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:
Increased vertebral height (HP:0004570)

..Starting node
..Tall lumbar vertebral bodies (HP:0008421)

Term ID:

8421

Name:

Tall lumbar vertebral bodies

Synonym:

Definition:

Comments:

Reference:

HP:0008421

Genes and Diseases:

Child Nodes:

Sister Nodes:

Increased anterior vertebral height (HP:0004581)

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:0008421	HP:0008421	Tall lumbar vertebral bodies	0	NOTCH2 CL E G H	4853	7882	OMIM:102500	Hajdu-Cheney syndrome	.	138

Genes (1) :NOTCH2

Diseases (1) :OMIM:102500

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