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 cervical spine (HP:0003319)

Parent Node:
Cervical subluxation (HP:0003308)

..Starting node
..C2-C3 subluxation (HP:0008456)

Term ID:

8456

Name:

C2-C3 subluxation

Synonym:

Definition:

A partial dislocation of the intervertebral joint between the second and third cervical vertebrae.

Comments:

Reference:

HP:0008456

Genes and Diseases:

Child Nodes:

Sister Nodes:

C1-C2 subluxation (HP:0003320)

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:0008456	HP:0008456	C2-C3 subluxation	0	FLNB CL E G H	2317	3755	OMIM:272460	Spondylocarpotarsal synostosis syndrome	.	233

Genes (1) :FLNB

Diseases (1) :OMIM:272460

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