Human Phenotype Ontology

Hello! Guest! Please Login or Register! Clinician Mode

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 vertebral morphology (HP:0003468)

Parent Node:
Abnormal number of vertebrae (HP:0030304)

..Starting node
..Decreased number of vertebrae (HP:0030305)

Term ID:

30305

Name:

Decreased number of vertebrae

Synonym:

Definition:

Comments:

Reference:

HP:0030305

Genes and Diseases:

Child Nodes:

........

11 thoracic vertebrae (HP:0030306)

Sister Nodes:

Supernumerary vertebrae (HP:0002946)

Input	HPO ID	HPO term	Distance	Gene
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0030305	HP:0030305	Decreased number of vertebrae	0	CL E G H
HP:0030305	HP:0030306	11 thoracic vertebrae	1	CL E G H

Genes (0) :

Diseases (0) :

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