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
..Herniation of intervertebral nuclei (HP:0008441)

Term ID:

8441

Name:

Herniation of intervertebral nuclei

Synonym:

Herniated disc; Herniated disk; Herniated intervertebral nuclei

Definition:

The presence of one or more herniated nucleus pulposus of intervertebral disk.

Comments:

Reference:

HP:0008441

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased intervertebral space (HP:0030320)

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:0008441	HP:0008441	Herniation of intervertebral nuclei	0	LTBP3 CL E G H	4054	6716	OMIM:601216	Dental anomalies and short stature	.	12
HP:0008441	HP:0008441	Herniation of intervertebral nuclei	0	MAP3K7 CL E G H	6885	6859	OMIM:157800	Cardiospondylocarpofacial syndrome		11

Genes (2) :LTBP3 MAP3K7

Diseases (2) :OMIM:601216 OMIM:157800

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