Human Phenotype Ontology

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 form of the vertebral bodies (HP:0003312)

Parent Node:
Vertebral wedging (HP:0008422)

..Starting node
..Posterior wedging of vertebral bodies (HP:0008444)

Term ID:

8444

Name:

Posterior wedging of vertebral bodies

Synonym:

Posterior wedging

Definition:

An abnormality of the shape of vertebrae, such that they are wedge-shaped (narrow towards the back).

Comments:

Reference:

HP:0008444

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior wedging of L1 (HP:0008432)

Anterior wedging of L2 (HP:0011941)

Anterior wedging of T11 (HP:0004573)

Anterior wedging of T12 (HP:0011940)

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:0008444	HP:0008444	Posterior wedging of vertebral bodies	0	SEC23A CL E G H	10484	10701	ORPHA:50814	Craniolenticulosutural dysplasia	HP:0040281 - Very frequent	2
HP:0008444	HP:0008444	Posterior wedging of vertebral bodies	0	SEC23A CL E G H	10484	10701	OMIM:607812	Craniolenticulosutural dysplasia	.	2

Genes (1) :SEC23A

Diseases (2) :ORPHA:50814 OMIM:607812

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