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 epiphysis morphology (HP:0005930)

Parent Node:
Abnormality of the knee (HP:0002815)

Parent Node:
Flattened epiphysis (HP:0003071)

..Starting node
..Flattened knee epiphyses (HP:0005715)

Term ID:

5715

Name:

Flattened knee epiphyses

Synonym:

Flattened end part of knee bone

Definition:

Comments:

Reference:

HP:0005715

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flattened femoral epiphysis (HP:0030289)

Flattened humeral epiphyses (HP:0003895)

Flattened radial epiphyses (HP:0004002)

Flattened, squared-off epiphyses of tubular bones (HP:0006172)

Input	HPO ID	HPO term	Distance	Gene	Gene id entrez	HGNC ID	DiseaseId	DiseaseName	ClinVar variants
HPO disease - gene - phenotype typical associations:
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0005715	HP:0005715	Flattened knee epiphyses	0	COL9A2 CL E G H	1298	2218	OMIM:600204	Epiphyseal dysplasia, multiple, 2	110

Genes (1) :COL9A2

Diseases (1) :OMIM:600204

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