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:
Abnormality of the proximal tibial epiphysis (HP:0010591)

Parent Node:
Irregular epiphyses (HP:0010582)

..Starting node
..Irregular proximal tibial epiphyses (HP:0006456)

Term ID:

6456

Name:

Irregular proximal tibial epiphyses

Synonym:

Irregular innermost shankbone end part; Irregular innermost shinbone end part

Definition:

Anomaly of the contour of the proximal epiphysis of the tibia such that its normally smooth appearance is irregular.

Comments:

Reference:

HP:0006456

Genes and Diseases:

Child Nodes:

Sister Nodes:

Fragmented, irregular epiphyses (HP:0005063)

Irregular epiphyses of the toes (HP:0010167)

Irregular epiphyses of the upper limbs (HP:0003842)

Irregular femoral epiphysis (HP:0006361)

Irregular radial epiphyses (HP:0004004)

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:0006456	HP:0006456	Irregular proximal tibial epiphyses	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215

Genes (1) :COL11A1

Diseases (1) :OMIM:154780

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