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:
Abnormal form of the vertebral bodies (HP:0003312)

Parent Node:
Vertebral arch anomaly (HP:0008438)

..Starting node
..Abnormal vertebral pedicle morphology (HP:0030277)

Term ID:

30277

Name:

Abnormal vertebral pedicle morphology

Synonym:

Definition:

Abnormal morphology of a vertebral pedical.

Comments:

Reference:

HP:0030277

Genes and Diseases:

Child Nodes:

........

Enlarged vertebral pedicles (HP:0004621)

........

Hypoplastic vertebral pedicle (HP:0030278)

................... HP:0030279 Hypoplastic L5 vertebral pedicle

Sister Nodes:

Butterfly vertebral arch (HP:0004617)

Cleft vertebral arch (HP:0004616)

Narrow vertebral interpedicular distance (HP:0008450)

Widened interpedicular distance (HP:0012679)

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:0030277	HP:0030277	Abnormal vertebral pedicle morphology	0	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome		504
HP:0030277	HP:0030278	Hypoplastic vertebral pedicle	1	CL E G H
HP:0030277	HP:0004621	Enlarged vertebral pedicles	1	SMAD4 CL E G H	4089	6770	OMIM:139210	Myhre syndrome	.	504
HP:0030277	HP:0030279	Hypoplastic L5 vertebral pedicle	2	CL E G H

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.