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 epiphysis morphology (HP:0005930)

Parent Node:
Epiphyseal deformities of tubular bones (HP:0003053)

Parent Node:
Flattened epiphysis (HP:0003071)

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

Term ID:

6172

Name:

Flattened, squared-off epiphyses of tubular bones

Synonym:

Flattened, squared-off end part of tubular bones

Definition:

Comments:

Reference:

HP:0006172

Genes and Diseases:

Child Nodes:

Sister Nodes:

Flattened femoral epiphysis (HP:0030289)

Flattened humeral epiphyses (HP:0003895)

Flattened knee epiphyses (HP:0005715)

Flattened radial epiphyses (HP:0004002)

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:0006172	HP:0006172	Flattened, squared-off epiphyses of tubular bones	0	COL2A1 CL E G H	1280	2200	OMIM:156550	Kniest dysplasia	.	284

Genes (1) :COL2A1

Diseases (1) :OMIM:156550

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