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:
Beaking of vertebral bodies (HP:0004568)

..Starting node
..Anterior beaking of lower thoracic vertebrae (HP:0004607)

Term ID:

4607

Name:

Anterior beaking of lower thoracic vertebrae

Synonym:

Definition:

Anterior tongue-like protrusions of the lower thoracic vertebral bodies.

Comments:

Reference:

HP:0004607

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior beaking of lumbar vertebrae (HP:0008430)

Anterior beaking of thoracic vertebrae (HP:0004630)

Beaking of vertebral bodies T12-L3 (HP:0004562)

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:0004607	HP:0004607	Anterior beaking of lower thoracic vertebrae	0	GUSB CL E G H	2990	4696	ORPHA:584	Mucopolysaccharidosis type 7	HP:0040281 - Very frequent	54
HP:0004607	HP:0004607	Anterior beaking of lower thoracic vertebrae	0	GUSB CL E G H	2990	4696	OMIM:253220	Mucopolysaccharidosis, type VII	.	54

Genes (1) :GUSB

Diseases (2) :ORPHA:584 OMIM:253220

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