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:
Abnormality of femoral epiphysis (HP:0006499)

Grandparent Node:
Irregular epiphyses (HP:0010582)

Parent Node:
Abnormality of the distal femoral epiphysis (HP:0010590)

Parent Node:
Irregular femoral epiphysis (HP:0006361)

..Starting node
..Irregular distal femoral epiphysis (HP:0006407)

Term ID:

6407

Name:

Irregular distal femoral epiphysis

Synonym:

Irregular outermost thighbone end part

Definition:

Anomaly of the contour of the Distal epiphysis of femur such that its normally smooth appearance is irregular.

Comments:

Reference:

HP:0006407

Genes and Diseases:

Child Nodes:

Sister Nodes:

Irregular capital femoral epiphysis (HP:0005041)

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:0006407	HP:0006407	Irregular distal femoral epiphysis	0	COL11A1 CL E G H	1301	2186	OMIM:154780	Marshall syndrome	.	215
HP:0006407	HP:0006407	Irregular distal femoral epiphysis	0	COL9A1 CL E G H	1297	2217	OMIM:614135	Epiphyseal dysplasia, multiple, 6		110

Genes (2) :COL11A1 COL9A1

Diseases (2) :OMIM:154780 OMIM:614135

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