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:
Abnormality of the vertebral column (HP:0000925)

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

..Starting node
..Increased intervertebral space (HP:0030320)

Term ID:

30320

Name:

Increased intervertebral space

Synonym:

Definition:

An increase in the vertical distance between adjacent vertebral bodies, observed as an increase in the intervertebral disc space.

Comments:

Reference:

HP:0030320

Genes and Diseases:

Child Nodes:

Sister Nodes:

Herniation of intervertebral nuclei (HP:0008441)

Intervertebral disc degeneration (HP:0008419)

Intervertebral disk calcification (HP:0005645)

Intervertebral space narrowing (HP:0002945)

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:0030320	HP:0030320	Increased intervertebral space	0	ACP5 CL E G H	54	124	OMIM:607944	Spondyloenchondrodysplasia with immune dysregulation		16
HP:0030320	HP:0030320	Increased intervertebral space	0	EXTL3 CL E G H	2137	3518	ORPHA:508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	HP:0040283 - Occasional	3
HP:0030320	HP:0030320	Increased intervertebral space	0	PLCB3 CL E G H	5331	9056	OMIM:618961	SPONDYLOMETAPHYSEAL DYSPLASIA WITH CORNEAL DYSTROPHY; SMDCD
HP:0030320	HP:0030320	Increased intervertebral space	0	SLC26A2 CL E G H	1836	10994	OMIM:256050	Atelosteogenesis, type II		166
HP:0030320	HP:0030320	Increased intervertebral space	0	TMEM53 CL E G H	79639	26186	OMIM:619727	CRANIOTUBULAR DYSPLASIA, IKEGAWA TYPE; CTDI
HP:0030320	HP:0030320	Increased intervertebral space	0	TRPV4 CL E G H	59341	18083	ORPHA:93314	Spondylometaphyseal dysplasia, Kozlowski type	HP:0040283 - Occasional	214

Genes (6) :ACP5 EXTL3 PLCB3 SLC26A2 TMEM53 TRPV4

Diseases (6) :OMIM:607944 ORPHA:508533 OMIM:618961 OMIM:256050 OMIM:619727 ORPHA:93314

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