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
..Intervertebral disc degeneration (HP:0008419)

Term ID:

8419

Name:

Intervertebral disc degeneration

Synonym:

Degeneration of intervertebral discs; Degeneration of intervertebral disks; Degenerative disc disease; Degenerative intervertebral disc; Degenerative intervertebral disk

Definition:

The presence of degenerative changes of intervertebral disk.

Comments:

Reference:

HP:0008419

Genes and Diseases:

Child Nodes:

Sister Nodes:

Herniation of intervertebral nuclei (HP:0008441)

Increased intervertebral space (HP:0030320)

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:0008419	HP:0008419	Intervertebral disc degeneration	0	HGD CL E G H	3081	4892	OMIM:203500	Alkaptonuria	.	77
HP:0008419	HP:0008419	Intervertebral disc degeneration	0	LMNA CL E G H	4000	6636	ORPHA:79474	Atypical Werner syndrome	HP:0040282 - Frequent	645
HP:0008419	HP:0008419	Intervertebral disc degeneration	0	MATN3 CL E G H	4148	6909	ORPHA:93311	Multiple epiphyseal dysplasia type 5	HP:0040283 - Occasional	32
HP:0008419	HP:0008419	Intervertebral disc degeneration	0	SMAD2 CL E G H	4087	6768	OMIM:619656	LOEYS-DIETZ SYNDROME 6; LDS6		7
HP:0008419	HP:0008419	Intervertebral disc degeneration	0	SMAD3 CL E G H	4088	6769	ORPHA:284984	Aneurysm-osteoarthritis syndrome	HP:0040283 - Occasional	260
HP:0008419	HP:0008419	Intervertebral disc degeneration	0	SMAD3 CL E G H	4088	6769	OMIM:613795	LOEYS-DIETZ SYNDROME 3; LDS3		260
HP:0008419	HP:0008419	Intervertebral disc degeneration	0	TBX1 CL E G H	6899	11592	OMIM:188400	Digeorge syndrome		32

Genes (6) :HGD LMNA MATN3 SMAD2 SMAD3 TBX1

Diseases (7) :OMIM:203500 ORPHA:79474 ORPHA:93311 OMIM:619656 ORPHA:284984 OMIM:613795 OMIM:188400

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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