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:
Synostosis of joints (HP:0100240)

Grandparent Node:
Vertebral segmentation defect (HP:0003422)

Parent Node:
Vertebral fusion (HP:0002948)

..Starting node
..Anterior vertebral fusion (HP:0004557)

Term ID:

4557

Name:

Anterior vertebral fusion

Synonym:

Definition:

Comments:

Reference:

HP:0004557

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal vertebral segmentation and fusion (HP:0005640)

Block vertebrae (HP:0003305)

Fused cervical vertebrae (HP:0002949)

Fused lumbar vertebrae (HP:0030040)

Fused thoracic vertebrae (HP:0030039)

Posterior fusion of lumbosacral vertebrae (HP:0005626)

Sacralization of the fifth lumbar vertebra (HP:0030125)

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:0004557	HP:0004557	Anterior vertebral fusion	0	COL2A1 CL E G H	1280	2200	ORPHA:485	Kniest dysplasia	HP:0040283 - Occasional	284

Genes (1) :COL2A1

Diseases (1) :ORPHA:485

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