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

Term ID:

4562

Name:

Beaking of vertebral bodies T12-L3

Synonym:

Definition:

Comments:

Reference:

HP:0004562

Genes and Diseases:

Child Nodes:

Sister Nodes:

Anterior beaking of lower thoracic vertebrae (HP:0004607)

Anterior beaking of lumbar vertebrae (HP:0008430)

Anterior beaking of thoracic vertebrae (HP:0004630)

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:0004562	HP:0004562	Beaking of vertebral bodies T12-L3	0	GLB1 CL E G H	2720	4298	ORPHA:79255	GM1 gangliosidosis type 1	HP:0040283 - Occasional	120
HP:0004562	HP:0004562	Beaking of vertebral bodies T12-L3	0	GNPTAB CL E G H	79158	29670	OMIM:252500	Mucolipidosis II alpha/beta	.	240
HP:0004562	HP:0004562	Beaking of vertebral bodies T12-L3	0	NF1 CL E G H	4763	7765	ORPHA:97685	17q11 microdeletion syndrome	HP:0040282 - Frequent	1952

Genes (3) :GLB1 GNPTAB NF1

Diseases (3) :ORPHA:79255 OMIM:252500 ORPHA:97685

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