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:
Vertebral arch anomaly (HP:0008438)

Parent Node:
Narrow vertebral interpedicular distance (HP:0008450)

..Starting node
..Thoracolumbar interpediculate narrowness (HP:0008484)

Term ID:

8484

Name:

Thoracolumbar interpediculate narrowness

Synonym:

Narrow thoracolumbar interpediculate distance

Definition:

A reduction of the distance between thoracolumbar vertebral pedicles.

Comments:

Reference:

HP:0008484

Genes and Diseases:

Child Nodes:

Sister Nodes:

Caudal interpedicular narrowing (HP:0008457)

Lower thoracic interpediculate narrowness (HP:0008470)

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:0008484	HP:0008484	Thoracolumbar interpediculate narrowness	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53

Genes (1) :NPR2

Diseases (1) :OMIM:602875

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