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)

Grandparent Node:
Juvenile aseptic necrosis (HP:0100323)

Parent Node:
Morbus Scheuermann (HP:0010891)

..Starting node
..Scheuermann-like vertebral changes (HP:0008478)

Term ID:

8478

Name:

Scheuermann-like vertebral changes

Synonym:

Definition:

Comments:

Reference:

HP:0008478

Genes and Diseases:

Child Nodes:

Sister Nodes:

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:0008478	HP:0008478	Scheuermann-like vertebral changes	0	PHF6 CL E G H	84295	18145	OMIM:301900	Borjeson-Forssman-Lehmann syndrome	.	29

Genes (1) :PHF6

Diseases (1) :OMIM:301900

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