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:
Abnormal intervertebral disk morphology (HP:0005108)

Parent Node:
Intervertebral space narrowing (HP:0002945)

..Starting node
..Progressive intervertebral space narrowing (HP:0004622)

Term ID:

4622

Name:

Progressive intervertebral space narrowing

Synonym:

Definition:

A progressive form of decreased height of the intervertebral disk.

Comments:

Reference:

HP:0004622

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0004622	HP:0004622	Progressive intervertebral space narrowing	0	ATP8 CL E G H	4509	7415	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent
HP:0004622	HP:0004622	Progressive intervertebral space narrowing	0	RRM2B CL E G H	50484	17296	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent	125
HP:0004622	HP:0004622	Progressive intervertebral space narrowing	0	TRNL1 CL E G H	4567	7490	ORPHA:480	Kearns-Sayre syndrome	HP:0040282 - Frequent

Genes (3) :ATP8 RRM2B TRNL1

Diseases (1) :ORPHA:480

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