Human Phenotype Ontology

About
MSeqDR-LSDB
Tools
- Quick-Mitome for WES
- Quick-Mitome
- Quick-Mitome Report
- mtDNA Tool:
- mvTool
- Phy-Mer
- MToolBox
- mvTool for Haplogroup
- mvTool with HmtDB
- MitoMaster
- MitoTIP tRNA Scoring
- MSeq-OpenCGA
- Variant Tool:
- VariantOneStop
- HBCR Exome (Retired)
- POLG Patho. Server
- Data - Awsomics GeEx
- Expert Panel
- Panel Tool:
- Gene Panel Examiner
- Transgenomic_NuclearMitome
- Pedigree Maker
- json2table
Phenome-Disease
Collaboration
- Genesis (GEM.App)
- LeighMap
- Expert Panel
- Collaboration Zone
Submission
- Submit_Interpret_Variant
- Instructions

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 arch anomaly (HP:0008438)

..Starting node
..Narrow vertebral interpedicular distance (HP:0008450)

Term ID:

8450

Name:

Narrow vertebral interpedicular distance

Synonym:

Interpedicular narrowing; Narrow interpedicular space; Narrow interpediculate distances; Narrowing of interpediculate distances

Definition:

A reduction of the distance between vertebral pedicles, which are the two short, thick processes, which project backward, one on either side, from the upper part of the vertebral body, at the junction of its posterior and lateral surfaces.

Comments:

Reference:

HP:0008450

Genes and Diseases:

Child Nodes:

........

Caudal interpedicular narrowing (HP:0008457)

................... HP:0008486 Lumbar interpedicular narrowing

........

Lower thoracic interpediculate narrowness (HP:0008470)

........

Thoracolumbar interpediculate narrowness (HP:0008484)

Sister Nodes:

Abnormal vertebral pedicle morphology (HP:0030277)

Butterfly vertebral arch (HP:0004617)

Cleft vertebral arch (HP:0004616)

Widened interpedicular distance (HP:0012679)

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:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	DDRGK1 CL E G H	65992	16110	OMIM:602557	Spondyloepimetaphyseal dysplasia, Shohat type	.
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	DDRGK1 CL E G H	65992	16110	ORPHA:93352	Spondyloepimetaphyseal dysplasia, Shohat type	HP:0040283 - Occasional
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	EXOC6B CL E G H	23233	17085	OMIM:618395	Spondyloepimetaphyseal dysplasia with joint laxity, type 3		3
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	FGFR3 CL E G H	2261	3690	OMIM:100800	ACHONDROPLASIA		145
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta		240
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	HNRNPR CL E G H	10236	5047	OMIM:620073
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2		14
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type		53
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	PDE4D CL E G H	5144	8783	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	113
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome		113
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	PRKAR1A CL E G H	5573	9388	OMIM:101800	Acrodysostosis 1, with or without hormone resistance		134
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	PRKAR1A CL E G H	5573	9388	ORPHA:280651	Acrodysostosis with multiple hormone resistance	HP:0040281 - Very frequent	134
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	RMRP CL E G H	6023	10031	OMIM:250250	Cartilage-Hair hypoplasia	.	37
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	SLC35D1 CL E G H	23169	20800	OMIM:269250	Schneckenbecken dysplasia		9
HP:0008450	HP:0008450	Narrow vertebral interpedicular distance	0	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0008450	HP:0008470	Lower thoracic interpediculate narrowness	1	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0008450	HP:0008457	Caudal interpedicular narrowing	1	KIF22 CL E G H	3835	6391	OMIM:603546	Spondyloepimetaphyseal dysplasia with joint laxity, type 2	.	14
HP:0008450	HP:0008484	Thoracolumbar interpediculate narrowness	1	NPR2 CL E G H	4882	7944	OMIM:602875	Acromesomelic dysplasia, Maroteaux type	.	53
HP:0008450	HP:0008457	Caudal interpedicular narrowing	1	PDE4D CL E G H	5144	8783	ORPHA:439822	PDE4D haploinsufficiency syndrome	HP:0040283 - Occasional	113
HP:0008450	HP:0008457	Caudal interpedicular narrowing	1	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type
HP:0008450	HP:0008486	Lumbar interpedicular narrowing	2	TONSL CL E G H	4796	7801	OMIM:271510	Spondyloepimetaphyseal dysplasia, Sponastrime type	.

Genes (14) :CHST3 DDRGK1 EXOC6B FGFR3 GNPTAB HNRNPR KIF22 LTBP3 NPR2 PDE4D PRKAR1A RMRP SLC35D1 TONSL

Diseases (16) :OMIM:143095 OMIM:602557 ORPHA:93352 OMIM:618395 OMIM:100800 OMIM:252500 OMIM:620073 OMIM:603546 OMIM:601216 OMIM:602875 ORPHA:280651 ORPHA:439822 OMIM:101800 OMIM:250250 OMIM:269250 OMIM:271510

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

Feedback about the webpages , or email to MSeqDR webmaster: Lishuang Shen