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:
Vertebral fusion (HP:0002948)

Parent Node:
Fused cervical vertebrae (HP:0002949)

..Starting node
..Cervical C5/C6 vertebrae fusion (HP:0004635)

Term ID:

4635

Name:

Cervical C5/C6 vertebrae fusion

Synonym:

Definition:

Fusion of the C5 and C6 cervical vertebrae.

Comments:

Reference:

HP:0004635

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical C2/C3 vertebral fusion (HP:0004602)

Cervical C3/C4 vertebral fusion (HP:0030281)

Fusion of midcervical facet joints (HP:0004575)

Progressive cervical vertebral spine fusion (HP:0008449)

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:0004635	HP:0004635	Cervical C5/C6 vertebrae fusion	0	FGFR2 CL E G H	2263	3689	ORPHA:87	Apert syndrome	HP:0040282 - Frequent	175
HP:0004635	HP:0004635	Cervical C5/C6 vertebrae fusion	0	FGFR2 CL E G H	2263	3689	OMIM:101200	Apert syndrome	.	175
HP:0004635	HP:0004635	Cervical C5/C6 vertebrae fusion	0	GDF3 CL E G H	9573	4218	OMIM:613702	Klippel-Feil syndrome 3, autosomal dominant	.	7

Genes (2) :FGFR2 GDF3

Diseases (3) :ORPHA:87 OMIM:101200 OMIM:613702

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