Human Phenotype Ontology

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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:
Abnormality of the vertebral column (HP:0000925)

Parent Node:
Abnormal intervertebral disk morphology (HP:0005108)

..Starting node
..Intervertebral space narrowing (HP:0002945)

Term ID:

2945

Name:

Intervertebral space narrowing

Synonym:

Narrow intervertebral disc spaces; Narrow intervertebral spaces

Definition:

Decreased height of the intervertebral disk.

Comments:

Reference:

HP:0002945

Genes and Diseases:

Child Nodes:

........

Progressive intervertebral space narrowing (HP:0004622)

Sister Nodes:

Herniation of intervertebral nuclei (HP:0008441)

Increased intervertebral space (HP:0030320)

Intervertebral disc degeneration (HP:0008419)

Intervertebral disk calcification (HP:0005645)

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:0002945	HP:0002945	Intervertebral space narrowing	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome
HP:0002945	HP:0002945	Intervertebral space narrowing	0	CHST3 CL E G H	9469	1971	ORPHA:263463	CHST3-related skeletal dysplasia	HP:0040281 - Very frequent	165
HP:0002945	HP:0002945	Intervertebral space narrowing	0	CHST3 CL E G H	9469	1971	OMIM:143095	Spondyloepiphyseal dysplasia with congenital joint dislocations	.	165
HP:0002945	HP:0002945	Intervertebral space narrowing	0	COL2A1 CL E G H	1280	2200	OMIM:609162	Czech dysplasia, Metatarsal type	.	284
HP:0002945	HP:0002945	Intervertebral space narrowing	0	COL2A1 CL E G H	1280	2200	ORPHA:166011	Multiple epiphyseal dysplasia, Beighton type	HP:0040282 - Frequent	284
HP:0002945	HP:0002945	Intervertebral space narrowing	0	COL2A1 CL E G H	1280	2200	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	284
HP:0002945	HP:0002945	Intervertebral space narrowing	0	FN1 CL E G H	2335	3778	ORPHA:93315	Spondylometaphyseal dysplasia, 'corner fracture' type	HP:0040283 - Occasional	9
HP:0002945	HP:0002945	Intervertebral space narrowing	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0002945	HP:0002945	Intervertebral space narrowing	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome		125
HP:0002945	HP:0002945	Intervertebral space narrowing	0	TRAPPC2 CL E G H	6399	23068	ORPHA:93284	Spondyloepiphyseal dysplasia tarda	HP:0040282 - Frequent	46
HP:0002945	HP:0002945	Intervertebral space narrowing	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome
HP:0002945	HP:0004622	Progressive intervertebral space narrowing	1	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0002945	HP:0004622	Progressive intervertebral space narrowing	1	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0002945	HP:0004622	Progressive intervertebral space narrowing	1	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent

Genes (8) :ATP8 CHST3 COL2A1 FN1 LTBP3 RRM2B TRAPPC2 TRNL1

Diseases (8) :ORPHA:480 ORPHA:263463 OMIM:143095 OMIM:609162 ORPHA:166011 ORPHA:93315 OMIM:601216 ORPHA:93284

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

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