HP:0004576)

Term ID:

4576

Name:

Sclerotic vertebral endplates

Synonym:

Endplate sclerosis

Definition:

Sclerosis (increased density) affecting vertebral end plates.

Comments:

Reference:

HP:0004576

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hyperconvex vertebral body endplates (HP:0004603)

Irregular vertebral endplates (HP:0003301)

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:0004576	HP:0004576	Sclerotic vertebral endplates	0	CCN6 CL E G H	8838	12771	OMIM:208230	Arthropathy, progressive pseudorheumatoid, of childhood	.
HP:0004576	HP:0004576	Sclerotic vertebral endplates	0	CLCN7 CL E G H	1186	2025	OMIM:611490	Osteopetrosis, autosomal recessive 4	.	102
HP:0004576	HP:0004576	Sclerotic vertebral endplates	0	DMP1 CL E G H	1758	2932	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	48
HP:0004576	HP:0004576	Sclerotic vertebral endplates	0	ENPP1 CL E G H	5167	3356	ORPHA:289176	Autosomal recessive hypophosphatemic rickets	HP:0040281 - Very frequent	151
HP:0004576	HP:0004576	Sclerotic vertebral endplates	0	LRRK1 CL E G H	79705	18608	OMIM:615198	Osteosclerotic metaphyseal dysplasia		1
HP:0004576	HP:0004576	Sclerotic vertebral endplates	0	SOST CL E G H	50964	13771	OMIM:269500	Sclerosteosis 1	.	26

Genes (6) :CCN6 CLCN7 DMP1 ENPP1 LRRK1 SOST

Diseases (5) :OMIM:208230 OMIM:611490 ORPHA:289176 OMIM:615198 OMIM:269500

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