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
..Butterfly vertebral arch (HP:0004617)

Term ID:

4617

Name:

Butterfly vertebral arch

Synonym:

Definition:

Butterfly vertebrae have a cleft through the body of the vertebrae and a funnel shape at the ends.

Comments:

Reference:

HP:0004617

Genes and Diseases:

Child Nodes:

Sister Nodes:

Abnormal vertebral pedicle morphology (HP:0030277)

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:0004617	HP:0004617	Butterfly vertebral arch	0	JAG1 CL E G H	182	6188	OMIM:118450	Alagille syndrome 1	.	257

Genes (1) :JAG1

Diseases (1) :OMIM:118450

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