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 arch anomaly (HP:0008438)

Parent Node:
Abnormal vertebral pedicle morphology (HP:0030277)

..Starting node
..Enlarged vertebral pedicles (HP:0004621)

Term ID:

4621

Name:

Enlarged vertebral pedicles

Synonym:

Hyperplastic vertebral pedicles

Definition:

Increased size of the vertebral pedicle.

Comments:

Reference:

HP:0004621

Genes and Diseases:

Child Nodes:

Sister Nodes:

Hypoplastic vertebral pedicle (HP:0030278)

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:0004621	HP:0004621	Enlarged vertebral pedicles	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504

Genes (1) :SMAD4

Diseases (1) :OMIM:139210

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