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
..Progressive cervical vertebral spine fusion (HP:0008449)

Term ID:

8449

Name:

Progressive cervical vertebral spine fusion

Synonym:

Definition:

Comments:

Reference:

HP:0008449

Genes and Diseases:

Child Nodes:

Sister Nodes:

Cervical C2/C3 vertebral fusion (HP:0004602)

Cervical C3/C4 vertebral fusion (HP:0030281)

Cervical C5/C6 vertebrae fusion (HP:0004635)

Fusion of midcervical facet joints (HP:0004575)

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:0008449	HP:0008449	Progressive cervical vertebral spine fusion	0	ACVR1 CL E G H	90	171	OMIM:135100	Fibrodysplasia ossificans progressiva	.	49

Genes (1) :ACVR1

Diseases (1) :OMIM:135100

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